Variant report

Variant	esv2761773
Chromosome Location	chr12:123616003-123723460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2074)
CpG islands
(count:2566)
Chromatin interactive
region (count:201)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:2074 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123722699-123722953	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123625448-123625929	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:123634019-123634327	K562	blood:	n/a	n/a
4	ARID3A	chr12:123626226-123626861	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:123717359-123718236	K562	blood:	n/a	n/a
6	ARID3A	chr12:123722748-123722853	K562	blood:	n/a	n/a
7	ARID3A	chr12:123717021-123718163	HepG2	liver:	n/a	n/a
8	ATF1	chr12:123717293-123718156	K562	blood:	n/a	n/a
9	ATF2	chr12:123717344-123718068	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr12:123716993-123717733	GM12878	blood:	n/a	n/a
11	ATF2	chr12:123721847-123723074	GM12878	blood:	n/a	n/a
12	ATF2	chr12:123648444-123649206	GM12878	blood:	n/a	n/a
13	ATF2	chr12:123717298-123717819	GM12878	blood:	n/a	n/a
14	ATF3	chr12:123716799-123717823	A549	lung:	n/a	chr12:123717501-123717515 chr12:123717694-123717703
15	ATF3	chr12:123626506-123626822	K562	blood:	n/a	n/a
16	ATF3	chr12:123626151-123627053	A549	lung:	n/a	n/a
17	BACH1	chr12:123716581-123716766	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr12:123717290-123718425	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr12:123634748-123634916	H1-hESC	embryonic stem cell:	n/a	n/a
20	BATF	chr12:123707702-123708072	GM12878	blood:	n/a	n/a
21	BATF	chr12:123707687-123707980	GM12878	blood:	n/a	n/a
22	BCL3	chr12:123635797-123636581	GM12878	blood:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
23	BCL3	chr12:123717029-123718115	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
24	BCL3	chr12:123626118-123627170	A549	lung:	n/a	n/a
25	BCL3	chr12:123626139-123627079	A549	lung:	n/a	n/a
26	BCL3	chr12:123717059-123718641	A549	lung:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
27	BCL3	chr12:123635853-123636704	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
28	BCL3	chr12:123635804-123636673	A549	lung:	n/a	chr12:123635880-123635893 chr12:123635879-123635888 chr12:123635882-123635891
29	BCLAF1	chr12:123721858-123723038	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:123707707-123708158	GM12878	blood:	n/a	n/a
31	BCLAF1	chr12:123721174-123721652	GM12878	blood:	n/a	n/a
32	BCLAF1	chr12:123716970-123717770	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
33	BCLAF1	chr12:123707708-123708248	GM12878	blood:	n/a	n/a
34	BCLAF1	chr12:123717123-123717822	GM12878	blood:	n/a	chr12:123717629-123717642 chr12:123717440-123717453 chr12:123717624-123717637 chr12:123717364-123717373 chr12:123717592-123717600
35	BCLAF1	chr12:123636108-123636415	GM12878	blood:	n/a	n/a
36	BHLHE40	chr12:123717255-123718246	GM12878	blood:	n/a	chr12:123717626-123717642
37	BHLHE40	chr12:123635332-123635746	K562	blood:	n/a	chr12:123635487-123635503
38	BHLHE40	chr12:123634019-123634309	K562	blood:	n/a	n/a
39	BHLHE40	chr12:123635350-123635686	HepG2	liver:	n/a	chr12:123635487-123635503
40	BHLHE40	chr12:123635338-123635679	GM12878	blood:	n/a	chr12:123635487-123635503
41	BHLHE40	chr12:123633179-123633276	K562	blood:	n/a	n/a
42	BHLHE40	chr12:123716701-123716744	K562	blood:	n/a	n/a
43	BHLHE40	chr12:123616636-123616830	K562	blood:	n/a	n/a
44	BHLHE40	chr12:123721200-123721652	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:123717227-123718520	K562	blood:	n/a	chr12:123717626-123717642
46	BHLHE40	chr12:123707720-123708034	GM12878	blood:	n/a	n/a
47	BHLHE40	chr12:123722645-123722914	GM12878	blood:	n/a	n/a
48	BRCA1	chr12:123718272-123718441	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr12:123717314-123718046	HepG2	liver:	n/a	n/a
50	BRCA1	chr12:123717103-123718049	Hela-S3	cervix:	n/a	n/a

(count:2566 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123717888-123717938	PFSK-1	brain:	n/a
2	chr12:123717786-123717836	HIPEpiC	eye:	n/a
3	chr12:123717984-123718034	PrEC	prostate:	n/a
4	chr12:123634384-123634434	HNPCEpiC	eye:	n/a
5	chr12:123717888-123717938	PFSK-1	brain:	n/a
6	chr12:123717786-123717836	HIPEpiC	eye:	n/a
7	chr12:123717984-123718034	PrEC	prostate:	n/a
8	chr12:123634384-123634434	HNPCEpiC	eye:	n/a
9	chr12:123636548-123636598	BJ	skin:	n/a
10	chr12:123633306-123633356	GM19239	blood:	n/a
11	chr12:123718415-123718465	HCT-116	colon:	n/a
12	chr12:123706092-123706142	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:123718047-123718097	AG09309	skin:	n/a
14	chr12:123718415-123718465	AG09309	skin:	n/a
15	chr12:123718706-123718756	SKMC	muscle:	n/a
16	chr12:123636505-123636555	ovcar-3	ovarian:	n/a
17	chr12:123632825-123632875	CMK	blood:	n/a
18	chr12:123633728-123633778	GM12891	blood:	n/a
19	chr12:123635215-123635265	HepG2	liver:	n/a
20	chr12:123718369-123718419	HCPEpiC	choroid plexus:	n/a
21	chr12:123718369-123718419	Hepatocyte	liver:	n/a
22	chr12:123718706-123718756	T-47D	breast:	n/a
23	chr12:123635770-123635820	HPAEpiC	pulmonary alveolar:	n/a
24	chr12:123717786-123717836	AG04449	skin:	fetal
25	chr12:123626132-123626182	HCT-116	colon:	n/a
26	chr12:123706092-123706142	HCF	heart:	n/a
27	chr12:123637556-123637606	BE2_C	brain:	n/a
28	chr12:123717421-123717471	HEK293	kidney:	embryo
29	chr12:123717050-123717100	PANC-1	pancreas:	n/a
30	chr12:123718369-123718419	AoSMC	blood vessel:	n/a
31	chr12:123636279-123636329	Caco-2	colon:	n/a
32	chr12:123717984-123718034	K562	blood:	n/a
33	chr12:123634957-123635007	SKMC	muscle:	n/a
34	chr12:123717050-123717100	MCF10A-Er-Src	breast:	n/a
35	chr12:123717773-123717823	HMEC	breast:	n/a
36	chr12:123718369-123718419	T-47D	breast:	n/a
37	chr12:123713553-123713603	T-47D	breast:	n/a
38	chr12:123707825-123707875	A549	lung:	n/a
39	chr12:123637556-123637606	SK-N-SH_RA	brain:	n/a
40	chr12:123718706-123718756	ProgFib	skin:	n/a
41	chr12:123718121-123718171	AG10803	skin:	n/a
42	chr12:123639610-123639660	Hela-S3	cervix:	n/a
43	chr12:123713553-123713603	HCPEpiC	choroid plexus:	n/a
44	chr12:123717776-123717826	PANC-1	pancreas:	n/a
45	chr12:123717050-123717100	Jurkat	blood:	n/a
46	chr12:123717480-123717530	HCPEpiC	choroid plexus:	n/a
47	chr12:123717050-123717100	HCM	heart:	n/a
48	chr12:123634159-123634209	HEEpiC	esophagus:	n/a
49	chr12:123637556-123637606	K562	blood:	n/a
50	chr12:123633728-123633778	RPTEC	kidney:	n/a

(count:201 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr12:123616804..123619547-chr12:123619557..123621511,2	K562	blood:
2	chr12:123717145..123718094-chr2:88315035..88316515,4	Hela-S3	cervix:
3	chr12:123717253..123719001-chr12:123746538..123748497,2	K562	blood:
4	chr12:123452751..123454277-chr12:123718785..123720840,2	MCF-7	breast:
5	chr12:123716801..123717680-chr3:168863866..168864454,2	Hela-S3	cervix:
6	chr12:123716997..123718069-chr2:74425440..74426291,3	Hela-S3	cervix:
7	chr12:123380300..123383026-chr12:123716228..123718007,3	K562	blood:
8	chr12:123463900..123467066-chr12:123633750..123636695,4	K562	blood:
9	chr12:123344694..123345413-chr12:123721340..123722280,2	K562	blood:
10	chr12:123597677..123600543-chr12:123624922..123626506,2	K562	blood:
11	chr12:123609913..123612055-chr12:123613874..123616292,2	K562	blood:
12	chr12:123646238..123649040-chr12:123654980..123656575,2	MCF-7	breast:
13	chr12:123458168..123460396-chr12:123636633..123638279,2	K562	blood:
14	chr12:123646433..123649058-chr12:123716040..123717583,2	MCF-7	breast:
15	chr12:123573881..123576493-chr12:123631498..123633206,2	K562	blood:
16	chr12:123639375..123642354-chr12:123646005..123648367,2	K562	blood:
17	chr12:123717288..123717984-chr5:10250336..10250866,2	Hela-S3	cervix:
18	chr12:123632948..123634613-chr12:123717747..123719847,2	K562	blood:
19	chr12:123716817..123718990-chr12:124117809..124119418,3	K562	blood:
20	chr12:123702115..123705680-chr12:123713540..123715755,3	MCF-7	breast:
21	chr12:123457561..123459704-chr12:123712281..123714160,2	K562	blood:
22	chr12:123717014..123719935-chr12:123753310..123757333,7	K562	blood:
23	chr12:123448459..123450718-chr12:123723367..123726106,2	K562	blood:
24	chr12:123449911..123452361-chr12:123721707..123723952,2	MCF-7	breast:
25	chr12:123716353..123719935-chr12:123753594..123757800,6	K562	blood:
26	chr12:123717168..123717889-chr4:4861025..4861753,2	HCT-116	colon:
27	chr12:123616297..123618408-chr12:123632574..123634282,2	MCF-7	breast:
28	chr12:123646433..123649058-chr12:123716040..123717583,2	MCF-7	breast:
29	chr12:123350122..123350678-chr12:123722363..123722904,2	MCF-7	breast:
30	chr12:123601284..123602809-chr12:123617657..123619807,2	K562	blood:
31	chr12:123558968..123563276-chr12:123716606..123719909,6	MCF-7	breast:
32	chr12:123624513..123626615-chr12:123631268..123633682,3	K562	blood:
33	chr12:123717306..123717988-chr6:31620372..31621088,2	Hela-S3	cervix:
34	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
35	chr12:123639375..123642354-chr12:123646005..123648367,2	K562	blood:
36	chr12:123572033..123574243-chr12:123627306..123629802,2	MCF-7	breast:
37	chr12:123459026..123459635-chr12:123635355..123635887,2	K562	blood:
38	chr12:123717152..123717980-chr17:27895730..27896230,2	HCT-116	colon:
39	chr12:123464791..123466594-chr12:123677706..123679809,2	MCF-7	breast:
40	chr12:123624513..123626615-chr12:123631268..123633682,3	K562	blood:
41	chr12:123704862..123707251-chr12:123716101..123718102,3	MCF-7	breast:
42	chr12:123715622..123719446-chr12:123735072..123738647,4	K562	blood:
43	chr12:123715079..123721002-chr12:123721919..123730378,16	K562	blood:
44	chr12:123461071..123463448-chr12:123634660..123637484,2	K562	blood:
45	chr12:123527734..123528656-chr12:123722305..123723382,7	MCF-7	breast:
46	chr12:123717061..123717754-chr9:77643240..77643995,2	Hela-S3	cervix:
47	chr12:123445391..123447218-chr12:123635321..123636848,2	K562	blood:
48	chr11:67168900..67169444-chr12:123717028..123717926,2	Hela-S3	cervix:
49	chr1:210547214..210547754-chr12:123717301..123717877,2	Hela-S3	cervix:
50	chr12:123442313..123444976-chr12:123717456..123719233,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPHOSPH9-1	chr12:123636867-123637172	NONHSAT031566
2	lnc-MPHOSPH9-1	chr12:123640235-123640363	NONHSAT031566
3	lnc-PITPNM2-1	chr12:123714584-123715069	NONHSAT031568
4	lnc-MPHOSPH9-1	chr12:123638929-123638977	NONHSAT031566
5	lnc-PITPNM2-1	chr12:123717622-123717648	NONHSAT031568

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MPHOSPH9	hsa-miR-130b-3p	chr12:123641318-123641311
2	MPHOSPH9	hsa-miR-19b-3p	chr12:123641319-123641313
3	MPHOSPH9	hsa-miR-340-5p	chr12:123641262-123641283
4	MPHOSPH9	hsa-miR-340-5p	chr12:123641008-123641030
5	MPHOSPH9	hsa-miR-340-5p	chr12:123641098-123641117
6	MPHOSPH9	hsa-miR-340-5p	chr12:123641208-123641229
7	MPHOSPH9	hsa-miR-19b-3p	chr12:123641313-123641340
8	MPHOSPH9	hsa-miR-130b-3p	chr12:123641312-123641331

Variant related genes	Relation type
PITPNM2	TF binding region
C12orf65	TF binding region
MPHOSPH9	TF binding region
PITPNM2	CpG island
C12orf65	CpG island
MPHOSPH9	CpG island
ENSG00000124635	chromatin interactions
ENSG00000213977	chromatin interactions
ENSG00000269980	chromatin interactions
ENSG00000163132	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000167543	chromatin interactions
ENSG00000143578	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000156017	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000065911	chromatin interactions
ENSG00000137824	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000072864	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000161618	chromatin interactions
ENSG00000104872	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000161547	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000181788	chromatin interactions
ENSG00000127774	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000196123	chromatin interactions
ENSG00000154640	chromatin interactions
ENSG00000152601	chromatin interactions
ENSG00000085276	chromatin interactions
ENSG00000172531	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000204463	chromatin interactions
ENSG00000164190	chromatin interactions
ENSG00000265526	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000090975	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000182196	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000073584	chromatin interactions
ENSG00000143570	chromatin interactions
ENSG00000183955	chromatin interactions

Extended variants
information (count: 3777 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3777 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574570084	chr12:123616065-123616066	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184306966	chr12:123616102-123616103	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553818025	chr12:123616105-123616106	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542554120	chr12:123616123-123616124	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572003401	chr12:123616171-123616172	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545345095	chr12:123616184-123616185	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563746190	chr12:123616206-123616207	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs531271799	chr12:123616209-123616210	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs543134439	chr12:123616242-123616243	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs562285134	chr12:123616248-123616249	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs151087142	chr12:123616293-123616294	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs548061306	chr12:123616346-123616347	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs557546351	chr12:123616416-123616417	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549507944	chr12:123616468-123616469	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs1727294	chr12:123616514-123616515	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs533670589	chr12:123616551-123616552	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551759376	chr12:123616552-123616553	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570084241	chr12:123616555-123616556	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs537517606	chr12:123616557-123616558	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555611033	chr12:123616631-123616632	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568231948	chr12:123616643-123616644	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535336079	chr12:123616661-123616662	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs373141426	chr12:123616731-123616732	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189053204	chr12:123616757-123616758	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538668383	chr12:123616781-123616782	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539360634	chr12:123616794-123616795	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181603263	chr12:123616798-123616799	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs575660255	chr12:123616839-123616840	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs1727295	chr12:123616861-123616862	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs561672074	chr12:123616890-123616891	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575368042	chr12:123616895-123616896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs186311423	chr12:123616969-123616970	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541220070	chr12:123617033-123617034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs61955228	chr12:123617066-123617067	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs10658758	chr12:123617068-123617069	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113730740	chr12:123617069-123617070	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371507656	chr12:123617079-123617080	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs559906435	chr12:123617093-123617094	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190706267	chr12:123617106-123617107	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs141048348	chr12:123617180-123617181	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs180773351	chr12:123617199-123617200	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147754328	chr12:123617272-123617273	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs544276925	chr12:123617299-123617300	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530964823	chr12:123617314-123617315	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549449959	chr12:123617494-123617495	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567604503	chr12:123617522-123617523	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs561573862	chr12:123617558-123617559	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs547238035	chr12:123617589-123617590	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370472792	chr12:123617606-123617607	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150259298	chr12:123617608-123617609	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
head and neck squamous cell carcinoma	24351288	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4711 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
3	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:123607600-123619600	Genic enhancers	Fetal Thymus	thymus
5	chr12:123610000-123620400	Enhancers	Placenta	Placenta
6	chr12:123611000-123617400	Enhancers	Primary B cells from cord blood	blood
7	chr12:123611400-123616200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:123611400-123624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:123611600-123616200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:123611600-123616600	Weak transcription	Liver	Liver
11	chr12:123611600-123617400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:123611800-123616200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:123611800-123616200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:123611800-123616200	Weak transcription	Psoas Muscle	Psoas
15	chr12:123611800-123616200	Weak transcription	Small Intestine	intestine
16	chr12:123611800-123616600	Weak transcription	GM12878-XiMat	blood
17	chr12:123611800-123618000	Enhancers	A549	lung
18	chr12:123611800-123624400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:123611800-123624400	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:123611800-123624600	Weak transcription	Aorta	Aorta
21	chr12:123612000-123616200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:123612000-123616200	Weak transcription	Right Atrium	heart
23	chr12:123612000-123616200	Weak transcription	Stomach Mucosa	stomach
24	chr12:123612000-123617400	Weak transcription	HepG2	liver
25	chr12:123612000-123618600	Weak transcription	Fetal Intestine Small	intestine
26	chr12:123612000-123624000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:123612000-123624600	Weak transcription	NH-A	brain
28	chr12:123612800-123616200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:123613600-123620400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:123614000-123617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:123614000-123619200	Enhancers	NHEK	skin
32	chr12:123614200-123616200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:123614200-123616200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:123614200-123616200	Enhancers	Duodenum Mucosa	Duodenum
35	chr12:123614200-123616400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:123614200-123616400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr12:123614200-123616400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr12:123614200-123616600	Enhancers	Primary B cells from peripheral blood	blood
39	chr12:123614200-123618000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr12:123614200-123620400	Enhancers	HMEC	breast
41	chr12:123614400-123616800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:123614600-123616200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr12:123614600-123616600	Enhancers	Fetal Intestine Large	intestine
44	chr12:123614600-123616800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:123614600-123618000	Enhancers	NHDF-Ad	bronchial
46	chr12:123614800-123616200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr12:123614800-123617000	Enhancers	Fetal Muscle Trunk	muscle
48	chr12:123614800-123617000	Enhancers	Left Ventricle	heart
49	chr12:123614800-123618000	Enhancers	Fetal Muscle Leg	muscle
50	chr12:123614800-123618200	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links