Variant report

Variant	esv3360115
Chromosome Location	chr13:52025676-52027974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:964)
CpG islands
(count:733)
Chromatin interactive
region (count:97)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr13:52027569-52027762	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	chr13:52026967-52027307	GM12878	blood:	n/a	n/a
6	ATF2	chr13:52027908-52028400	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr13:52027774-52028198	GM12878	blood:	n/a	n/a
8	ATF2	chr13:52027950-52028348	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr13:52026780-52028880	GM12878	blood:	n/a	n/a
10	ATF2	chr13:52026983-52027392	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr13:52025481-52025941	GM12878	blood:	n/a	n/a
12	ATF2	chr13:52026904-52027383	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr13:52027101-52027348	K562	blood:	n/a	n/a
14	ATF3	chr13:52026918-52027289	A549	lung:	n/a	n/a
15	ATF3	chr13:52026997-52027443	GM12878	blood:	n/a	n/a
16	BACH1	chr13:52026173-52026212	K562	blood:	n/a	n/a
17	BACH1	chr13:52027054-52028471	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr13:52026954-52027264	GM12878	blood:	n/a	n/a
19	BCL11A	chr13:52026741-52027312	GM12878	blood:	n/a	chr13:52027205-52027218 chr13:52027221-52027230
20	BCL3	chr13:52026896-52027250	A549	lung:	n/a	chr13:52027205-52027218 chr13:52027221-52027230
21	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
22	BCL3	chr13:52026872-52027360	A549	lung:	n/a	chr13:52027205-52027218 chr13:52027221-52027230 chr13:52027312-52027325 chr13:52027317-52027326
23	BCLAF1	chr13:52026498-52027374	GM12878	blood:	n/a	chr13:52027205-52027218 chr13:52027221-52027230 chr13:52027312-52027325 chr13:52027317-52027326
24	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
25	BCLAF1	chr13:52025470-52026001	GM12878	blood:	n/a	chr13:52025821-52025830
26	BCLAF1	chr13:52027457-52028519	GM12878	blood:	n/a	chr13:52027799-52027808 chr13:52027680-52027693
27	BHLHE40	chr13:52025472-52026307	GM12878	blood:	n/a	chr13:52025633-52025649
28	BHLHE40	chr13:52026687-52028930	GM12878	blood:	n/a	n/a
29	BHLHE40	chr13:52026744-52028236	HepG2	liver:	n/a	n/a
30	BHLHE40	chr13:52025427-52025799	K562	blood:	n/a	chr13:52025633-52025649
31	BHLHE40	chr13:52026937-52028424	K562	blood:	n/a	n/a
32	BHLHE40	chr13:52026229-52026290	K562	blood:	n/a	n/a
33	BRCA1	chr13:52027781-52028207	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr13:52026532-52027311	GM12878	blood:	n/a	n/a
35	BRCA1	chr13:52026974-52027348	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr13:52027528-52028168	GM12878	blood:	n/a	n/a
37	BRCA1	chr13:52027519-52027915	HepG2	liver:	n/a	n/a
38	BRCA1	chr13:52026989-52027291	HepG2	liver:	n/a	n/a
39	CBX3	chr13:52026951-52027340	K562	blood:	n/a	n/a
40	CCNT2	chr13:52025623-52028030	K562	blood:	n/a	chr13:52027316-52027325 chr13:52025953-52025962 chr13:52027432-52027441
41	CEBPB	chr13:52026800-52027372	GM12878	blood:	n/a	n/a
42	CEBPB	chr13:52027939-52028145	H1-hESC	embryonic stem cell:	n/a	chr13:52028096-52028108
43	CEBPB	chr13:52027010-52027243	GM12878	blood:	n/a	n/a
44	CEBPB	chr13:52025714-52025851	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr13:52027044-52027801	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr13:52027579-52027694	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPD	chr13:52026809-52028049	HepG2	liver:	n/a	n/a
48	CEBPD	chr13:52026944-52027305	HepG2	liver:	n/a	n/a
49	CEBPD	chr13:52026822-52027396	K562	blood:	n/a	n/a
50	CEBPD	chr13:52026866-52028069	K562	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:52027479-52027529	LNCaP	prostate:	n/a
2	chr13:52027479-52027529	LNCaP	prostate:	n/a
3	chr13:52027945-52027995	ProgFib	skin:	n/a
4	chr13:52027388-52027438	A549	lung:	n/a
5	chr13:52027945-52027995	NHDF-neo	bronchial:	n/a
6	chr13:52027382-52027432	PANC-1	pancreas:	n/a
7	chr13:52027382-52027432	NT2-D1	testis:	n/a
8	chr13:52027479-52027529	HEK293	kidney:	embryo
9	chr13:52027945-52027995	HNPCEpiC	eye:	n/a
10	chr13:52027479-52027529	GM12891	blood:	n/a
11	chr13:52026632-52026682	HMEC	breast:	n/a
12	chr13:52027945-52027995	AG04449	skin:	fetal
13	chr13:52027379-52027429	HRCEpiC	kidney:	n/a
14	chr13:52027124-52027174	HNPCEpiC	eye:	n/a
15	chr13:52027382-52027432	HEEpiC	esophagus:	n/a
16	chr13:52026632-52026682	HPAEpiC	pulmonary alveolar:	n/a
17	chr13:52027366-52027416	U87	brain:	n/a
18	chr13:52027388-52027438	HAEpiC	amniotic membrane:	n/a
19	chr13:52027388-52027438	HCT-116	colon:	n/a
20	chr13:52027382-52027432	ECC-1	luminal epithelium:	n/a
21	chr13:52027481-52027531	HNPCEpiC	eye:	n/a
22	chr13:52027382-52027432	HMEC	breast:	n/a
23	chr13:52027321-52027371	Hepatocyte	liver:	n/a
24	chr13:52027379-52027429	Caco-2	colon:	n/a
25	chr13:52027382-52027432	ProgFib	skin:	n/a
26	chr13:52027321-52027371	NHBE	bronchial:	n/a
27	chr13:52025648-52025698	ECC-1	luminal epithelium:	n/a
28	chr13:52027382-52027432	HRPEpiC	eye:	n/a
29	chr13:52027321-52027371	HAEpiC	amniotic membrane:	n/a
30	chr13:52027479-52027529	HMEC	breast:	n/a
31	chr13:52027481-52027531	IMR90	lung:	fetal
32	chr13:52027321-52027371	HRCEpiC	kidney:	n/a
33	chr13:52025648-52025698	GM12878	blood:	n/a
34	chr13:52027481-52027531	PrEC	prostate:	n/a
35	chr13:52026632-52026682	NHBE	bronchial:	n/a
36	chr13:52026632-52026682	BJ	skin:	n/a
37	chr13:52027388-52027438	AG10803	skin:	n/a
38	chr13:52027481-52027531	CMK	blood:	n/a
39	chr13:52027366-52027416	HCT-116	colon:	n/a
40	chr13:52027366-52027416	H1-hESC	embryonic stem cell:	embryo
41	chr13:52026632-52026682	NT2-D1	testis:	n/a
42	chr13:52027366-52027416	HCM	heart:	n/a
43	chr13:52025648-52025698	NHDF-neo	bronchial:	n/a
44	chr13:52027481-52027531	Hela-S3	cervix:	n/a
45	chr13:52027366-52027416	PrEC	prostate:	n/a
46	chr13:52027945-52027995	NHBE	bronchial:	n/a
47	chr13:52027388-52027438	Jurkat	blood:	n/a
48	chr13:52027388-52027438	NHBE	bronchial:	n/a
49	chr13:52027481-52027531	GM06990	blood:	n/a
50	chr13:52027945-52027995	AG04450	lung:	fetal

(count:97 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:17230833..17231810-chr13:52026767..52027625,2	NB4	blood:
2	chr13:52023359..52028039-chr13:52370142..52379804,19	MCF-7	breast:
3	chr1:16840086..16841073-chr13:52026852..52027450,2	NB4	blood:
4	chr13:52026671..52027516-chr6:27100678..27101257,2	NB4	blood:
5	chr13:52026821..52027491-chr19:39421527..39422118,2	HCT-116	colon:
6	chr13:52024284..52029908-chr13:52069886..52073128,6	K562	blood:
7	chr11:61583943..61584590-chr13:52027042..52027771,2	Hela-S3	cervix:
8	chr13:52022170..52025698-chr13:52211557..52214174,3	MCF-7	breast:
9	chr13:52022728..52028464-chr13:52376436..52381467,17	K562	blood:
10	chr13:52026651..52027516-chr13:77566146..77566803,2	NB4	blood:
11	chr13:52027147..52029291-chr17:56736300..56737944,2	MCF-7	breast:
12	chr11:33279409..33279923-chr13:52026765..52027551,2	Hela-S3	cervix:
13	chr13:52025316..52028305-chr18:3447499..3449683,2	MCF-7	breast:
14	chr13:52026713..52027443-chr17:28927230..28927940,2	NB4	blood:
15	chr13:52027082..52027953-chr8:38088642..38089301,3	Hela-S3	cervix:
16	chr13:52025591..52028718-chr13:52111998..52119680,9	MCF-7	breast:
17	chr13:52025554..52026127-chr17:8286258..8286976,2	Hela-S3	cervix:
18	chr13:52026520..52027249-chr13:52158446..52159271,2	NB4	blood:
19	chr11:62609151..62609696-chr13:52026692..52027236,2	NB4	blood:
20	chr13:52025793..52028352-chr13:52043580..52045211,2	MCF-7	breast:
21	chr13:52026798..52027358-chr5:162932083..162932801,2	NB4	blood:
22	chr13:52025794..52034237-chr13:52040132..52048046,20	K562	blood:
23	chr12:53297166..53299841-chr13:52026956..52028514,2	MCF-7	breast:
24	chr13:52026904..52027759-chr7:7680258..7680839,2	Hela-S3	cervix:
25	chr11:62609055..62609620-chr13:52027641..52028316,2	Hela-S3	cervix:
26	chr13:52026611..52027282-chr13:111367415..111368502,3	Hela-S3	cervix:
27	chr11:62340893..62341654-chr13:52026705..52027451,2	NB4	blood:
28	chr13:52026957..52027603-chr4:185654533..185655299,2	Hela-S3	cervix:
29	chr11:71823458..71824149-chr13:52026625..52027625,2	NB4	blood:
30	chr13:52026864..52027624-chr7:26240034..26240676,2	NB4	blood:
31	chr13:52026703..52027221-chr7:140097973..140098689,2	HCT-116	colon:
32	chr13:52022475..52029228-chr13:52156654..52162250,29	K562	blood:
33	chr13:51994030..51996463-chr13:52024763..52027853,3	MCF-7	breast:
34	chr13:52023587..52026212-chr20:45985508..45987866,2	MCF-7	breast:
35	chr1:144533574..144534118-chr13:52027490..52028216,2	Hela-S3	cervix:
36	chr13:52025027..52027980-chr2:128047526..128049328,2	MCF-7	breast:
37	chr13:52026817..52027508-chr7:23338855..23339372,2	HCT-116	colon:
38	chr11:95523018..95523520-chr13:52026610..52027555,2	NB4	blood:
39	chr13:52026692..52027349-chr9:4984498..4985175,2	HCT-116	colon:
40	chr13:52026838..52027440-chr6:26031762..26032712,2	Hela-S3	cervix:
41	chr13:52026302..52028472-chr13:52069042..52071707,2	MCF-7	breast:
42	chr1:149222390..149225268-chr13:52026343..52028378,2	MCF-7	breast:
43	chr13:52024267..52031024-chr13:52038927..52044194,9	MCF-7	breast:
44	chr13:51995533..51997582-chr13:52026152..52028042,2	K562	blood:
45	chr1:149858264..149859990-chr13:52025489..52027316,2	MCF-7	breast:
46	chr13:52026843..52027830-chr19:47615978..47617068,3	NB4	blood:
47	chr13:52025248..52026911-chr13:52113097..52115719,3	K562	blood:
48	chr13:52024180..52026043-chr13:52139073..52141757,2	K562	blood:
49	chr13:52025527..52027084-chr13:52138971..52141023,2	MCF-7	breast:
50	chr13:52022276..52028052-chr13:52350866..52359408,15	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDFY2-2	chr13:52026503-52026589	ENSG00000236778.3
2	lnc-WDFY2-2	chr13:52027477-52027554	ENSG00000236778.3
3	lnc-WDFY2-2	chr13:52027581-52028465	NONHSAT033915
4	lnc-WDFY2-2	chr13:52026506-52026589	ENSG00000236778.3
5	lnc-WDFY2-2	chr13:52026565-52026589	ENSG00000236778.3
6	lnc-WDFY2-2	chr13:52027519-52027554	ENSG00000236778.3
7	lnc-WDFY2-2	chr13:52027277-52030240	NONHSAT033912
8	lnc-WDFY2-2	chr13:52026503-52026589	ENSG00000236778.3
9	lnc-WDFY2-2	chr13:52026504-52026589	ENSG00000236778.3
10	lnc-WDFY2-2	chr13:52027481-52027554	NR_103812

No data

Variant related genes	Relation type
RPS4XP16	TF binding region
INTS6	TF binding region
INTS6-AS1	TF binding region
RPS4XP16	CpG island
INTS6	CpG island
INTS6-AS1	CpG island
ENSG00000257327	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000128626	chromatin interactions
ENSG00000243900	chromatin interactions
ENSG00000269955	chromatin interactions
ENSG00000229906	chromatin interactions
ENSG00000269965	chromatin interactions
ENSG00000165417	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000163161	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000101040	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000233220	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000164898	chromatin interactions
ENSG00000196284	chromatin interactions
ENSG00000156928	chromatin interactions
ENSG00000219545	chromatin interactions
ENSG00000136108	chromatin interactions
ENSG00000104835	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000206920	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000263809	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000253710	chromatin interactions
ENSG00000064763	chromatin interactions
ENSG00000157800	chromatin interactions
ENSG00000214960	chromatin interactions
ENSG00000273391	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000225663	chromatin interactions
ENSG00000266611	chromatin interactions
ENSG00000139668	chromatin interactions
ENSG00000187210	chromatin interactions
ENSG00000102796	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000123191	chromatin interactions
ENSG00000119574	chromatin interactions
ENSG00000161970	chromatin interactions
ENSG00000102805	chromatin interactions
ENSG00000096968	chromatin interactions
ENSG00000151725	chromatin interactions
ENSG00000166037	chromatin interactions
ENSG00000152944	chromatin interactions
ENSG00000272146	chromatin interactions
ENSG00000038274	chromatin interactions
ENSG00000252141	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000142230	chromatin interactions
ENSG00000111696	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000034152	chromatin interactions
ENSG00000151923	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000130749	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000146963	chromatin interactions
ENSG00000110422	chromatin interactions
ENSG00000186575	chromatin interactions
ENSG00000224451	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000085788	chromatin interactions
ENSG00000270101	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000254772	chromatin interactions
ENSG00000231856	chromatin interactions
ENSG00000248121	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000188290	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	rs557759342	chr13:52026040-52026041	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
15	rs577956073	chr13:52026042-52026043	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
16	rs374891503	chr13:52026072-52026073	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
17	rs368060859	chr13:52026078-52026079	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
18	rs372585062	chr13:52026108-52026109	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
19	rs376990814	chr13:52026124-52026125	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
20	rs369997900	chr13:52026172-52026173	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
21	rs372614653	chr13:52026195-52026196	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
22	rs377209822	chr13:52026205-52026206	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
23	rs369937206	chr13:52026254-52026255	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
24	rs560344281	chr13:52026286-52026287	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
25	rs200128270	chr13:52026288-52026289	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
26	rs117836984	chr13:52026301-52026302	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
27	rs372530029	chr13:52026329-52026330	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
28	rs563191295	chr13:52026420-52026421	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
29	rs12870576	chr13:52026464-52026465	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
30	rs12870327	chr13:52026475-52026476	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
31	rs12870580	chr13:52026479-52026480	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
32	rs532078070	chr13:52026492-52026493	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
33	rs552078732	chr13:52026497-52026498	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
34	rs140804137	chr13:52026608-52026609	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
35	rs200393455	chr13:52026632-52026633	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
36	rs372600514	chr13:52026666-52026667	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
37	rs532779778	chr13:52026683-52026684	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
38	rs140712480	chr13:52026686-52026687	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	42 gene(s)	Overlapped CNVs	n/a
39	rs199507935	chr13:52026697-52026698	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	44 gene(s)	Overlapped CNVs	n/a
40	rs535285775	chr13:52026709-52026710	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	47 gene(s)	Overlapped CNVs	n/a
41	rs1143540	chr13:52026713-52026714	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
42	rs1143539	chr13:52026723-52026724	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
43	rs1143538	chr13:52026726-52026727	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
44	rs555179918	chr13:52026734-52026735	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
45	rs376376636	chr13:52026757-52026758	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
46	rs537796065	chr13:52026783-52026784	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	50 gene(s)	Overlapped CNVs	n/a
47	rs557622604	chr13:52026815-52026816	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
48	rs577978239	chr13:52026829-52026830	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	56 gene(s)	Overlapped CNVs	n/a
49	rs540215247	chr13:52026871-52026872	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	63 gene(s)	Overlapped CNVs	n/a
50	rs554262170	chr13:52026915-52026916	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	63 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:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52024400-52028200	Active TSS	Thymus	Thymus
2	chr13:52024800-52025800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:52024800-52026600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:52024800-52027200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:52025000-52025800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr13:52025000-52025800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
7	chr13:52025000-52025800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr13:52025000-52025800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:52025000-52025800	Active TSS	Right Atrium	heart
10	chr13:52025000-52028000	Active TSS	Hela-S3	cervix
11	chr13:52025000-52028000	Active TSS	HMEC	breast
12	chr13:52025000-52028200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr13:52025000-52028200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr13:52025000-52028200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr13:52025000-52028600	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr13:52025000-52028600	Active TSS	Right Ventricle	heart
17	chr13:52025000-52028800	Active TSS	Fetal Muscle Leg	muscle
18	chr13:52025000-52028800	Active TSS	K562	blood
19	chr13:52025000-52029000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:52025000-52029000	Active TSS	GM12878-XiMat	blood
21	chr13:52025200-52025800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr13:52025200-52025800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr13:52025200-52025800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr13:52025200-52025800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr13:52025200-52027200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr13:52025200-52028000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:52025200-52028000	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr13:52025200-52028000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:52025200-52028000	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr13:52025200-52028000	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr13:52025200-52028000	Active TSS	NHLF	lung
32	chr13:52025200-52028200	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr13:52025200-52028200	Active TSS	Brain Cingulate Gyrus	brain
34	chr13:52025200-52028200	Active TSS	Stomach Smooth Muscle	stomach
35	chr13:52025200-52028200	Active TSS	HSMMtube	muscle
36	chr13:52025200-52028400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr13:52025200-52028600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr13:52025200-52028600	Active TSS	H1 Cell Line	embryonic stem cell
39	chr13:52025200-52028600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr13:52025200-52028600	Active TSS	Aorta	Aorta
41	chr13:52025200-52028600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:52025200-52028600	Active TSS	Fetal Muscle Trunk	muscle
43	chr13:52025200-52028600	Active TSS	Lung	lung
44	chr13:52025200-52028600	Active TSS	A549	lung
45	chr13:52025200-52028800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr13:52025200-52028800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:52025200-52028800	Active TSS	Fetal Intestine Small	intestine
48	chr13:52025200-52028800	Active TSS	Fetal Thymus	thymus
49	chr13:52025200-52028800	Active TSS	Psoas Muscle	Psoas
50	chr13:52025200-52028800	Active TSS	NHDF-Ad	bronchial

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