Variant report

Variant	esv1792521
Chromosome Location	chr12:56575188-56587576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1256)
CpG islands
(count:611)
Chromatin interactive
region (count:92)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1256 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:56586751-56587079	K562	blood:	n/a	n/a
2	ARID3A	chr12:56583443-56583510	K562	blood:	n/a	n/a
3	ARID3A	chr12:56586781-56587070	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:56583394-56583594	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:56583856-56584290	K562	blood:	n/a	n/a
6	ATF2	chr12:56583648-56584347	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:56583893-56584343	GM12878	blood:	n/a	n/a
8	ATF2	chr12:56583899-56584349	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr12:56583851-56584426	GM12878	blood:	n/a	n/a
10	ATF3	chr12:56583837-56584368	K562	blood:	n/a	n/a
11	ATF3	chr12:56583343-56584571	A549	lung:	n/a	chr12:56583408-56583417
12	ATF3	chr12:56583237-56584493	A549	lung:	n/a	chr12:56583408-56583417
13	BACH1	chr12:56583880-56584102	K562	blood:	n/a	n/a
14	BACH1	chr12:56583466-56583664	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr12:56583800-56584381	A549	lung:	n/a	n/a
16	BCL3	chr12:56583377-56584359	A549	lung:	n/a	chr12:56583412-56583421 chr12:56583410-56583423 chr12:56583458-56583467 chr12:56583415-56583424 chr12:56583409-56583418
17	BCLAF1	chr12:56583379-56583669	GM12878	blood:	n/a	chr12:56583412-56583421 chr12:56583410-56583423 chr12:56583458-56583467 chr12:56583415-56583424 chr12:56583409-56583418
18	BCLAF1	chr12:56583189-56584351	GM12878	blood:	n/a	chr12:56583412-56583421 chr12:56583410-56583423 chr12:56583458-56583467 chr12:56583415-56583424 chr12:56583409-56583418
19	BDP1	chr12:56583895-56584323	K562	blood:	n/a	n/a
20	BDP1	chr12:56583888-56584344	Hela-S3	cervix:	n/a	n/a
21	BHLHE40	chr12:56583278-56583589	GM12878	blood:	n/a	chr12:56583405-56583421
22	BHLHE40	chr12:56583367-56584275	K562	blood:	n/a	chr12:56583405-56583421
23	BRCA1	chr12:56583960-56584220	HepG2	liver:	n/a	n/a
24	BRCA1	chr12:56583935-56584273	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr12:56583960-56584296	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:56584008-56584269	GM12878	blood:	n/a	n/a
27	BRCA1	chr12:56583450-56583690	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr12:56583372-56583559	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRF1	chr12:56583959-56584297	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr12:56583363-56583615	K562	blood:	n/a	n/a
31	CBX3	chr12:56583299-56583717	K562	blood:	n/a	n/a
32	CBX3	chr12:56586734-56587463	K562	blood:	n/a	n/a
33	CBX3	chr12:56583784-56584944	K562	blood:	n/a	n/a
34	CBX3	chr12:56583700-56584263	K562	blood:	n/a	n/a
35	CCNT2	chr12:56583094-56584196	K562	blood:	n/a	chr12:56584024-56584033
36	CEBPB	chr12:56580428-56580642	A549	lung:	n/a	chr12:56580462-56580473
37	CEBPB	chr12:56583435-56583616	HepG2	liver:	n/a	n/a
38	CEBPB	chr12:56575950-56576103	IMR90	lung:	n/a	n/a
39	CEBPB	chr12:56583900-56584311	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr12:56575894-56576193	HepG2	liver:	n/a	n/a
41	CEBPB	chr12:56580455-56580687	K562	blood:	n/a	chr12:56580462-56580473
42	CEBPB	chr12:56583834-56584363	A549	lung:	n/a	n/a
43	CEBPB	chr12:56583954-56584257	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr12:56575817-56576109	A549	lung:	n/a	n/a
45	CEBPB	chr12:56580422-56580621	HepG2	liver:	n/a	chr12:56580462-56580473
46	CEBPB	chr12:56583978-56584251	K562	blood:	n/a	n/a
47	CEBPB	chr12:56583957-56584239	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr12:56583745-56584377	GM12878	blood:	n/a	n/a
49	CEBPB	chr12:56583899-56584344	HepG2	liver:	n/a	n/a
50	CEBPB	chr12:56584682-56584964	K562	blood:	n/a	chr12:56584825-56584838

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:56584181-56584231	NHDF-neo	bronchial:	n/a
2	chr12:56584181-56584231	NHDF-neo	bronchial:	n/a
3	chr12:56587526-56587576	CMK	blood:	n/a
4	chr12:56584202-56584252	HEEpiC	esophagus:	n/a
5	chr12:56583123-56583173	AG04449	skin:	fetal
6	chr12:56583490-56583540	AG04450	lung:	fetal
7	chr12:56587526-56587576	LNCaP	prostate:	n/a
8	chr12:56584181-56584231	AoSMC	blood vessel:	n/a
9	chr12:56584181-56584231	Caco-2	colon:	n/a
10	chr12:56583610-56583660	LNCaP	prostate:	n/a
11	chr12:56583610-56583660	Jurkat	blood:	n/a
12	chr12:56583123-56583173	AG10803	skin:	n/a
13	chr12:56584202-56584252	HUVEC	blood vessel:	n/a
14	chr12:56583610-56583660	Caco-2	colon:	n/a
15	chr12:56583252-56583302	HEEpiC	esophagus:	n/a
16	chr12:56580425-56580475	Jurkat	blood:	n/a
17	chr12:56587526-56587576	HNPCEpiC	eye:	n/a
18	chr12:56580425-56580475	HRE	kidney:	n/a
19	chr12:56584075-56584125	ovcar-3	ovarian:	n/a
20	chr12:56587526-56587576	ovcar-3	ovarian:	n/a
21	chr12:56584075-56584125	HCPEpiC	choroid plexus:	n/a
22	chr12:56587526-56587576	Hepatocyte	liver:	n/a
23	chr12:56583536-56583586	BE2_C	brain:	n/a
24	chr12:56583536-56583586	HRPEpiC	eye:	n/a
25	chr12:56583123-56583173	HCPEpiC	choroid plexus:	n/a
26	chr12:56584181-56584231	Hepatocyte	liver:	n/a
27	chr12:56583252-56583302	AG09309	skin:	n/a
28	chr12:56584202-56584252	GM12891	blood:	n/a
29	chr12:56587526-56587576	NHBE	bronchial:	n/a
30	chr12:56583610-56583660	GM06990	blood:	n/a
31	chr12:56584202-56584252	NB4	blood:	n/a
32	chr12:56583610-56583660	PANC-1	pancreas:	n/a
33	chr12:56587526-56587576	GM12891	blood:	n/a
34	chr12:56583252-56583302	PFSK-1	brain:	n/a
35	chr12:56580425-56580475	HL-60	blood:	n/a
36	chr12:56583490-56583540	HMEC	breast:	n/a
37	chr12:56584181-56584231	SK-N-SH	brain:	n/a
38	chr12:56584075-56584125	PANC-1	pancreas:	n/a
39	chr12:56583252-56583302	AG09319	gingival:	n/a
40	chr12:56583123-56583173	Jurkat	blood:	n/a
41	chr12:56584075-56584125	HEK293	kidney:	embryo
42	chr12:56583252-56583302	K562	blood:	n/a
43	chr12:56583536-56583586	HCM	heart:	n/a
44	chr12:56583123-56583173	GM12878	blood:	n/a
45	chr12:56583490-56583540	PANC-1	pancreas:	n/a
46	chr12:56587526-56587576	HRPEpiC	eye:	n/a
47	chr12:56583252-56583302	NT2-D1	testis:	n/a
48	chr12:56580425-56580475	IMR90	lung:	fetal
49	chr12:56583123-56583173	HEEpiC	esophagus:	n/a
50	chr12:56584202-56584252	A549	lung:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:56508832..56515879-chr12:56578376..56587782,37	MCF-7	breast:
2	chr12:56585246..56588428-chr12:56614900..56617909,3	K562	blood:
3	chr12:56586759..56587327-chr12:56617579..56618099,2	K562	blood:
4	chr12:56473548..56475475-chr12:56582788..56585025,2	K562	blood:
5	chr12:56471773..56473487-chr12:56580926..56582865,2	MCF-7	breast:
6	chr12:56583086..56583882-chr3:54156501..54157004,2	K562	blood:
7	chr12:56510204..56512545-chr12:56576021..56578034,3	MCF-7	breast:
8	chr12:56434529..56437485-chr12:56581091..56583996,4	K562	blood:
9	chr12:56586505..56587138-chr12:56697609..56698153,2	K562	blood:
10	chr12:56583235..56585154-chr12:56650552..56653890,4	MCF-7	breast:
11	chr12:56585028..56587108-chr12:56870013..56872276,2	K562	blood:
12	chr12:56579692..56581348-chr12:56583064..56584719,2	MCF-7	breast:
13	chr12:56583246..56583812-chr12:56617774..56618395,2	MCF-7	breast:
14	chr12:56586863..56587398-chr20:52815893..52816458,2	MCF-7	breast:
15	chr12:56550919..56553692-chr12:56586554..56588922,4	MCF-7	breast:
16	chr12:56507991..56525761-chr12:56579808..56586137,68	MCF-7	breast:
17	chr12:56438264..56440489-chr12:56580278..56583013,2	K562	blood:
18	chr12:56586468..56587362-chr12:56618102..56618609,2	K562	blood:
19	chr12:56580530..56583816-chr12:56859558..56862740,3	K562	blood:
20	chr12:56579972..56582129-chr12:56725989..56727563,2	MCF-7	breast:
21	chr12:56579404..56590957-chr12:56614094..56620955,25	MCF-7	breast:
22	chr12:56471914..56476515-chr12:56581933..56586574,4	MCF-7	breast:
23	chr12:56586156..56586984-chr12:56664337..56665590,4	K562	blood:
24	chr12:56480948..56483944-chr12:56582412..56584224,2	MCF-7	breast:
25	chr12:56551518..56552159-chr12:56582778..56583751,4	MCF-7	breast:
26	chr12:56510353..56513279-chr12:56574826..56576600,2	MCF-7	breast:
27	chr12:56368058..56369661-chr12:56581605..56583172,2	MCF-7	breast:
28	chr12:56583418..56584005-chr12:56651692..56652463,2	MCF-7	breast:
29	chr12:56586857..56589581-chr12:56659506..56661995,3	K562	blood:
30	chr12:56583291..56584232-chr12:56617785..56618516,2	MCF-7	breast:
31	chr12:56576347..56579286-chr12:56579606..56581854,6	MCF-7	breast:
32	chr12:56583197..56585219-chr12:56650966..56653576,3	MCF-7	breast:
33	chr12:56551464..56551970-chr12:56582916..56583452,2	K562	blood:
34	chr12:56582327..56583849-chr12:56861847..56864785,2	MCF-7	breast:
35	chr12:56583077..56583903-chr12:56651754..56652414,2	MCF-7	breast:
36	chr12:56473891..56477008-chr12:56583227..56585798,3	MCF-7	breast:
37	chr12:56582084..56583845-chr12:56753291..56755155,2	MCF-7	breast:
38	chr12:56587021..56588859-chr12:56589335..56591396,2	MCF-7	breast:
39	chr12:56576539..56578813-chr12:56582057..56584361,3	MCF-7	breast:
40	chr12:56579705..56582945-chr12:57008774..57012343,3	K562	blood:
41	chr12:56518748..56521067-chr12:56579953..56581524,2	MCF-7	breast:
42	chr12:56583529..56586106-chr12:57117314..57120068,2	MCF-7	breast:
43	chr12:56434140..56437753-chr12:56579716..56586472,8	K562	blood:
44	chr12:56586441..56587443-chr12:56651254..56652663,6	K562	blood:
45	chr12:56438470..56440539-chr12:56581199..56583152,2	MCF-7	breast:
46	chr12:56586878..56587381-chr12:56696043..56696785,2	K562	blood:
47	chr12:56586539..56587376-chr12:56600383..56600972,2	MCF-7	breast:
48	chr12:56571959..56574915-chr12:56577740..56582671,5	K562	blood:
49	chr12:56586864..56587386-chr12:56617508..56618290,2	MCF-7	breast:
50	chr12:56586459..56587403-chr12:56857786..56858751,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SMARCC2-1	chr12:56583857-56584068	ENSG00000258199.1

No data

Variant related genes	Relation type
ENSG00000258199	TF binding region
RN7SL770P	TF binding region
SMARCC2	TF binding region
ENSG00000258199	CpG island
RN7SL770P	CpG island
SMARCC2	CpG island
ENSG00000181852	chromatin interactions
ENSG00000257303	chromatin interactions
ENSG00000258345	chromatin interactions
ENSG00000135469	chromatin interactions
ENSG00000257727	chromatin interactions
ENSG00000144785	chromatin interactions
ENSG00000135473	chromatin interactions
ENSG00000139613	chromatin interactions
ENSG00000176422	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000266023	chromatin interactions
ENSG00000257809	chromatin interactions
ENSG00000135517	chromatin interactions
ENSG00000157445	chromatin interactions
ENSG00000258199	chromatin interactions
ENSG00000135423	chromatin interactions
ENSG00000006194	chromatin interactions
ENSG00000170581	chromatin interactions
ENSG00000139645	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000139579	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000065361	chromatin interactions
ENSG00000257449	chromatin interactions
ENSG00000196531	chromatin interactions
ENSG00000100504	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000062485	chromatin interactions
ENSG00000196465	chromatin interactions
ENSG00000258317	chromatin interactions
ENSG00000063169	chromatin interactions
ENSG00000197728	chromatin interactions
ENSG00000139540	chromatin interactions

Extended variants
information (count: 427 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs773643	chr12:56575188-56575189	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536069660	chr12:56575200-56575201	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs375807258	chr12:56575209-56575210	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs376991831	chr12:56575231-56575232	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs374019483	chr12:56575238-56575239	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs370348928	chr12:56575240-56575241	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs373707867	chr12:56575241-56575242	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs376072813	chr12:56575250-56575251	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs148204813	chr12:56575313-56575314	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs200224449	chr12:56575320-56575321	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs370364299	chr12:56575321-56575322	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs140180774	chr12:56575338-56575339	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs201394045	chr12:56575379-56575380	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs374326559	chr12:56575390-56575391	Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs374745583	chr12:56575402-56575403	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs368801871	chr12:56575449-56575450	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs371778203	chr12:56575458-56575459	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs200469263	chr12:56575459-56575460	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs199558872	chr12:56575494-56575495	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs369279103	chr12:56575528-56575529	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs150329061	chr12:56575563-56575564	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs111398545	chr12:56575595-56575596	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs113040780	chr12:56575600-56575601	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs199769527	chr12:56575632-56575633	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs577644860	chr12:56575675-56575676	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs558250190	chr12:56575688-56575689	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs116163528	chr12:56575720-56575721	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs527839757	chr12:56575737-56575738	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs549332920	chr12:56575741-56575742	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs773644	chr12:56575742-56575743	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115393141	chr12:56575757-56575758	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs184780751	chr12:56575813-56575814	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs187604787	chr12:56575825-56575826	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs35144716	chr12:56575834-56575835	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs373505591	chr12:56575860-56575861	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs548815638	chr12:56575869-56575870	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs201201444	chr12:56575881-56575882	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs117495605	chr12:56575891-56575892	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs377056627	chr12:56575899-56575900	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs536421117	chr12:56575924-56575925	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs554485811	chr12:56575982-56575983	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs150649550	chr12:56575984-56575985	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs575868744	chr12:56575985-56575986	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs536926649	chr12:56576070-56576071	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs76438338	chr12:56576077-56576078	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs577605727	chr12:56576089-56576090	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs59707524	chr12:56576121-56576122	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs34438655	chr12:56576143-56576144	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs572462938	chr12:56576171-56576172	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs543140767	chr12:56576172-56576173	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Wilms tumour	21544195	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
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	20531469	CNVD
Multiple myeloma	16616336	CNVD
Rhabdomyosarcoma	16790082	CNVD
Renal cell carcinoma	18765545	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21138945	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:970 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56554000-56582000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56554200-56581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:56555000-56575600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:56555000-56579800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:56555000-56580800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr12:56555000-56580800	Strong transcription	Brain Anterior Caudate	brain
7	chr12:56555000-56581000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:56555200-56578800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:56555200-56580600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:56555200-56580800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:56555400-56579000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:56555400-56580000	Strong transcription	Placenta	Placenta
13	chr12:56555400-56580600	Strong transcription	Thymus	Thymus
14	chr12:56555400-56580800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr12:56555400-56580800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr12:56555400-56580800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:56555600-56575400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:56555600-56576000	Strong transcription	Brain Cingulate Gyrus	brain
19	chr12:56555600-56580600	Strong transcription	Fetal Brain Female	brain
20	chr12:56555600-56580800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:56555600-56580800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:56555600-56580800	Strong transcription	Liver	Liver
23	chr12:56555600-56580800	Strong transcription	Osteobl	bone
24	chr12:56555800-56580200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:56555800-56580600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:56555800-56580600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:56555800-56580800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:56555800-56580800	Strong transcription	Fetal Thymus	thymus
29	chr12:56555800-56580800	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:56555800-56581000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:56556000-56578000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:56556000-56580800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:56556000-56580800	Strong transcription	Fetal Intestine Large	intestine
34	chr12:56556000-56581000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:56556000-56581000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:56556400-56580200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:56556400-56580400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:56556600-56579800	Strong transcription	Dnd41	blood
39	chr12:56556600-56580600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr12:56556600-56580600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr12:56556600-56580800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:56556600-56581000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:56556600-56581000	Strong transcription	Fetal Stomach	stomach
44	chr12:56556800-56580800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr12:56556800-56581000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:56556800-56581000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:56556800-56581000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:56557200-56581000	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:56557400-56580200	Strong transcription	Brain Germinal Matrix	brain
50	chr12:56557400-56580600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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