Variant report

Variant	esv3438770
Chromosome Location	chr12:1701716-1704664
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr12:1703905-1704290	A549	lung:	n/a	n/a
2	ATF3	chr12:1703979-1704186	K562	blood:	n/a	n/a
3	ATF3	chr12:1703921-1704219	HepG2	liver:	n/a	n/a
4	ATF3	chr12:1703691-1704192	A549	lung:	n/a	n/a
5	BACH1	chr12:1704012-1704359	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr12:1701812-1702390	GM12878	blood:	n/a	n/a
7	BCL3	chr12:1702399-1703218	A549	lung:	n/a	n/a
8	BCL3	chr12:1702811-1703565	GM12878	blood:	n/a	chr12:1703277-1703290 chr12:1703246-1703255 chr12:1703251-1703264
9	BCL3	chr12:1701804-1702431	GM12878	blood:	n/a	n/a
10	BCLAF1	chr12:1703961-1704290	GM12878	blood:	n/a	n/a
11	BCLAF1	chr12:1702596-1703225	GM12878	blood:	n/a	n/a
12	BCLAF1	chr12:1703326-1703559	GM12878	blood:	n/a	n/a
13	BHLHE40	chr12:1703541-1704274	HepG2	liver:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
14	BHLHE40	chr12:1703132-1704326	GM12878	blood:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703282-1703298 chr12:1703887-1703903
15	BHLHE40	chr12:1703673-1704161	A549	lung:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
16	BHLHE40	chr12:1701573-1702554	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:1701792-1702349	K562	blood:	n/a	n/a
18	BHLHE40	chr12:1703615-1704317	K562	blood:	n/a	chr12:1703756-1703772 chr12:1703860-1703876 chr12:1703887-1703903
19	BHLHE40	chr12:1702937-1703126	K562	blood:	n/a	n/a
20	BRCA1	chr12:1704097-1704217	H1-hESC	embryonic stem cell:	n/a	n/a
21	BRCA1	chr12:1704098-1704155	HepG2	liver:	n/a	n/a
22	BRCA1	chr12:1702026-1702381	GM12878	blood:	n/a	n/a
23	BRCA1	chr12:1703950-1704220	Hela-S3	cervix:	n/a	n/a
24	CBX3	chr12:1704032-1704330	K562	blood:	n/a	n/a
25	CCNT2	chr12:1701679-1704259	K562	blood:	n/a	chr12:1701691-1701700 chr12:1704222-1704231
26	CEBPB	chr12:1702722-1702807	HepG2	liver:	n/a	n/a
27	CEBPB	chr12:1702761-1702791	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr12:1703958-1704201	Hela-S3	cervix:	n/a	n/a
29	CEBPD	chr12:1703267-1703620	HepG2	liver:	n/a	n/a
30	CHD1	chr12:1703705-1704169	H1-hESC	embryonic stem cell:	n/a	chr12:1703926-1703936
31	CHD1	chr12:1701546-1702323	GM12878	blood:	n/a	n/a
32	CHD1	chr12:1701397-1706266	IMR90	lung:	n/a	chr12:1703237-1703247 chr12:1704434-1704444 chr12:1703259-1703269 chr12:1703926-1703936
33	CHD1	chr12:1702663-1704334	GM12878	blood:	n/a	chr12:1703237-1703247 chr12:1703259-1703269 chr12:1703926-1703936
34	CHD1	chr12:1702989-1703140	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr12:1702989-1703142	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr12:1703767-1704188	K562	blood:	n/a	chr12:1703926-1703936
37	CHD2	chr12:1702913-1703012	K562	blood:	n/a	n/a
38	CHD2	chr12:1702923-1702926	HepG2	liver:	n/a	n/a
39	CHD2	chr12:1702835-1704367	Hela-S3	cervix:	n/a	chr12:1703237-1703247 chr12:1703259-1703269 chr12:1703926-1703936
40	CHD2	chr12:1703861-1704103	HepG2	liver:	n/a	chr12:1703926-1703936
41	CHD2	chr12:1701565-1703513	GM12878	blood:	n/a	chr12:1703237-1703247 chr12:1703259-1703269
42	CHD2	chr12:1702293-1702483	H1-hESC	embryonic stem cell:	n/a	n/a
43	CREB1	chr12:1703583-1704242	A549	lung:	n/a	n/a
44	CREB1	chr12:1702782-1703562	A549	lung:	n/a	n/a
45	CTBP2	chr12:1703753-1704215	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr12:1701629-1703245	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr12:1701780-1701930	GM12864	blood:	n/a	chr12:1701864-1701877
48	CTCF	chr12:1704029-1704137	Lung_OC	lung:	n/a	n/a
49	CTCF	chr12:1704600-1704750	AG10803	skin:	n/a	n/a
50	CTCF	chr12:1704520-1704670	AG04450	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1702001-1702051	HRPEpiC	eye:	n/a
2	chr12:1704080-1704130	AG04450	lung:	fetal
3	chr12:1702001-1702051	GM06990	blood:	n/a
4	chr12:1703169-1703219	AG04449	skin:	fetal
5	chr12:1702874-1702924	MCF10A-Er-Src	breast:	n/a
6	chr12:1704156-1704206	HCF	heart:	n/a
7	chr12:1704263-1704313	GM06990	blood:	n/a
8	chr12:1704263-1704313	AG09319	gingival:	n/a
9	chr12:1703704-1703754	SAEC	small airway:	n/a
10	chr12:1703704-1703754	PrEC	prostate:	n/a
11	chr12:1702874-1702924	HIPEpiC	eye:	n/a
12	chr12:1704263-1704313	MCF-7	breast:	n/a
13	chr12:1702874-1702924	NB4	blood:	n/a
14	chr12:1703169-1703219	HCM	heart:	n/a
15	chr12:1704065-1704115	LNCaP	prostate:	n/a
16	chr12:1703704-1703754	NH-A	brain:	n/a
17	chr12:1702874-1702924	HL-60	blood:	n/a
18	chr12:1702116-1702166	PFSK-1	brain:	n/a
19	chr12:1703169-1703219	ProgFib	skin:	n/a
20	chr12:1704156-1704206	AG04450	lung:	fetal
21	chr12:1704065-1704115	GM12891	blood:	n/a
22	chr12:1704156-1704206	HPAEpiC	pulmonary alveolar:	n/a
23	chr12:1704065-1704115	HUVEC	blood vessel:	n/a
24	chr12:1704080-1704130	HCM	heart:	n/a
25	chr12:1703169-1703219	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:1702874-1702924	HMEC	breast:	n/a
27	chr12:1703181-1703231	BE2_C	brain:	n/a
28	chr12:1703169-1703219	Hepatocyte	liver:	n/a
29	chr12:1702001-1702051	GM19239	blood:	n/a
30	chr12:1703169-1703219	T-47D	breast:	n/a
31	chr12:1703704-1703754	Hela-S3	cervix:	n/a
32	chr12:1702116-1702166	U87	brain:	n/a
33	chr12:1702874-1702924	A549	lung:	n/a
34	chr12:1704065-1704115	HMEC	breast:	n/a
35	chr12:1702001-1702051	HNPCEpiC	eye:	n/a
36	chr12:1704065-1704115	PrEC	prostate:	n/a
37	chr12:1703704-1703754	Caco-2	colon:	n/a
38	chr12:1703704-1703754	Hepatocyte	liver:	n/a
39	chr12:1704065-1704115	U87	brain:	n/a
40	chr12:1704263-1704313	ovcar-3	ovarian:	n/a
41	chr12:1704156-1704206	ProgFib	skin:	n/a
42	chr12:1703704-1703754	ProgFib	skin:	n/a
43	chr12:1702001-1702051	PFSK-1	brain:	n/a
44	chr12:1702116-1702166	HMEC	breast:	n/a
45	chr12:1703181-1703231	Jurkat	blood:	n/a
46	chr12:1703181-1703231	GM12878	blood:	n/a
47	chr12:1703181-1703231	IMR90	lung:	fetal
48	chr12:1703704-1703754	SK-N-SH_RA	brain:	n/a
49	chr12:1704156-1704206	HEK293	kidney:	embryo
50	chr12:1703181-1703231	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:1700363..1702369-chr12:1703399..1707703,4	K562	blood:
2	chr12:1224466..1226137-chr12:1702484..1704918,2	MCF-7	breast:
3	chr12:1700533..1702051-chr12:1702617..1704531,2	MCF-7	breast:
4	chr12:1684651..1686904-chr12:1699807..1702010,2	K562	blood:
5	chr12:547432..549780-chr12:1702241..1704941,2	MCF-7	breast:
6	chr12:1699624..1701795-chr12:1708636..1710140,2	MCF-7	breast:
7	chr12:1703509..1704108-chr6:26216519..26217376,2	Hela-S3	cervix:
8	chr12:1401709..1403749-chr12:1700206..1701760,2	K562	blood:
9	chr12:1703157..1705505-chr12:1739226..1741204,2	MCF-7	breast:
10	chr12:1703685..1705372-chr12:1898619..1900530,2	K562	blood:
11	chr12:1057714..1059446-chr12:1702277..1704204,2	MCF-7	breast:
12	chr11:64645557..64646112-chr12:1703529..1704108,2	Hela-S3	cervix:
13	chr12:1703426..1704364-chr18:71959175..71959778,2	NB4	blood:
14	chr12:1703565..1707939-chr12:1709383..1712701,6	MCF-7	breast:

Variant related genes	Relation type
FBXL14	TF binding region
FBXL14	CpG island
ENSG00000187990	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000002016	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000111186	chromatin interactions
ENSG00000166347	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000171823	chromatin interactions
ENSG00000120647	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536515237	chr12:1701730-1701731	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554924609	chr12:1701732-1701733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145383159	chr12:1701734-1701735	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs372100810	chr12:1701751-1701752	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186520272	chr12:1701769-1701770	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576912503	chr12:1701831-1701832	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs374359005	chr12:1701871-1701872	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61912226	chr12:1701880-1701881	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574112460	chr12:1701907-1701908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542888762	chr12:1701936-1701937	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561252085	chr12:1701948-1701949	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531921029	chr12:1701967-1701968	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201833526	chr12:1702001-1702002	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375498068	chr12:1702002-1702003	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565356553	chr12:1702006-1702007	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs368293309	chr12:1702017-1702018	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371963951	chr12:1702027-1702028	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200891221	chr12:1702029-1702030	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199915869	chr12:1702041-1702042	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374888202	chr12:1702071-1702072	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369299777	chr12:1702080-1702081	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201000076	chr12:1702090-1702091	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547926021	chr12:1702104-1702105	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372960574	chr12:1702131-1702132	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374907012	chr12:1702138-1702139	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143417041	chr12:1702186-1702187	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199952746	chr12:1702210-1702211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2302029	chr12:1702219-1702220	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200417216	chr12:1702225-1702226	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369241562	chr12:1702228-1702229	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140261682	chr12:1702235-1702236	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs145352797	chr12:1702243-1702244	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs137977169	chr12:1702273-1702274	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569892746	chr12:1702291-1702292	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs140728063	chr12:1702294-1702295	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs149469845	chr12:1702315-1702316	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs561463486	chr12:1702336-1702337	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs377740646	chr12:1702402-1702403	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs150476806	chr12:1702415-1702416	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs138345317	chr12:1702417-1702418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs143873613	chr12:1702426-1702427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs570513689	chr12:1702444-1702445	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201029146	chr12:1702455-1702456	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs34042069	chr12:1702470-1702471	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs139247471	chr12:1702474-1702475	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs192581158	chr12:1702488-1702489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs143067327	chr12:1702498-1702499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs200460280	chr12:1702522-1702523	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs17852502	chr12:1702545-1702546	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs35510932	chr12:1702549-1702550	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1698800-1701800	Enhancers	Fetal Heart	heart
2	chr12:1699200-1702000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:1699200-1703200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:1699400-1703000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr12:1699400-1703000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr12:1699400-1703000	Flanking Active TSS	Osteobl	bone
7	chr12:1699600-1701800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1699600-1702000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:1699600-1702000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:1699600-1702000	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:1699600-1703200	Flanking Active TSS	HMEC	breast
12	chr12:1699800-1701800	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr12:1699800-1702000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:1699800-1703000	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr12:1699800-1703200	Flanking Active TSS	HUVEC	blood vessel
16	chr12:1700000-1703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:1700200-1701800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
18	chr12:1700200-1702000	Active TSS	Right Atrium	heart
19	chr12:1700200-1702200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:1700400-1703200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:1700400-1703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:1700600-1702600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr12:1700600-1702600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:1700600-1703000	Flanking Active TSS	K562	blood
25	chr12:1700600-1703200	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr12:1700600-1704400	Active TSS	Brain Germinal Matrix	brain
27	chr12:1700800-1702000	Flanking Active TSS	HSMM	muscle
28	chr12:1700800-1702200	Flanking Active TSS	Fetal Brain Male	brain
29	chr12:1700800-1702400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr12:1700800-1702800	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr12:1700800-1703000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr12:1700800-1703000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr12:1700800-1703000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr12:1700800-1703000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
35	chr12:1700800-1704600	Active TSS	Ovary	ovary
36	chr12:1701000-1701800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:1701000-1701800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr12:1701000-1701800	Active TSS	Fetal Brain Female	brain
39	chr12:1701000-1702000	Active TSS	Gastric	stomach
40	chr12:1701000-1702200	Active TSS	Aorta	Aorta
41	chr12:1701000-1703000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:1701000-1704800	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:1701200-1701800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr12:1701200-1701800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:1701200-1701800	Active TSS	Brain Cingulate Gyrus	brain
46	chr12:1701200-1701800	Active TSS	Brain Substantia Nigra	brain
47	chr12:1701200-1701800	Active TSS	HSMMtube	muscle
48	chr12:1701200-1702000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:1701200-1702000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
50	chr12:1701200-1702000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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