Variant report

Variant	esv3421830
Chromosome Location	chr13:52024776-52027324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:831)
CpG islands
(count:427)
Chromatin interactive
region (count:95)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52025285-52025435	K562	blood:	n/a	n/a
2	ARID3A	chr13:52027010-52027958	HepG2	liver:	n/a	n/a
3	ARID3A	chr13:52026219-52026237	K562	blood:	n/a	n/a
4	ARID3A	chr13:52025323-52025870	HepG2	liver:	n/a	n/a
5	ATF2	chr13:52026983-52027392	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr13:52026967-52027307	GM12878	blood:	n/a	n/a
7	ATF2	chr13:52026904-52027383	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr13:52026780-52028880	GM12878	blood:	n/a	n/a
9	ATF2	chr13:52025481-52025941	GM12878	blood:	n/a	n/a
10	ATF3	chr13:52026997-52027443	GM12878	blood:	n/a	n/a
11	ATF3	chr13:52026918-52027289	A549	lung:	n/a	n/a
12	ATF3	chr13:52027101-52027348	K562	blood:	n/a	n/a
13	BACH1	chr13:52027054-52028471	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr13:52026173-52026212	K562	blood:	n/a	n/a
15	BATF	chr13:52026954-52027264	GM12878	blood:	n/a	n/a
16	BCL11A	chr13:52026741-52027312	GM12878	blood:	n/a	chr13:52027205-52027218 chr13:52027221-52027230
17	BCL3	chr13:52026896-52027250	A549	lung:	n/a	chr13:52027205-52027218 chr13:52027221-52027230
18	BCL3	chr13:52026872-52027360	A549	lung:	n/a	chr13:52027205-52027218 chr13:52027221-52027230 chr13:52027312-52027325 chr13:52027317-52027326
19	BCL3	chr13:52026654-52027905	GM12878	blood:	n/a	chr13:52027205-52027218 chr13:52027799-52027808 chr13:52027221-52027230 chr13:52027312-52027325 chr13:52027317-52027326 chr13:52027680-52027693
20	BCLAF1	chr13:52026498-52027374	GM12878	blood:	n/a	chr13:52027205-52027218 chr13:52027221-52027230 chr13:52027312-52027325 chr13:52027317-52027326
21	BCLAF1	chr13:52026022-52028384	GM12878	blood:	n/a	chr13:52027205-52027218 chr13:52027799-52027808 chr13:52027221-52027230 chr13:52027312-52027325 chr13:52027317-52027326 chr13:52027680-52027693
22	BCLAF1	chr13:52025470-52026001	GM12878	blood:	n/a	chr13:52025821-52025830
23	BHLHE40	chr13:52026744-52028236	HepG2	liver:	n/a	n/a
24	BHLHE40	chr13:52026687-52028930	GM12878	blood:	n/a	n/a
25	BHLHE40	chr13:52025472-52026307	GM12878	blood:	n/a	chr13:52025633-52025649
26	BHLHE40	chr13:52025427-52025799	K562	blood:	n/a	chr13:52025633-52025649
27	BHLHE40	chr13:52026937-52028424	K562	blood:	n/a	n/a
28	BHLHE40	chr13:52026229-52026290	K562	blood:	n/a	n/a
29	BRCA1	chr13:52026974-52027348	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr13:52026532-52027311	GM12878	blood:	n/a	n/a
31	BRCA1	chr13:52026989-52027291	HepG2	liver:	n/a	n/a
32	BRCA1	chr13:52025428-52025516	H1-hESC	embryonic stem cell:	n/a	n/a
33	CBX3	chr13:52026951-52027340	K562	blood:	n/a	n/a
34	CCNT2	chr13:52025623-52028030	K562	blood:	n/a	chr13:52027316-52027325 chr13:52025953-52025962 chr13:52027432-52027441
35	CEBPB	chr13:52026800-52027372	GM12878	blood:	n/a	n/a
36	CEBPB	chr13:52025714-52025851	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr13:52027010-52027243	GM12878	blood:	n/a	n/a
38	CEBPB	chr13:52027044-52027801	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr13:52025258-52025288	K562	blood:	n/a	n/a
40	CEBPD	chr13:52026866-52028069	K562	blood:	n/a	n/a
41	CEBPD	chr13:52025990-52026441	K562	blood:	n/a	n/a
42	CEBPD	chr13:52026944-52027305	HepG2	liver:	n/a	n/a
43	CEBPD	chr13:52026822-52027396	K562	blood:	n/a	n/a
44	CEBPD	chr13:52026809-52028049	HepG2	liver:	n/a	n/a
45	CHD1	chr13:52025611-52025813	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr13:52026257-52026265	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr13:52024742-52028646	IMR90	lung:	n/a	n/a
48	CHD1	chr13:52026650-52027270	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr13:52025386-52028410	GM12878	blood:	n/a	n/a
50	CHD2	chr13:52025528-52025539	H1-hESC	embryonic stem cell:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52027124-52027174	IMR90	lung:	fetal
2	chr13:52027124-52027174	SK-N-SH	brain:	n/a
3	chr13:52027124-52027174	Jurkat	blood:	n/a
4	chr13:52025615-52025665	CMK	blood:	n/a
5	chr13:52027124-52027174	HCPEpiC	choroid plexus:	n/a
6	chr13:52025648-52025698	MCF10A-Er-Src	breast:	n/a
7	chr13:52027225-52027275	Hepatocyte	liver:	n/a
8	chr13:52027124-52027174	AG09309	skin:	n/a
9	chr13:52024792-52024842	AG09319	gingival:	n/a
10	chr13:52025615-52025665	SK-N-SH	brain:	n/a
11	chr13:52025648-52025698	PANC-1	pancreas:	n/a
12	chr13:52025615-52025665	AG09309	skin:	n/a
13	chr13:52025615-52025665	HNPCEpiC	eye:	n/a
14	chr13:52025615-52025665	HCT-116	colon:	n/a
15	chr13:52025615-52025665	Hepatocyte	liver:	n/a
16	chr13:52027321-52027371	CMK	blood:	n/a
17	chr13:52026632-52026682	HCF	heart:	n/a
18	chr13:52027225-52027275	SK-N-SH	brain:	n/a
19	chr13:52026632-52026682	GM06990	blood:	n/a
20	chr13:52027321-52027371	MCF-7	breast:	n/a
21	chr13:52026632-52026682	AG09319	gingival:	n/a
22	chr13:52027321-52027371	HEEpiC	esophagus:	n/a
23	chr13:52027124-52027174	HEK293	kidney:	embryo
24	chr13:52027225-52027275	HEEpiC	esophagus:	n/a
25	chr13:52026632-52026682	HepG2	liver:	n/a
26	chr13:52024792-52024842	HRPEpiC	eye:	n/a
27	chr13:52024792-52024842	NT2-D1	testis:	n/a
28	chr13:52025615-52025665	HEEpiC	esophagus:	n/a
29	chr13:52024792-52024842	SAEC	small airway:	n/a
30	chr13:52027225-52027275	HRE	kidney:	n/a
31	chr13:52027321-52027371	NH-A	brain:	n/a
32	chr13:52025615-52025665	HEK293	kidney:	embryo
33	chr13:52024792-52024842	HL-60	blood:	n/a
34	chr13:52025648-52025698	PFSK-1	brain:	n/a
35	chr13:52027225-52027275	Jurkat	blood:	n/a
36	chr13:52025615-52025665	AG04450	lung:	fetal
37	chr13:52025615-52025665	ovcar-3	ovarian:	n/a
38	chr13:52026632-52026682	SKMC	muscle:	n/a
39	chr13:52026632-52026682	HCT-116	colon:	n/a
40	chr13:52024792-52024842	A549	lung:	n/a
41	chr13:52027225-52027275	HCF	heart:	n/a
42	chr13:52027225-52027275	Caco-2	colon:	n/a
43	chr13:52026632-52026682	CMK	blood:	n/a
44	chr13:52027321-52027371	Caco-2	colon:	n/a
45	chr13:52027124-52027174	MCF-7	breast:	n/a
46	chr13:52025648-52025698	HCPEpiC	choroid plexus:	n/a
47	chr13:52026632-52026682	PANC-1	pancreas:	n/a
48	chr13:52027321-52027371	HCT-116	colon:	n/a
49	chr13:52027124-52027174	HNPCEpiC	eye:	n/a
50	chr13:52027124-52027174	HMEC	breast:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:62340893..62341654-chr13:52026705..52027451,2	NB4	blood:
2	chr13:51959134..51961591-chr13:52026035..52028339,2	K562	blood:
3	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
4	chr1:16840086..16841073-chr13:52026852..52027450,2	NB4	blood:
5	chr13:52026056..52028727-chr13:52040719..52045413,5	K562	blood:
6	chr13:52026651..52027516-chr13:77566146..77566803,2	NB4	blood:
7	chr13:52025591..52028718-chr13:52111998..52119680,9	MCF-7	breast:
8	chr13:52022042..52032158-chr13:52153162..52160287,46	K562	blood:
9	chr13:52024232..52029374-chr13:52366504..52381003,28	MCF-7	breast:
10	chr13:52025027..52027980-chr2:128047526..128049328,2	MCF-7	breast:
11	chr13:52026832..52028649-chr13:52125525..52127655,3	MCF-7	breast:
12	chr13:52027214..52027837-chr9:79073876..79074739,2	Hela-S3	cervix:
13	chr13:52026692..52027349-chr9:4984498..4985175,2	HCT-116	colon:
14	chr13:52027082..52027953-chr8:38088642..38089301,3	Hela-S3	cervix:
15	chr13:52026564..52027860-chr13:52157626..52159049,8	MCF-7	breast:
16	chr13:52026823..52027558-chr22:29999049..30000022,2	HCT-116	colon:
17	chr13:51933288..51938259-chr13:52024808..52026901,4	K562	blood:
18	chr13:52026651..52027187-chr14:81686972..81687730,2	NB4	blood:
19	chr13:52024964..52027210-chr3:57581929..57583601,2	MCF-7	breast:
20	chr13:52026520..52027249-chr13:52158446..52159271,2	NB4	blood:
21	chr13:52026671..52027516-chr6:27100678..27101257,2	NB4	blood:
22	chr12:7052487..7053235-chr13:52027071..52027936,2	NB4	blood:
23	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:
24	chr13:52025774..52028487-chr13:52584807..52587141,2	K562	blood:
25	chr13:52024180..52026043-chr13:52139073..52141757,2	K562	blood:
26	chr1:17230833..17231810-chr13:52026767..52027625,2	NB4	blood:
27	chr13:52026838..52027440-chr6:26031762..26032712,2	Hela-S3	cervix:
28	chr13:52015950..52029988-chr13:52150583..52166755,85	MCF-7	breast:
29	chr13:52026918..52027867-chr19:55918683..55919528,2	Hela-S3	cervix:
30	chr12:53297166..53299841-chr13:52026956..52028514,2	MCF-7	breast:
31	chr13:51995533..51997582-chr13:52026152..52028042,2	K562	blood:
32	chr1:935164..937657-chr13:52026309..52028447,2	MCF-7	breast:
33	chr13:52025248..52026911-chr13:52113097..52115719,3	K562	blood:
34	chr13:52022285..52029211-chr13:52148229..52167071,88	MCF-7	breast:
35	chr13:52026817..52027508-chr7:23338855..23339372,2	HCT-116	colon:
36	chr13:52023047..52029598-chr13:52376243..52380914,21	K562	blood:
37	chr1:45987083..45987646-chr13:52027213..52028181,2	NB4	blood:
38	chr11:71823458..71824149-chr13:52026625..52027625,2	NB4	blood:
39	chr13:52025248..52027565-chr13:52113097..52117557,5	K562	blood:
40	chr13:52025554..52026127-chr17:8286258..8286976,2	Hela-S3	cervix:
41	chr11:61583943..61584590-chr13:52027042..52027771,2	Hela-S3	cervix:
42	chr11:62609151..62609696-chr13:52026692..52027236,2	NB4	blood:
43	chr13:52027166..52028025-chr17:56736127..56737072,2	NB4	blood:
44	chr13:52024267..52031024-chr13:52038927..52044194,9	MCF-7	breast:
45	chr13:52027072..52027687-chr6:45345339..45346209,2	Hela-S3	cervix:
46	chr13:52022475..52029228-chr13:52156654..52162250,29	K562	blood:
47	chr13:52027123..52027788-chr7:139025647..139026181,2	NB4	blood:
48	chr13:52025241..52027687-chr13:52171016..52174536,3	MCF-7	breast:
49	chr13:52025527..52027084-chr13:52138971..52141023,2	MCF-7	breast:
50	chr11:63952667..63953169-chr13:52026699..52027319,2	NB4	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDFY2-2	chr13:52026506-52026589	ENSG00000236778.3
2	lnc-WDFY2-2	chr13:52027277-52030240	NONHSAT033912
3	lnc-WDFY2-2	chr13:52026504-52026589	ENSG00000236778.3
4	lnc-WDFY2-2	chr13:52026565-52026589	ENSG00000236778.3
5	lnc-WDFY2-2	chr13:52026503-52026589	ENSG00000236778.3
6	lnc-WDFY2-2	chr13:52026503-52026589	ENSG00000236778.3

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	INTS6	hsa-miR-1	chr13:52025055-52025076

Variant related genes	Relation type
RPS4XP16	TF binding region
INTS6-AS1	TF binding region
INTS6	TF binding region
RPS4XP16	CpG island
INTS6-AS1	CpG island
INTS6	CpG island
ENSG00000178096	chromatin interactions
ENSG00000085788	chromatin interactions
ENSG00000157800	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000139668	chromatin interactions
ENSG00000034152	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000161970	chromatin interactions
ENSG00000229906	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000233220	chromatin interactions
ENSG00000224451	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000130749	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000187210	chromatin interactions
ENSG00000243900	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000151725	chromatin interactions
ENSG00000110422	chromatin interactions
ENSG00000151923	chromatin interactions
ENSG00000225663	chromatin interactions
ENSG00000164898	chromatin interactions
ENSG00000119574	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000096968	chromatin interactions
ENSG00000186575	chromatin interactions
ENSG00000270101	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000163161	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000269965	chromatin interactions
ENSG00000196284	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000142230	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000123191	chromatin interactions
ENSG00000248121	chromatin interactions
ENSG00000102805	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000269955	chromatin interactions
ENSG00000253710	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000266611	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000214960	chromatin interactions
ENSG00000064763	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000188290	chromatin interactions
ENSG00000206920	chromatin interactions
ENSG00000156928	chromatin interactions
ENSG00000257327	chromatin interactions
ENSG00000219545	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000102796	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000038274	chromatin interactions
ENSG00000252141	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000263809	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000272146	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000152944	chromatin interactions
ENSG00000124693	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144939844	chr13:52024820-52024821	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs187104763	chr13:52024834-52024835	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs568103335	chr13:52024846-52024847	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs111598527	chr13:52024858-52024859	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs2277445	chr13:52024936-52024937	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373014152	chr13:52024977-52024978	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
7	rs77392775	chr13:52024982-52024983	Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs2277444	chr13:52025000-52025001	Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs146789937	chr13:52025027-52025028	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs553165482	chr13:52025039-52025040	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs546374205	chr13:52025060-52025061	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region miRNA target site	19 gene(s)	Overlapped CNVs	n/a
12	rs564715727	chr13:52025069-52025070	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region miRNA target site	19 gene(s)	Overlapped CNVs	n/a
13	rs200831772	chr13:52025121-52025122	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs376450519	chr13:52025172-52025173	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
15	rs374621185	chr13:52025221-52025222	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
16	rs542151837	chr13:52025227-52025228	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
17	rs561611350	chr13:52025230-52025231	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
18	rs373798571	chr13:52025233-52025234	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs201420828	chr13:52025254-52025255	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs201775274	chr13:52025263-52025264	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
21	rs565355183	chr13:52025328-52025329	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs200028933	chr13:52025329-52025330	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs372044722	chr13:52025362-52025363	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs113530787	chr13:52025390-52025391	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs544174836	chr13:52025408-52025409	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs564258534	chr13:52025411-52025412	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
27	rs76204797	chr13:52025423-52025424	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
28	rs540350130	chr13:52025445-52025446	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
29	rs560787503	chr13:52025542-52025543	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs527717838	chr13:52025558-52025559	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
31	rs114661424	chr13:52025568-52025569	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
32	rs376532169	chr13:52025570-52025571	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs369702902	chr13:52025596-52025597	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
34	rs569524153	chr13:52025626-52025627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
35	rs530541780	chr13:52025653-52025654	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
36	rs373292354	chr13:52025660-52025661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
37	rs570444506	chr13:52025663-52025664	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
38	rs547761454	chr13:52025692-52025693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs376629001	chr13:52025714-52025715	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
40	rs372116574	chr13:52025757-52025758	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs552788391	chr13:52025775-52025776	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
42	rs566696614	chr13:52025818-52025819	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
43	rs535251807	chr13:52025840-52025841	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
44	rs551582945	chr13:52025856-52025857	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
45	rs71720242	chr13:52025857-52025858	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
46	rs555265814	chr13:52025884-52025885	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
47	rs112515315	chr13:52025925-52025926	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
48	rs575163866	chr13:52025948-52025949	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
49	rs544088296	chr13:52025954-52025955	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
50	rs573492218	chr13:52025991-52025992	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51949400-52025000	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:51950000-52025200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:51963200-52024800	Weak transcription	Fetal Intestine Large	intestine
4	chr13:51971800-52025000	Weak transcription	Fetal Stomach	stomach
5	chr13:51984400-52024800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr13:51992400-52025400	Weak transcription	Esophagus	oesophagus
7	chr13:51995600-52025000	Weak transcription	Right Ventricle	heart
8	chr13:51995600-52025600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:51997000-52025200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:52000600-52025200	Weak transcription	Small Intestine	intestine
11	chr13:52004200-52024800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:52004600-52024800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:52004600-52025200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:52012200-52025400	Weak transcription	Left Ventricle	heart
15	chr13:52013600-52025400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr13:52015000-52025000	Weak transcription	Brain Germinal Matrix	brain
17	chr13:52016800-52025200	Weak transcription	Psoas Muscle	Psoas
18	chr13:52017000-52025400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:52018800-52024800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr13:52018800-52025200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr13:52019600-52025400	Weak transcription	Fetal Brain Male	brain
22	chr13:52020000-52025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr13:52020000-52025000	Strong transcription	HSMM	muscle
24	chr13:52020400-52024800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:52020400-52025000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:52020600-52025200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:52022200-52025000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:52022400-52024800	Weak transcription	Brain Substantia Nigra	brain
29	chr13:52022400-52025000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr13:52022600-52025200	Strong transcription	Placenta	Placenta
31	chr13:52022800-52024800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:52023000-52025000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr13:52023000-52025000	Strong transcription	Fetal Thymus	thymus
34	chr13:52023000-52025200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr13:52023200-52025000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr13:52023200-52025000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr13:52023200-52025200	Genic enhancers	Primary B cells from cord blood	blood
38	chr13:52023200-52025200	Genic enhancers	Primary hematopoietic stem cells	blood
39	chr13:52023200-52025200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:52023400-52024800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:52023400-52025000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr13:52023400-52025000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr13:52023400-52025000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr13:52023400-52025000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr13:52023400-52025000	Strong transcription	Fetal Kidney	kidney
46	chr13:52023400-52025000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr13:52023400-52025200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr13:52023400-52025200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr13:52023400-52025200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr13:52023400-52025200	Enhancers	Colon Smooth Muscle	Colon

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