Variant report

Variant	nsv590281
Chromosome Location	chr3:52088204-52090396
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:366)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr3:52089565-52090065	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr3:52089325-52089338	GM12878	blood:	n/a	n/a
3	BHLHE40	chr3:52089955-52090163	K562	blood:	n/a	n/a
4	BHLHE40	chr3:52089631-52089671	GM12878	blood:	n/a	n/a
5	BHLHE40	chr3:52090014-52090259	GM12878	blood:	n/a	n/a
6	BRCA1	chr3:52090153-52090187	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr3:52089689-52090249	K562	blood:	n/a	n/a
8	CEBPB	chr3:52090025-52090132	Hela-S3	cervix:	n/a	n/a
9	CHD1	chr3:52089299-52089518	GM12878	blood:	n/a	n/a
10	CHD2	chr3:52089502-52090307	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr3:52088970-52089132	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr3:52090025-52090207	GM12878	blood:	n/a	n/a
13	CREB1	chr3:52089895-52090385	A549	lung:	n/a	n/a
14	CTCF	chr3:52089260-52089410	HepG2	liver:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
15	CTCF	chr3:52090140-52090290	GM12865	blood:	n/a	n/a
16	CTCF	chr3:52089340-52089490	GM12874	blood:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
17	CTCF	chr3:52089460-52089610	HCM	heart:	n/a	n/a
18	CTCF	chr3:52090080-52090230	GM12878	blood:	n/a	n/a
19	CTCF	chr3:52089260-52089410	AoAF	blood vessel:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
20	CTCF	chr3:52089740-52089890	GM12871	blood:	n/a	n/a
21	CTCF	chr3:52090070-52090072	GM12891	blood:	n/a	n/a
22	CTCF	chr3:52089280-52089430	NHLF	lung:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
23	CTCF	chr3:52089220-52089370	A549	lung:	n/a	chr3:52089239-52089249 chr3:52089350-52089368 chr3:52089351-52089367
24	CTCF	chr3:52089280-52089430	AG09309	skin:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
25	CTCF	chr3:52089200-52089350	HCM	heart:	n/a	chr3:52089239-52089249
26	CTCF	chr3:52088452-52088547	GM19239	blood:	n/a	n/a
27	CTCF	chr3:52089620-52089770	HAc	cerebellar:	n/a	n/a
28	CTCF	chr3:52089280-52089430	HAc	cerebellar:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
29	CTCF	chr3:52088640-52088790	GM12872	blood:	n/a	n/a
30	CTCF	chr3:52089326-52089369	GM20000	blood:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
31	CTCF	chr3:52089194-52089540	IMR90	lung:	n/a	chr3:52089239-52089249 chr3:52089350-52089368 chr3:52089351-52089367
32	CTCF	chr3:52089260-52089410	Caco-2	colon:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
33	CTCF	chr3:52090131-52090241	A549	lung:	n/a	n/a
34	CTCF	chr3:52089459-52089463	K562	blood:	n/a	n/a
35	CTCF	chr3:52089819-52089929	GM12891	blood:	n/a	n/a
36	CTCF	chr3:52089305-52089468	NHEK	skin:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
37	CTCF	chr3:52090031-52090312	K562	blood:	n/a	n/a
38	CTCF	chr3:52089260-52089410	GM12875	blood:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
39	CTCF	chr3:52090125-52090265	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr3:52089280-52089430	HCT-116	colon:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
41	CTCF	chr3:52089152-52089584	H1-hESC	embryonic stem cell:	n/a	chr3:52089239-52089249 chr3:52089350-52089368 chr3:52089351-52089367
42	CTCF	chr3:52090060-52090210	GM12864	blood:	n/a	n/a
43	CTCF	chr3:52090116-52090258	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr3:52088700-52088850	AG04449	skin:	n/a	n/a
45	CTCF	chr3:52090060-52090210	HPF	lung:	n/a	n/a
46	CTCF	chr3:52090128-52090260	MCF-7	breast:	n/a	n/a
47	CTCF	chr3:52089260-52089410	BE2_C	brain:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
48	CTCF	chr3:52089340-52089490	HVMF	connective:	n/a	chr3:52089350-52089368 chr3:52089351-52089367
49	CTCF	chr3:52089360-52089510	RPTEC	kidney:	n/a	n/a
50	CTCF	chr3:52090012-52090273	MCF-7	breast:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52090142-52090192	HCM	heart:	n/a
2	chr3:52090142-52090192	GM12878	blood:	n/a
3	chr3:52089313-52089363	K562	blood:	n/a
4	chr3:52089752-52089802	PANC-1	pancreas:	n/a
5	chr3:52090125-52090175	H1-hESC	embryonic stem cell:	embryo
6	chr3:52088726-52088776	MCF-7	breast:	n/a
7	chr3:52090142-52090192	HIPEpiC	eye:	n/a
8	chr3:52089752-52089802	BJ	skin:	n/a
9	chr3:52088726-52088776	GM19239	blood:	n/a
10	chr3:52088726-52088776	AG09319	gingival:	n/a
11	chr3:52088253-52088303	IMR90	lung:	fetal
12	chr3:52089313-52089363	HUVEC	blood vessel:	n/a
13	chr3:52089752-52089802	GM19239	blood:	n/a
14	chr3:52089752-52089802	MCF10A-Er-Src	breast:	n/a
15	chr3:52090125-52090175	AG04450	lung:	fetal
16	chr3:52088726-52088776	H1-hESC	embryonic stem cell:	embryo
17	chr3:52090125-52090175	HMEC	breast:	n/a
18	chr3:52089752-52089802	HEEpiC	esophagus:	n/a
19	chr3:52089752-52089802	AG10803	skin:	n/a
20	chr3:52089752-52089802	NH-A	brain:	n/a
21	chr3:52089313-52089363	CMK	blood:	n/a
22	chr3:52089313-52089363	HCM	heart:	n/a
23	chr3:52088726-52088776	GM06990	blood:	n/a
24	chr3:52090125-52090175	HCPEpiC	choroid plexus:	n/a
25	chr3:52090142-52090192	MCF10A-Er-Src	breast:	n/a
26	chr3:52090142-52090192	GM19239	blood:	n/a
27	chr3:52088726-52088776	AoSMC	blood vessel:	n/a
28	chr3:52088726-52088776	BJ	skin:	n/a
29	chr3:52089752-52089802	CMK	blood:	n/a
30	chr3:52090125-52090175	SK-N-SH_RA	brain:	n/a
31	chr3:52090142-52090192	SKMC	muscle:	n/a
32	chr3:52090142-52090192	Hela-S3	cervix:	n/a
33	chr3:52089752-52089802	SK-N-MC	brain:	n/a
34	chr3:52088253-52088303	HRPEpiC	eye:	n/a
35	chr3:52088253-52088303	BJ	skin:	n/a
36	chr3:52089752-52089802	GM12891	blood:	n/a
37	chr3:52089752-52089802	ovcar-3	ovarian:	n/a
38	chr3:52089752-52089802	Hela-S3	cervix:	n/a
39	chr3:52090125-52090175	HRCEpiC	kidney:	n/a
40	chr3:52089313-52089363	IMR90	lung:	fetal
41	chr3:52089752-52089802	AG04449	skin:	fetal
42	chr3:52088726-52088776	HL-60	blood:	n/a
43	chr3:52089313-52089363	AG04449	skin:	fetal
44	chr3:52088253-52088303	HIPEpiC	eye:	n/a
45	chr3:52090142-52090192	HEK293	kidney:	embryo
46	chr3:52090142-52090192	NH-A	brain:	n/a
47	chr3:52089313-52089363	HRPEpiC	eye:	n/a
48	chr3:52089752-52089802	HRPEpiC	eye:	n/a
49	chr3:52089313-52089363	AG04450	lung:	fetal
50	chr3:52088726-52088776	MCF10A-Er-Src	breast:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149222699..149225112-chr3:52088904..52091700,2	MCF-7	breast:
2	chr3:52028061..52031321-chr3:52088873..52092735,5	MCF-7	breast:
3	chr3:52015921..52019600-chr3:52088214..52092499,4	K562	blood:
4	chr3:51974263..51977386-chr3:52088681..52091436,3	K562	blood:
5	chr3:52089534..52090129-chr5:139554580..139555447,2	Hela-S3	cervix:
6	chr3:52088633..52090447-chr3:52187469..52189147,2	MCF-7	breast:
7	chr3:52016320..52018909-chr3:52089400..52091632,2	MCF-7	breast:
8	chr3:52026823..52031380-chr3:52087204..52091486,4	K562	blood:
9	chr3:52088066..52089919-chr3:52114349..52115931,2	K562	blood:
10	chr3:52087181..52088866-chr3:52188475..52190351,2	K562	blood:
11	chr3:52088485..52093169-chr3:52093699..52100396,11	MCF-7	breast:
12	chr3:52028475..52031255-chr3:52087467..52089239,2	MCF-7	breast:
13	chr3:52087227..52088495-chr3:52178231..52179051,5	MCF-7	breast:
14	chr3:52087390..52089445-chr3:52228138..52231082,2	K562	blood:
15	chr3:52089814..52091351-chr3:52187528..52189873,2	K562	blood:
16	chr3:51974895..51976742-chr3:52087202..52089493,2	K562	blood:
17	chr3:52088419..52090155-chr3:52113932..52115849,2	K562	blood:
18	chr3:52086312..52088245-chr3:52101960..52104094,2	MCF-7	breast:

No data

Variant related genes	Relation type
DUSP7	TF binding region
DUSP7	CpG island
ENSG00000243989	chromatin interactions
ENSG00000114779	chromatin interactions
ENSG00000120306	chromatin interactions
ENSG00000164087	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000256097	chromatin interactions
ENSG00000114767	chromatin interactions
ENSG00000162244	chromatin interactions
ENSG00000041880	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34821455	chr3:52088204-52088205	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370505082	chr3:52088222-52088223	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs201078227	chr3:52088245-52088246	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs202010878	chr3:52088253-52088254	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs372090315	chr3:52088254-52088255	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs375512945	chr3:52088257-52088258	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs139449821	chr3:52088278-52088279	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs557700246	chr3:52088290-52088291	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs368809169	chr3:52088320-52088321	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs140763527	chr3:52088321-52088322	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs371575895	chr3:52088324-52088325	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs149697661	chr3:52088349-52088350	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs573055165	chr3:52088353-52088354	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs182468436	chr3:52088357-52088358	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs376651725	chr3:52088369-52088370	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs141364781	chr3:52088381-52088382	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs555316847	chr3:52088459-52088460	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs573778559	chr3:52088479-52088480	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs544353518	chr3:52088481-52088482	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs72964042	chr3:52088485-52088486	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs561785025	chr3:52088491-52088492	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs545045838	chr3:52088513-52088514	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs371249535	chr3:52088531-52088532	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs370925922	chr3:52088537-52088538	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs141311225	chr3:52088541-52088542	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs528792333	chr3:52088546-52088547	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs540917180	chr3:52088595-52088596	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Active TSS Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs186674219	chr3:52088602-52088603	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs562171669	chr3:52088605-52088606	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs150800928	chr3:52088615-52088616	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs4687607	chr3:52088651-52088652	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547264806	chr3:52088665-52088666	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs533205404	chr3:52088708-52088709	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs367756986	chr3:52088864-52088865	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs116214536	chr3:52088888-52088889	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs115221768	chr3:52088942-52088943	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs533890800	chr3:52088981-52088982	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs555616090	chr3:52089030-52089031	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs567384784	chr3:52089046-52089047	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs551697900	chr3:52089065-52089066	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs191561752	chr3:52089098-52089099	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs556367459	chr3:52089100-52089101	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs371264648	chr3:52089190-52089191	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs577816905	chr3:52089210-52089211	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs565813123	chr3:52089270-52089271	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs139046255	chr3:52089366-52089367	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs553528792	chr3:52089368-52089369	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs183820709	chr3:52089387-52089388	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs540604011	chr3:52089425-52089426	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs111549035	chr3:52089429-52089430	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52081600-52088600	Genic enhancers	Placenta	Placenta
2	chr3:52081600-52088800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:52082600-52088600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:52083200-52088400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:52083200-52088400	Genic enhancers	Gastric	stomach
6	chr3:52083200-52090200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:52084400-52088600	Genic enhancers	Placenta Amnion	Placenta Amnion
8	chr3:52084800-52088800	Transcr. at gene 5' and 3'	NHEK	skin
9	chr3:52084800-52090000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:52085000-52088600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:52085000-52089200	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:52085000-52090200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:52085200-52088600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
14	chr3:52085200-52088800	Weak transcription	Small Intestine	intestine
15	chr3:52085400-52088600	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
16	chr3:52085400-52088600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
17	chr3:52085400-52088800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr3:52085400-52088800	Enhancers	Stomach Mucosa	stomach
19	chr3:52085400-52089000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
20	chr3:52085600-52088400	Genic enhancers	Liver	Liver
21	chr3:52085600-52088800	Genic enhancers	Fetal Intestine Small	intestine
22	chr3:52085600-52088800	Transcr. at gene 5' and 3'	HMEC	breast
23	chr3:52085800-52088400	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
24	chr3:52085800-52088600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
25	chr3:52085800-52088800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
26	chr3:52085800-52088800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:52085800-52088800	Weak transcription	Ovary	ovary
28	chr3:52085800-52089000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr3:52085800-52089000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr3:52085800-52089000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:52086000-52088400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
32	chr3:52086000-52089000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:52086000-52089000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr3:52086000-52089400	Enhancers	Fetal Heart	heart
35	chr3:52086200-52088400	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:52086200-52088400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:52086200-52088400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:52086200-52088400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
39	chr3:52086200-52088600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:52086200-52088600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:52086200-52088600	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:52086200-52088600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
43	chr3:52086200-52089000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr3:52086200-52089000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
45	chr3:52086200-52090000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr3:52086400-52088400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:52086400-52088400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
48	chr3:52086400-52088400	Genic enhancers	Dnd41	blood
49	chr3:52086400-52088600	Enhancers	Psoas Muscle	Psoas
50	chr3:52086400-52088600	Transcr. at gene 5' and 3'	Osteobl	bone

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