Variant report

Variant	esv3326333
Chromosome Location	chr12:8849735-8851733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:430)
CpG islands
(count:549)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:8850095-8851422	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:8850636-8850711	K562	blood:	n/a	n/a
3	BHLHE40	chr12:8851124-8851312	GM12878	blood:	n/a	n/a
4	BHLHE40	chr12:8850214-8851537	K562	blood:	n/a	chr12:8850408-8850424
5	BRCA1	chr12:8850025-8850332	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr12:8849169-8849760	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr12:8851129-8851474	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr12:8850014-8850385	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr12:8850468-8850810	K562	blood:	n/a	n/a
10	CCNT2	chr12:8849895-8851555	K562	blood:	n/a	chr12:8851299-8851308 chr12:8850189-8850198 chr12:8850781-8850790 chr12:8850061-8850070
11	CEBPB	chr12:8851216-8851831	A549	lung:	n/a	n/a
12	CEBPB	chr12:8851074-8851902	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr12:8851107-8851943	IMR90	lung:	n/a	n/a
14	CEBPB	chr12:8850622-8850879	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr12:8851567-8851848	K562	blood:	n/a	n/a
16	CHD1	chr12:8850684-8850895	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr12:8851378-8851722	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr12:8849552-8850170	H1-hESC	embryonic stem cell:	n/a	chr12:8850020-8850030
19	CHD2	chr12:8849898-8851737	Hela-S3	cervix:	n/a	chr12:8851336-8851346 chr12:8851152-8851162 chr12:8850340-8850350 chr12:8850020-8850030 chr12:8851299-8851309
20	CHD2	chr12:8851196-8851396	H1-hESC	embryonic stem cell:	n/a	chr12:8851336-8851346 chr12:8851299-8851309
21	CHD2	chr12:8849700-8850885	H1-hESC	embryonic stem cell:	n/a	chr12:8850340-8850350 chr12:8850020-8850030
22	CHD2	chr12:8850108-8850259	GM12878	blood:	n/a	n/a
23	CHD2	chr12:8849469-8850357	K562	blood:	n/a	chr12:8850340-8850350 chr12:8850020-8850030
24	CHD2	chr12:8851238-8851448	K562	blood:	n/a	chr12:8851336-8851346 chr12:8851299-8851309
25	CHD2	chr12:8850005-8850371	HepG2	liver:	n/a	chr12:8850340-8850350 chr12:8850020-8850030
26	CHD2	chr12:8850591-8850916	K562	blood:	n/a	n/a
27	CREB1	chr12:8849891-8851185	A549	lung:	n/a	n/a
28	CREB1	chr12:8849915-8850755	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr12:8849884-8851331	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr12:8849700-8849850	HPF	lung:	n/a	n/a
31	CTCF	chr12:8849940-8850090	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr12:8849840-8849990	GM06990	blood:	n/a	n/a
33	CTCF	chr12:8849720-8849870	AG09319	gingival:	n/a	n/a
34	CTCF	chr12:8849740-8849890	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr12:8849940-8850090	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr12:8849805-8849857	K562	blood:	n/a	n/a
37	CTCF	chr12:8849740-8849890	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr12:8849780-8849930	BJ	skin:	n/a	n/a
39	CTCF	chr12:8849760-8849910	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr12:8850501-8850519	Lung_OC	lung:	n/a	n/a
41	CTCF	chr12:8849720-8849870	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr12:8849680-8849830	HMEC	breast:	n/a	n/a
43	CTCF	chr12:8849720-8849870	AG04449	skin:	n/a	n/a
44	CTCF	chr12:8849772-8849813	GM12892	blood:	n/a	n/a
45	CTCF	chr12:8849781-8849831	GM19238	blood:	n/a	n/a
46	CTCF	chr12:8849759-8849842	A549	lung:	n/a	n/a
47	CTCF	chr12:8849700-8849850	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr12:8849660-8849810	HCPEpiC	choroid plexus:	n/a	n/a
49	CTCF	chr12:8849760-8849830	GM12891	blood:	n/a	n/a
50	CTCF	chr12:8849700-8849850	HCPEpiC	choroid plexus:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8851234-8851284	HRE	kidney:	n/a
2	chr12:8850385-8850435	ovcar-3	ovarian:	n/a
3	chr12:8851234-8851284	SK-N-SH_RA	brain:	n/a
4	chr12:8850385-8850435	ECC-1	luminal epithelium:	n/a
5	chr12:8850370-8850420	BE2_C	brain:	n/a
6	chr12:8850367-8850417	AoSMC	blood vessel:	n/a
7	chr12:8850367-8850417	K562	blood:	n/a
8	chr12:8850939-8850989	SK-N-SH_RA	brain:	n/a
9	chr12:8850719-8850769	RPTEC	kidney:	n/a
10	chr12:8849781-8849831	AG04450	lung:	fetal
11	chr12:8849911-8849961	HAEpiC	amniotic membrane:	n/a
12	chr12:8849964-8850014	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:8849781-8849831	LNCaP	prostate:	n/a
14	chr12:8850385-8850435	NHBE	bronchial:	n/a
15	chr12:8849781-8849831	GM12892	blood:	n/a
16	chr12:8849964-8850014	MCF-7	breast:	n/a
17	chr12:8850370-8850420	GM12878	blood:	n/a
18	chr12:8850367-8850417	HRE	kidney:	n/a
19	chr12:8851234-8851284	HMEC	breast:	n/a
20	chr12:8849781-8849831	HMEC	breast:	n/a
21	chr12:8850385-8850435	SKMC	muscle:	n/a
22	chr12:8850367-8850417	AG04450	lung:	fetal
23	chr12:8851234-8851284	HRCEpiC	kidney:	n/a
24	chr12:8849911-8849961	AoSMC	blood vessel:	n/a
25	chr12:8850385-8850435	HCT-116	colon:	n/a
26	chr12:8850385-8850435	MCF10A-Er-Src	breast:	n/a
27	chr12:8849911-8849961	AG10803	skin:	n/a
28	chr12:8850385-8850435	HRE	kidney:	n/a
29	chr12:8850939-8850989	GM19239	blood:	n/a
30	chr12:8849964-8850014	HIPEpiC	eye:	n/a
31	chr12:8850939-8850989	SK-N-MC	brain:	n/a
32	chr12:8849781-8849831	GM19239	blood:	n/a
33	chr12:8849911-8849961	SK-N-MC	brain:	n/a
34	chr12:8849911-8849961	HRE	kidney:	n/a
35	chr12:8849911-8849961	T-47D	breast:	n/a
36	chr12:8850939-8850989	NHBE	bronchial:	n/a
37	chr12:8851234-8851284	CMK	blood:	n/a
38	chr12:8850370-8850420	BJ	skin:	n/a
39	chr12:8849964-8850014	GM19239	blood:	n/a
40	chr12:8850719-8850769	BE2_C	brain:	n/a
41	chr12:8849781-8849831	HRCEpiC	kidney:	n/a
42	chr12:8850385-8850435	HIPEpiC	eye:	n/a
43	chr12:8850719-8850769	AG04449	skin:	fetal
44	chr12:8850385-8850435	Hepatocyte	liver:	n/a
45	chr12:8850385-8850435	Jurkat	blood:	n/a
46	chr12:8849781-8849831	RPTEC	kidney:	n/a
47	chr12:8849964-8850014	AG09319	gingival:	n/a
48	chr12:8849781-8849831	IMR90	lung:	fetal
49	chr12:8850939-8850989	T-47D	breast:	n/a
50	chr12:8851234-8851284	AG09319	gingival:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:8848676..8851094-chr12:8930285..8932392,2	MCF-7	breast:
2	chr12:8848507..8851298-chr12:9215870..9217959,3	MCF-7	breast:
3	chr12:8828310..8831126-chr12:8850757..8852342,2	MCF-7	breast:
4	chr12:8849223..8851082-chr12:9101432..9104201,2	K562	blood:
5	chr12:8832727..8836231-chr12:8849066..8853020,4	MCF-7	breast:
6	chr12:8849321..8851641-chr12:8972402..8975328,2	K562	blood:
7	chr12:8850179..8851815-chr12:9101960..9104335,2	MCF-7	breast:

No data

Variant related genes	Relation type
RIMKLB	TF binding region
RIMKLB	CpG island
ENSG00000166535	chromatin interactions
ENSG00000166532	chromatin interactions
ENSG00000139187	chromatin interactions
ENSG00000245105	chromatin interactions
ENSG00000003056	chromatin interactions
ENSG00000256904	chromatin interactions
ENSG00000214851	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187548614	chr12:8849746-8849747	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs191757502	chr12:8849750-8849751	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs370480118	chr12:8849792-8849793	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs10842143	chr12:8849804-8849805	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12296587	chr12:8849893-8849894	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538499787	chr12:8849950-8849951	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs556560946	chr12:8849988-8849989	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs367944707	chr12:8850004-8850005	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs12304853	chr12:8850066-8850067	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562811686	chr12:8850076-8850077	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs375959572	chr12:8850083-8850084	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs184345336	chr12:8850172-8850173	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs377079229	chr12:8850266-8850267	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs367751828	chr12:8850332-8850333	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs189381202	chr12:8850385-8850386	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs1439872	chr12:8850533-8850534	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs369631612	chr12:8850575-8850576	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs112487733	chr12:8850582-8850583	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs201486989	chr12:8850589-8850590	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs181017454	chr12:8850591-8850592	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs74766418	chr12:8850647-8850648	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs112263725	chr12:8850706-8850707	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	mRNA abundance
23	rs115701524	chr12:8850762-8850763	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs369953246	chr12:8850795-8850796	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs112570458	chr12:8850797-8850798	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs116782838	chr12:8850816-8850817	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs201063396	chr12:8850838-8850839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs373004332	chr12:8850948-8850949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs375772947	chr12:8850982-8850983	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs561766763	chr12:8850984-8850985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs568799910	chr12:8851030-8851031	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs78241246	chr12:8851118-8851119	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs112056543	chr12:8851148-8851149	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs184539932	chr12:8851166-8851167	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs115158006	chr12:8851183-8851184	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs564192177	chr12:8851265-8851266	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs11275581	chr12:8851311-8851312	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs1439871	chr12:8851317-8851318	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76504789	chr12:8851324-8851325	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs78094539	chr12:8851326-8851327	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs190277809	chr12:8851362-8851363	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs77193937	chr12:8851376-8851377	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs549946156	chr12:8851400-8851401	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs1439870	chr12:8851418-8851419	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73053878	chr12:8851452-8851453	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs371199550	chr12:8851491-8851492	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs374823101	chr12:8851517-8851518	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs181892697	chr12:8851538-8851539	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs112143852	chr12:8851549-8851550	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs11046849	chr12:8851557-8851558	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8848800-8849800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr12:8849000-8852200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr12:8849000-8852600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:8849200-8849800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:8849200-8850000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr12:8849200-8850000	Flanking Active TSS	Dnd41	blood
7	chr12:8849200-8851600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:8849200-8851600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:8849200-8851600	Active TSS	HSMM	muscle
10	chr12:8849200-8851800	Active TSS	Fetal Muscle Trunk	muscle
11	chr12:8849200-8852200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:8849200-8852600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr12:8849200-8852600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:8849200-8852800	Active TSS	Aorta	Aorta
15	chr12:8849400-8849800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:8849400-8849800	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr12:8849400-8849800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:8849400-8849800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:8849400-8849800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:8849400-8849800	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr12:8849400-8849800	Enhancers	Small Intestine	intestine
22	chr12:8849400-8849800	Flanking Active TSS	HMEC	breast
23	chr12:8849400-8849800	Flanking Active TSS	NH-A	brain
24	chr12:8849400-8850000	Active TSS	Right Atrium	heart
25	chr12:8849400-8850000	Flanking Active TSS	Osteobl	bone
26	chr12:8849400-8851400	Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:8849400-8851600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:8849400-8851600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:8849400-8851600	Active TSS	Fetal Intestine Large	intestine
30	chr12:8849400-8851600	Active TSS	Fetal Stomach	stomach
31	chr12:8849400-8851800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:8849400-8851800	Active TSS	Right Ventricle	heart
33	chr12:8849400-8852400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:8849400-8852800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr12:8849600-8849800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr12:8849600-8849800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr12:8849600-8849800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:8849600-8849800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:8849600-8849800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr12:8849600-8849800	Active TSS	Fetal Intestine Small	intestine
41	chr12:8849600-8849800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
42	chr12:8849600-8849800	Active TSS	NHEK	skin
43	chr12:8849600-8850000	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr12:8849600-8850000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr12:8849600-8850000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:8849600-8850000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr12:8849600-8850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:8849600-8850000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:8849600-8850000	Active TSS	Fetal Heart	heart
50	chr12:8849600-8850000	Flanking Active TSS	Placenta	Placenta

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