Variant report

Variant	esv3381594
Chromosome Location	chr12:26274535-26276833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:367)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 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	chr12:26275835-26276400	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:26274809-26274989	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr12:26275865-26276455	A549	lung:	n/a	n/a
4	BHLHE40	chr12:26276160-26276375	GM12878	blood:	n/a	n/a
5	CCNT2	chr12:26275071-26275409	K562	blood:	n/a	n/a
6	CEBPB	chr12:26275890-26276428	IMR90	lung:	n/a	n/a
7	CEBPB	chr12:26275779-26276486	A549	lung:	n/a	n/a
8	CHD2	chr12:26276010-26276325	GM12878	blood:	n/a	n/a
9	CREB1	chr12:26275263-26275705	A549	lung:	n/a	n/a
10	CTBP2	chr12:26275008-26276588	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr12:26275760-26275910	HMF	breast:	n/a	n/a
12	CTCF	chr12:26276200-26276350	AG04449	skin:	n/a	n/a
13	CTCF	chr12:26276146-26276436	A549	lung:	n/a	n/a
14	CTCF	chr12:26276187-26276401	Pancreas_OC	pancreas:	n/a	n/a
15	CTCF	chr12:26276160-26276310	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr12:26275800-26275950	GM12867	blood:	n/a	n/a
17	CTCF	chr12:26275572-26276664	A549	lung:	n/a	n/a
18	CTCF	chr12:26276160-26276310	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr12:26276240-26276390	HMF	breast:	n/a	n/a
20	CTCF	chr12:26275137-26275205	MCF-7	breast:	n/a	n/a
21	CTCF	chr12:26276160-26276310	HL-60	blood:	n/a	n/a
22	CTCF	chr12:26276200-26276350	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr12:26275120-26275251	GM10266	blood:	n/a	n/a
24	CTCF	chr12:26275780-26275930	HPF	lung:	n/a	n/a
25	CTCF	chr12:26276144-26276420	Fibrobl	skin:	n/a	n/a
26	CTCF	chr12:26275438-26275451	GM19239	blood:	n/a	n/a
27	CTCF	chr12:26276142-26276422	Gliobla	brain:	n/a	n/a
28	CTCF	chr12:26276060-26276210	HCM	heart:	n/a	n/a
29	CTCF	chr12:26276200-26276350	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr12:26275123-26275204	NHEK	skin:	n/a	n/a
31	CTCF	chr12:26276124-26276425	GM12891	blood:	n/a	n/a
32	CTCF	chr12:26275780-26275930	HCFaa	heart:	n/a	n/a
33	CTCF	chr12:26276160-26276310	BJ	skin:	n/a	n/a
34	CTCF	chr12:26275760-26275910	WI-38	lung:	n/a	n/a
35	CTCF	chr12:26276214-26276432	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr12:26276160-26276310	AG10803	skin:	n/a	n/a
37	CTCF	chr12:26275740-26275890	GM12871	blood:	n/a	n/a
38	CTCF	chr12:26275860-26276010	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr12:26276160-26276310	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr12:26276233-26276363	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:26275780-26275930	GM12864	blood:	n/a	n/a
42	CTCF	chr12:26276197-26276368	K562	blood:	n/a	n/a
43	CTCF	chr12:26276160-26276310	Caco-2	colon:	n/a	n/a
44	CTCF	chr12:26276160-26276310	GM12864	blood:	n/a	n/a
45	CTCF	chr12:26276180-26276330	GM12868	blood:	n/a	n/a
46	CTCF	chr12:26275060-26275210	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:26275727-26275958	ProgFib	skin:	n/a	n/a
48	CTCF	chr12:26276229-26276365	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr12:26275770-26275944	A549	lung:	n/a	n/a
50	CTCF	chr12:26275760-26275910	SAEC	small airway:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26275050-26275100	ProgFib	skin:	n/a
2	chr12:26275050-26275100	ProgFib	skin:	n/a
3	chr12:26275383-26275433	H1-hESC	embryonic stem cell:	embryo
4	chr12:26275383-26275433	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:26275311-26275361	GM19239	blood:	n/a
6	chr12:26275383-26275433	NHDF-neo	bronchial:	n/a
7	chr12:26275050-26275100	Jurkat	blood:	n/a
8	chr12:26274563-26274613	PrEC	prostate:	n/a
9	chr12:26275383-26275433	PANC-1	pancreas:	n/a
10	chr12:26276329-26276379	GM19239	blood:	n/a
11	chr12:26275050-26275100	HepG2	liver:	n/a
12	chr12:26275661-26275711	HMEC	breast:	n/a
13	chr12:26274563-26274613	IMR90	lung:	fetal
14	chr12:26274563-26274613	HNPCEpiC	eye:	n/a
15	chr12:26274563-26274613	SK-N-SH_RA	brain:	n/a
16	chr12:26275311-26275361	HRE	kidney:	n/a
17	chr12:26275383-26275433	SAEC	small airway:	n/a
18	chr12:26275661-26275711	GM12892	blood:	n/a
19	chr12:26275383-26275433	HCM	heart:	n/a
20	chr12:26275050-26275100	HRCEpiC	kidney:	n/a
21	chr12:26276329-26276379	HEEpiC	esophagus:	n/a
22	chr12:26275383-26275433	HRE	kidney:	n/a
23	chr12:26275661-26275711	MCF-7	breast:	n/a
24	chr12:26276329-26276379	AG09309	skin:	n/a
25	chr12:26275311-26275361	PrEC	prostate:	n/a
26	chr12:26276329-26276379	MCF-7	breast:	n/a
27	chr12:26274563-26274613	HRE	kidney:	n/a
28	chr12:26274563-26274613	AG04449	skin:	fetal
29	chr12:26276329-26276379	HL-60	blood:	n/a
30	chr12:26275661-26275711	GM12891	blood:	n/a
31	chr12:26275661-26275711	AG04449	skin:	fetal
32	chr12:26275050-26275100	HL-60	blood:	n/a
33	chr12:26276329-26276379	HNPCEpiC	eye:	n/a
34	chr12:26274563-26274613	GM19239	blood:	n/a
35	chr12:26274563-26274613	NT2-D1	testis:	n/a
36	chr12:26274563-26274613	HCF	heart:	n/a
37	chr12:26275050-26275100	AG09309	skin:	n/a
38	chr12:26275383-26275433	HEEpiC	esophagus:	n/a
39	chr12:26275311-26275361	HIPEpiC	eye:	n/a
40	chr12:26275661-26275711	NHDF-neo	bronchial:	n/a
41	chr12:26274563-26274613	A549	lung:	n/a
42	chr12:26274563-26274613	CMK	blood:	n/a
43	chr12:26275661-26275711	Hepatocyte	liver:	n/a
44	chr12:26275050-26275100	IMR90	lung:	fetal
45	chr12:26275311-26275361	U87	brain:	n/a
46	chr12:26274563-26274613	SK-N-SH	brain:	n/a
47	chr12:26276329-26276379	HIPEpiC	eye:	n/a
48	chr12:26276329-26276379	HCT-116	colon:	n/a
49	chr12:26275383-26275433	SK-N-MC	brain:	n/a
50	chr12:26275661-26275711	HRPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26274883..26277038-chr12:26421953..26424842,3	MCF-7	breast:
2	chr12:26274388..26277209-chr12:26277264..26280315,5	K562	blood:
3	chr12:26275273..26277209-chr12:26278660..26280315,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSPN-3	chr12:26274985-26275085	NONHSAT027390

No data

Variant related genes	Relation type
BHLHE41	TF binding region
SSPN	TF binding region
BHLHE41	CpG island
SSPN	CpG island
ENSG00000256894	chromatin interactions
ENSG00000123095	chromatin interactions
ENSG00000255750	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376369373	chr12:26274559-26274560	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs141237878	chr12:26274627-26274628	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs529786685	chr12:26274642-26274643	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs113618906	chr12:26274656-26274657	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs548235884	chr12:26274663-26274664	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs76060407	chr12:26274728-26274729	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs530872980	chr12:26274730-26274731	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs373307016	chr12:26274749-26274750	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs185707913	chr12:26274759-26274760	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552418910	chr12:26274795-26274796	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs534527463	chr12:26274804-26274805	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs190616733	chr12:26274835-26274836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs568239654	chr12:26274890-26274891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535535071	chr12:26274893-26274894	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs556972521	chr12:26274894-26274895	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376436868	chr12:26274902-26274903	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs368925183	chr12:26274965-26274966	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs568906881	chr12:26275037-26275038	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs539771904	chr12:26275059-26275060	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs558173674	chr12:26275074-26275075	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs573446676	chr12:26275088-26275089	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs562259562	chr12:26275089-26275090	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs113285019	chr12:26275101-26275102	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs563509667	chr12:26275102-26275103	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs540492298	chr12:26275153-26275154	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs569243703	chr12:26275163-26275164	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs76117681	chr12:26275166-26275167	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs574618039	chr12:26275186-26275187	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs121912617	chr12:26275297-26275298	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs563321241	chr12:26275301-26275302	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs1057206	chr12:26275310-26275311	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs140063083	chr12:26275332-26275333	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs545743074	chr12:26275362-26275363	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs564239022	chr12:26275452-26275453	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs528361935	chr12:26275487-26275488	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs546420783	chr12:26275536-26275537	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs11048413	chr12:26275555-26275556	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs12831005	chr12:26275572-26275573	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs529390143	chr12:26275586-26275587	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs550663067	chr12:26275604-26275605	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569292168	chr12:26275623-26275624	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs539462331	chr12:26275647-26275648	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs548419364	chr12:26275669-26275670	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs529642432	chr12:26275698-26275699	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs568450944	chr12:26275706-26275707	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs534255183	chr12:26275716-26275717	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs567079724	chr12:26275740-26275741	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs544974279	chr12:26275752-26275753	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs534490998	chr12:26275797-26275798	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs371836958	chr12:26275809-26275810	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Malignant germ cell tumour	17285132	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
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
Acute lymphoblastic leukemia	21248843	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
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	16397240	CNVD
Neurodevelopmental disorder	22521361	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Lung cancer	21911935	CNVD
Breast cancer	22048815	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Heart disease	21282601	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Gastric cancer	24379144	CNVD
Gastric cancer	19545448	CNVD
Lung cancer	20031968	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung adenocarcinoma	19826477	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19826477	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	17504988	CNVD
Bipolar disorder	19114987	CNVD
Lung cancer	19671679	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26267400-26274800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:26267800-26275000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:26268000-26274600	Weak transcription	Right Ventricle	heart
4	chr12:26268000-26274800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:26268000-26275000	Weak transcription	Hela-S3	cervix
6	chr12:26268200-26274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:26269600-26274800	Weak transcription	Left Ventricle	heart
8	chr12:26269800-26274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:26270400-26274600	Weak transcription	HSMMtube	muscle
10	chr12:26270600-26274600	Weak transcription	Fetal Heart	heart
11	chr12:26270600-26274600	Weak transcription	HSMM	muscle
12	chr12:26271400-26274600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:26272200-26274600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:26272200-26280000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:26272600-26274800	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:26272800-26274600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:26272800-26276800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:26273000-26280000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr12:26273400-26274600	Active TSS	Stomach Smooth Muscle	stomach
20	chr12:26273400-26275000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:26273400-26280000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr12:26273400-26280000	Active TSS	Right Atrium	heart
23	chr12:26273600-26274600	Active TSS	Brain Hippocampus Middle	brain
24	chr12:26273600-26275000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:26273600-26275000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr12:26273600-26276000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr12:26273600-26279800	Active TSS	Psoas Muscle	Psoas
28	chr12:26273600-26280000	Active TSS	Brain Substantia Nigra	brain
29	chr12:26273800-26275000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
30	chr12:26273800-26275000	Weak transcription	Esophagus	oesophagus
31	chr12:26273800-26275000	Flanking Active TSS	HMEC	breast
32	chr12:26273800-26275800	Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:26274000-26274600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
34	chr12:26274000-26274600	Active TSS	Brain Cingulate Gyrus	brain
35	chr12:26274000-26280000	Active TSS	Brain Angular Gyrus	brain
36	chr12:26274200-26274600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr12:26274200-26274600	Active TSS	Adipose Nuclei	Adipose
38	chr12:26274200-26274800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:26274200-26275000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr12:26274200-26275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:26274200-26275000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:26274200-26275200	Flanking Active TSS	NH-A	brain
43	chr12:26274200-26279600	Active TSS	Colon Smooth Muscle	Colon
44	chr12:26274400-26274600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
45	chr12:26274400-26274600	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr12:26274400-26274600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr12:26274400-26274600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:26274400-26274600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr12:26274400-26274600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:26274400-26274600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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