Variant report

Variant	esv3427823
Chromosome Location	chr12:32551585-32553583
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	ARID3A	chr12:32552458-32552646	K562	blood:	n/a	n/a
2	ATF2	chr12:32552787-32553894	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:32552294-32553761	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:32552426-32553010	K562	blood:	n/a	chr12:32552448-32552464
5	BHLHE40	chr12:32552607-32552709	GM12878	blood:	n/a	n/a
6	BRCA1	chr12:32552404-32552930	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr12:32552322-32552751	K562	blood:	n/a	n/a
8	CCNT2	chr12:32552175-32552976	K562	blood:	n/a	n/a
9	CEBPB	chr12:32553319-32553779	H1-hESC	embryonic stem cell:	n/a	chr12:32553629-32553640
10	CEBPB	chr12:32551931-32553167	ECC-1	luminal epithelium:	n/a	chr12:32552412-32552420
11	CEBPB	chr12:32552136-32552847	Hela-S3	cervix:	n/a	chr12:32552412-32552420
12	CHD1	chr12:32552453-32554107	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr12:32552779-32552962	HepG2	liver:	n/a	n/a
14	CHD2	chr12:32552571-32552749	GM12878	blood:	n/a	n/a
15	CHD2	chr12:32551982-32553310	Hela-S3	cervix:	n/a	chr12:32552385-32552395
16	CHD2	chr12:32552448-32553561	H1-hESC	embryonic stem cell:	n/a	n/a
17	CREB1	chr12:32551959-32552863	A549	lung:	n/a	n/a
18	CREB1	chr12:32552177-32552959	K562	blood:	n/a	n/a
19	CREB1	chr12:32552258-32553434	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr12:32551946-32553418	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr12:32552460-32552610	A549	lung:	n/a	n/a
22	CTCF	chr12:32552485-32552735	A549	lung:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
23	CTCF	chr12:32552386-32552858	K562	blood:	n/a	chr12:32552403-32552411 chr12:32552660-32552673 chr12:32552660-32552669
24	CTCF	chr12:32552580-32552730	HCPEpiC	choroid plexus:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
25	CTCF	chr12:32552543-32552720	SK-N-SH_RA	brain:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
26	CTCF	chr12:32552460-32552610	HPF	lung:	n/a	n/a
27	CTCF	chr12:32552660-32552810	WI-38	lung:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
28	CTCF	chr12:32552540-32552690	GM06990	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
29	CTCF	chr12:32552620-32552770	HAc	cerebellar:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
30	CTCF	chr12:32552543-32552737	Lung_OC	lung:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
31	CTCF	chr12:32552410-32552753	Fibrobl	skin:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
32	CTCF	chr12:32552459-32552797	MCF-7	breast:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
33	CTCF	chr12:32552560-32552710	GM12872	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
34	CTCF	chr12:32552580-32552730	GM12875	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
35	CTCF	chr12:32552599-32552681	Kidney_OC	kidney:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
36	CTCF	chr12:32552540-32552690	BJ	skin:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
37	CTCF	chr12:32552540-32552690	GM12878	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
38	CTCF	chr12:32552540-32552690	AG10803	skin:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
39	CTCF	chr12:32552560-32552710	GM12865	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
40	CTCF	chr12:32552500-32552650	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr12:32552453-32552809	MCF-7	breast:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
42	CTCF	chr12:32552540-32552690	AG09319	gingival:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
43	CTCF	chr12:32552495-32552764	MCF-7	breast:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
44	CTCF	chr12:32552580-32552730	WERI-Rb-1	eye:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
45	CTCF	chr12:32552402-32552791	HepG2	liver:	n/a	chr12:32552403-32552411 chr12:32552660-32552673 chr12:32552660-32552669
46	CTCF	chr12:32552560-32552710	WERI-Rb-1	eye:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
47	CTCF	chr12:32552236-32553011	HCT-116	colon:	n/a	chr12:32552403-32552411 chr12:32552660-32552673 chr12:32552660-32552669 chr12:32552964-32552972
48	CTCF	chr12:32552540-32552690	GM12873	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
49	CTCF	chr12:32552540-32552690	GM12875	blood:	n/a	chr12:32552660-32552673 chr12:32552660-32552669
50	CTCF	chr12:32552371-32552417	Kidney_OC	kidney:	n/a	chr12:32552403-32552411

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:32552899-32552949	HIPEpiC	eye:	n/a
2	chr12:32552066-32552116	HMEC	breast:	n/a
3	chr12:32553295-32553345	IMR90	lung:	fetal
4	chr12:32552899-32552949	HIPEpiC	eye:	n/a
5	chr12:32552066-32552116	HMEC	breast:	n/a
6	chr12:32553295-32553345	IMR90	lung:	fetal
7	chr12:32551988-32552038	U87	brain:	n/a
8	chr12:32552526-32552576	AG04450	lung:	fetal
9	chr12:32553273-32553323	HEK293	kidney:	embryo
10	chr12:32552765-32552815	NT2-D1	testis:	n/a
11	chr12:32552526-32552576	AG04449	skin:	fetal
12	chr12:32552526-32552576	PrEC	prostate:	n/a
13	chr12:32552066-32552116	ProgFib	skin:	n/a
14	chr12:32552765-32552815	BE2_C	brain:	n/a
15	chr12:32552765-32552815	Hepatocyte	liver:	n/a
16	chr12:32552765-32552815	RPTEC	kidney:	n/a
17	chr12:32552279-32552329	K562	blood:	n/a
18	chr12:32552899-32552949	IMR90	lung:	fetal
19	chr12:32551988-32552038	NH-A	brain:	n/a
20	chr12:32553033-32553083	AG10803	skin:	n/a
21	chr12:32552526-32552576	LNCaP	prostate:	n/a
22	chr12:32553033-32553083	NB4	blood:	n/a
23	chr12:32553273-32553323	SKMC	muscle:	n/a
24	chr12:32553295-32553345	HEEpiC	esophagus:	n/a
25	chr12:32553273-32553323	GM12892	blood:	n/a
26	chr12:32552765-32552815	SAEC	small airway:	n/a
27	chr12:32552899-32552949	HepG2	liver:	n/a
28	chr12:32552899-32552949	PANC-1	pancreas:	n/a
29	chr12:32552899-32552949	HCM	heart:	n/a
30	chr12:32552899-32552949	GM19239	blood:	n/a
31	chr12:32552066-32552116	NHDF-neo	bronchial:	n/a
32	chr12:32553295-32553345	AG04449	skin:	fetal
33	chr12:32551988-32552038	HepG2	liver:	n/a
34	chr12:32552899-32552949	HAEpiC	amniotic membrane:	n/a
35	chr12:32552526-32552576	AoSMC	blood vessel:	n/a
36	chr12:32552066-32552116	IMR90	lung:	fetal
37	chr12:32552899-32552949	SK-N-SH	brain:	n/a
38	chr12:32553273-32553323	AG04450	lung:	fetal
39	chr12:32553033-32553083	Hepatocyte	liver:	n/a
40	chr12:32552526-32552576	GM12892	blood:	n/a
41	chr12:32552066-32552116	HCM	heart:	n/a
42	chr12:32552279-32552329	HRE	kidney:	n/a
43	chr12:32552526-32552576	HRE	kidney:	n/a
44	chr12:32552066-32552116	T-47D	breast:	n/a
45	chr12:32552899-32552949	HEK293	kidney:	embryo
46	chr12:32553295-32553345	HRE	kidney:	n/a
47	chr12:32552066-32552116	GM12891	blood:	n/a
48	chr12:32553295-32553345	HCT-116	colon:	n/a
49	chr12:32553295-32553345	HCPEpiC	choroid plexus:	n/a
50	chr12:32551988-32552038	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32552822..32553411-chr3:169306373..169306873,2	HCT-116	colon:
2	chr12:32551025..32552744-chr12:32831132..32833604,2	K562	blood:
3	chr12:32552199..32553014-chr7:48018664..48019299,2	HCT-116	colon:
4	chr12:32552095..32552992-chr19:18391097..18392504,4	Hela-S3	cervix:
5	chr12:32552355..32553211-chrX:77359577..77360122,2	Hela-S3	cervix:
6	chr12:32550852..32553049-chr12:32831118..32832629,2	MCF-7	breast:
7	chr12:32547740..32549812-chr12:32551795..32554175,2	MCF-7	breast:
8	chr12:32552467..32553163-chr2:113403051..113404044,2	Hela-S3	cervix:

Variant related genes	Relation type
FGD4	TF binding region
ENSG00000207176	TF binding region
FGD4	CpG island
ENSG00000207176	CpG island
ENSG00000130522	chromatin interactions
ENSG00000144136	chromatin interactions
ENSG00000207176	chromatin interactions
ENSG00000087470	chromatin interactions
ENSG00000102144	chromatin interactions
ENSG00000136273	chromatin interactions
ENSG00000237753	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561447276	chr12:32551652-32551653	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565862092	chr12:32551656-32551657	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs114885743	chr12:32551657-32551658	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548767360	chr12:32551686-32551687	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs533226787	chr12:32551688-32551689	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs568854877	chr12:32551775-32551776	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs75253278	chr12:32551880-32551881	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs551269050	chr12:32551928-32551929	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs569790194	chr12:32551941-32551942	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs79457788	chr12:32551992-32551993	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs533831025	chr12:32551996-32551997	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs553578993	chr12:32552020-32552021	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs567333411	chr12:32552053-32552054	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs536774662	chr12:32552058-32552059	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150853589	chr12:32552081-32552082	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs570686955	chr12:32552115-32552116	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs113574596	chr12:32552119-32552120	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs552773112	chr12:32552150-32552151	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs545114629	chr12:32552152-32552153	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs116674824	chr12:32552166-32552167	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs548230171	chr12:32552168-32552169	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs34596057	chr12:32552187-32552188	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs541733420	chr12:32552207-32552208	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs561485501	chr12:32552215-32552216	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs530202473	chr12:32552217-32552218	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs139129120	chr12:32552259-32552260	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs12831767	chr12:32552330-32552331	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs75348125	chr12:32552334-32552335	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs397842407	chr12:32552336-32552337	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs61927195	chr12:32552338-32552339	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs138117515	chr12:32552347-32552348	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs34640327	chr12:32552358-32552359	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs12831794	chr12:32552367-32552368	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs201139297	chr12:32552387-32552388	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs369927263	chr12:32552388-32552389	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs531425537	chr12:32552395-32552396	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs535565452	chr12:32552445-32552446	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs566743894	chr12:32552471-32552472	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs374902430	chr12:32552502-32552503	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs2733698	chr12:32552504-32552505	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs527614546	chr12:32552509-32552510	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs547261599	chr12:32552544-32552545	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs117574746	chr12:32552565-32552566	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs11051981	chr12:32552622-32552623	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs556315019	chr12:32552677-32552678	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs570100469	chr12:32552693-32552694	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs545919098	chr12:32552729-32552730	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs183635684	chr12:32552734-32552735	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs559030391	chr12:32552737-32552738	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs2651369	chr12:32552769-32552770	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:59)

Disease	PMID	Source
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32544200-32551600	Weak transcription	Gastric	stomach
2	chr12:32544200-32551800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:32544400-32551800	Weak transcription	Ovary	ovary
4	chr12:32544400-32551800	Weak transcription	HUVEC	blood vessel
5	chr12:32544600-32551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:32548400-32551600	Weak transcription	A549	lung
7	chr12:32550200-32551600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:32550600-32551600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:32550600-32551600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:32550600-32551600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:32550600-32551800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr12:32550600-32551800	Enhancers	Brain Cingulate Gyrus	brain
13	chr12:32550800-32551800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:32550800-32551800	Enhancers	Pancreas	Pancrea
15	chr12:32550800-32552200	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:32551000-32551600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:32551000-32551600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:32551200-32551600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:32551200-32551600	Enhancers	Fetal Intestine Large	intestine
20	chr12:32551200-32551600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr12:32551200-32551600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:32551200-32551800	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:32551200-32551800	Enhancers	Fetal Intestine Small	intestine
24	chr12:32551200-32551800	Enhancers	Stomach Mucosa	stomach
25	chr12:32551200-32552000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr12:32551200-32552000	Enhancers	Esophagus	oesophagus
27	chr12:32551200-32554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:32551400-32551600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr12:32551400-32551600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr12:32551400-32551600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:32551400-32551600	Enhancers	Colonic Mucosa	Colon
32	chr12:32551400-32551600	Enhancers	Hela-S3	cervix
33	chr12:32551400-32551800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
34	chr12:32551400-32551800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr12:32551400-32551800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr12:32551400-32551800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:32551400-32551800	Enhancers	Brain Anterior Caudate	brain
38	chr12:32551400-32552000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:32551400-32552000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:32551600-32551800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:32551600-32551800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:32551600-32551800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:32551600-32551800	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr12:32551600-32551800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr12:32551600-32551800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:32551600-32551800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32551600-32551800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr12:32551600-32551800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr12:32551600-32551800	Active TSS	Primary hematopoietic stem cells	blood
50	chr12:32551600-32551800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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