Variant report

Variant	esv3330230
Chromosome Location	chr7:150810569-150813867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:326)
CpG islands
(count:183)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:150811028-150811302	K562	blood:	n/a	n/a
2	ATF1	chr7:150810952-150811297	K562	blood:	n/a	n/a
3	ATF3	chr7:150810864-150811326	K562	blood:	n/a	n/a
4	BACH1	chr7:150810342-150810769	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr7:150810274-150811498	A549	lung:	n/a	n/a
6	BCL3	chr7:150810269-150810769	A549	lung:	n/a	n/a
7	BHLHE40	chr7:150811120-150811358	K562	blood:	n/a	n/a
8	CBX3	chr7:150810580-150811435	K562	blood:	n/a	n/a
9	CEBPB	chr7:150813259-150813310	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:150810500-150810650	HCT-116	colon:	n/a	n/a
11	CTCF	chr7:150810720-150810870	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr7:150812540-150812690	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr7:150811320-150811470	RPTEC	kidney:	n/a	n/a
14	CTCF	chr7:150811500-150811589	NHEK	skin:	n/a	n/a
15	CTCF	chr7:150810860-150811010	HAc	cerebellar:	n/a	n/a
16	CTCF	chr7:150812560-150812710	AG04450	lung:	n/a	n/a
17	CTCF	chr7:150810560-150810710	HCM	heart:	n/a	n/a
18	CTCF	chr7:150810460-150810610	BJ	skin:	n/a	n/a
19	CTCF	chr7:150812540-150812690	GM12874	blood:	n/a	n/a
20	CTCF	chr7:150811946-150812014	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:150812609-150812667	GM10248	blood:	n/a	n/a
22	CTCF	chr7:150812565-150812691	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr7:150811921-150811994	Fibrobl	skin:	n/a	n/a
24	CTCF	chr7:150810420-150810570	HVMF	connective:	n/a	chr7:150810447-150810456
25	CTCF	chr7:150812520-150812670	AG04449	skin:	n/a	n/a
26	CTCF	chr7:150812780-150812930	HCM	heart:	n/a	n/a
27	CTCF	chr7:150812460-150812610	GM12872	blood:	n/a	n/a
28	CTCF	chr7:150812560-150812710	GM12869	blood:	n/a	n/a
29	CTCF	chr7:150811691-150811758	H1-hESC	embryonic stem cell:	n/a	chr7:150811709-150811727
30	CTCF	chr7:150810940-150811090	HCPEpiC	choroid plexus:	n/a	chr7:150811057-150811070
31	CTCF	chr7:150810420-150810570	HEEpiC	esophagus:	n/a	chr7:150810447-150810456
32	CTCF	chr7:150811926-150811999	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr7:150813380-150813530	HMEC	breast:	n/a	n/a
34	CTCF	chr7:150811000-150811150	HEEpiC	esophagus:	n/a	chr7:150811057-150811070
35	CTCF	chr7:150812599-150812686	GM19238	blood:	n/a	n/a
36	CTCF	chr7:150811860-150812010	GM12869	blood:	n/a	n/a
37	CTCF	chr7:150812500-150812650	GM12871	blood:	n/a	n/a
38	CTCF	chr7:150810900-150811050	HVMF	connective:	n/a	n/a
39	CTCF	chr7:150810920-150811070	BE2_C	brain:	n/a	chr7:150811057-150811070
40	CTCF	chr7:150811020-150811170	K562	blood:	n/a	chr7:150811057-150811070
41	CTCF	chr7:150810900-150811050	AG09309	skin:	n/a	n/a
42	CTCF	chr7:150811880-150812030	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr7:150812840-150812990	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr7:150810960-150811110	HPF	lung:	n/a	chr7:150811057-150811070
45	CTCF	chr7:150812520-150812670	SAEC	small airway:	n/a	n/a
46	CTCF	chr7:150810364-150810592	IMR90	lung:	n/a	chr7:150810447-150810456
47	CTCF	chr7:150811941-150811993	GM19239	blood:	n/a	n/a
48	CTCF	chr7:150811540-150811690	SAEC	small airway:	n/a	n/a
49	CTCF	chr7:150812588-150812675	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr7:150812760-150812910	HFF	foreskin:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150811775-150811825	Jurkat	blood:	n/a
2	chr7:150811345-150811395	T-47D	breast:	n/a
3	chr7:150811775-150811825	GM19239	blood:	n/a
4	chr7:150811345-150811395	GM12892	blood:	n/a
5	chr7:150812282-150812332	AoSMC	blood vessel:	n/a
6	chr7:150811345-150811395	NH-A	brain:	n/a
7	chr7:150811775-150811825	H1-hESC	embryonic stem cell:	embryo
8	chr7:150811775-150811825	AG09309	skin:	n/a
9	chr7:150811345-150811395	PFSK-1	brain:	n/a
10	chr7:150811345-150811395	GM06990	blood:	n/a
11	chr7:150811775-150811825	GM12878	blood:	n/a
12	chr7:150811775-150811825	HUVEC	blood vessel:	n/a
13	chr7:150811345-150811395	HNPCEpiC	eye:	n/a
14	chr7:150811775-150811825	HAEpiC	amniotic membrane:	n/a
15	chr7:150811345-150811395	HCM	heart:	n/a
16	chr7:150811775-150811825	MCF-7	breast:	n/a
17	chr7:150811775-150811825	HCT-116	colon:	n/a
18	chr7:150811345-150811395	PANC-1	pancreas:	n/a
19	chr7:150812282-150812332	NT2-D1	testis:	n/a
20	chr7:150811775-150811825	HRCEpiC	kidney:	n/a
21	chr7:150812282-150812332	HRCEpiC	kidney:	n/a
22	chr7:150812282-150812332	NHBE	bronchial:	n/a
23	chr7:150811775-150811825	BJ	skin:	n/a
24	chr7:150812282-150812332	PANC-1	pancreas:	n/a
25	chr7:150811345-150811395	HL-60	blood:	n/a
26	chr7:150812282-150812332	Hepatocyte	liver:	n/a
27	chr7:150811345-150811395	AG09319	gingival:	n/a
28	chr7:150811345-150811395	HEEpiC	esophagus:	n/a
29	chr7:150811345-150811395	U87	brain:	n/a
30	chr7:150811775-150811825	RPTEC	kidney:	n/a
31	chr7:150812282-150812332	NB4	blood:	n/a
32	chr7:150811775-150811825	K562	blood:	n/a
33	chr7:150811345-150811395	LNCaP	prostate:	n/a
34	chr7:150812282-150812332	LNCaP	prostate:	n/a
35	chr7:150811775-150811825	SK-N-MC	brain:	n/a
36	chr7:150811345-150811395	SK-N-SH	brain:	n/a
37	chr7:150811775-150811825	IMR90	lung:	fetal
38	chr7:150811345-150811395	GM12891	blood:	n/a
39	chr7:150812282-150812332	AG09319	gingival:	n/a
40	chr7:150811345-150811395	HMEC	breast:	n/a
41	chr7:150811345-150811395	HAEpiC	amniotic membrane:	n/a
42	chr7:150811345-150811395	Jurkat	blood:	n/a
43	chr7:150811345-150811395	HRE	kidney:	n/a
44	chr7:150811775-150811825	AoSMC	blood vessel:	n/a
45	chr7:150811345-150811395	H1-hESC	embryonic stem cell:	embryo
46	chr7:150811345-150811395	HIPEpiC	eye:	n/a
47	chr7:150811775-150811825	NT2-D1	testis:	n/a
48	chr7:150811345-150811395	HPAEpiC	pulmonary alveolar:	n/a
49	chr7:150811345-150811395	RPTEC	kidney:	n/a
50	chr7:150811775-150811825	HEEpiC	esophagus:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150809552..150813512-chr7:150971172..150974114,3	MCF-7	breast:
2	chr7:150805011..150809604-chr7:150809683..150814673,8	K562	blood:
3	chr7:150811393..150813033-chr7:150871276..150873059,2	MCF-7	breast:
4	chr7:150807803..150810009-chr7:150811928..150814974,4	MCF-7	breast:
5	chr7:150811889..150814867-chr7:150929281..150931083,2	MCF-7	breast:
6	chr7:150810394..150811144-chr7:150820727..150821473,2	MCF-7	breast:
7	chr7:150813337..150816221-chr7:150868567..150872033,3	K562	blood:
8	chr7:150065484..150068056-chr7:150811875..150813765,2	MCF-7	breast:
9	chr7:150811813..150813371-chr7:150929013..150931225,2	MCF-7	breast:
10	chr7:150805011..150810412-chr7:150810806..150815520,8	K562	blood:
11	chr7:150811800..150813328-chr7:150923060..150925511,2	MCF-7	breast:
12	chr7:150809563..150811680-chr7:150929692..150931212,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGAP3	TF binding region
AGAP3	CpG island
ENSG00000133612	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000033100	chromatin interactions
ENSG00000082014	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000164900	chromatin interactions
ENSG00000033050	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546571286	chr7:150810588-150810589	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs75210455	chr7:150810661-150810662	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191471883	chr7:150810662-150810663	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs548798499	chr7:150810663-150810664	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12673943	chr7:150810763-150810764	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528012440	chr7:150810772-150810773	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs539815613	chr7:150810774-150810775	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115877221	chr7:150810855-150810856	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs368196211	chr7:150810874-150810875	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs372465853	chr7:150810949-150810950	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs560839491	chr7:150810967-150810968	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs530051121	chr7:150811004-150811005	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs546233700	chr7:150811035-150811036	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs566473201	chr7:150811087-150811088	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs117346467	chr7:150811117-150811118	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs552323339	chr7:150811156-150811157	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs375790173	chr7:150811158-150811159	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs149107111	chr7:150811181-150811182	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs537623165	chr7:150811267-150811268	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs181533252	chr7:150811275-150811276	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs145783834	chr7:150811303-150811304	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536954088	chr7:150811326-150811327	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs550050909	chr7:150811336-150811337	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs573213677	chr7:150811390-150811391	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs567136884	chr7:150811419-150811420	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs571471018	chr7:150811445-150811446	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs76717916	chr7:150811448-150811449	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs138627875	chr7:150811489-150811490	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs575374287	chr7:150811522-150811523	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs544000158	chr7:150811524-150811525	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs560752491	chr7:150811535-150811536	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs529907169	chr7:150811575-150811576	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs540534805	chr7:150811734-150811735	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs13234429	chr7:150811765-150811766	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs559864876	chr7:150811768-150811769	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs532111259	chr7:150811844-150811845	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs186971180	chr7:150811876-150811877	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs13308269	chr7:150812290-150812291	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs13308180	chr7:150812291-150812292	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs13308234	chr7:150812392-150812393	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs568961134	chr7:150812486-150812487	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs6971966	chr7:150812493-150812494	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs183535982	chr7:150812565-150812566	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs113603956	chr7:150812583-150812584	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs186779875	chr7:150812652-150812653	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs13308357	chr7:150812660-150812661	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs13308364	chr7:150812674-150812675	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs17857291	chr7:150812683-150812684	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs553611118	chr7:150812692-150812693	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs10272090	chr7:150812739-150812740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
2	chr7:150789000-150815400	Weak transcription	GM12878-XiMat	blood
3	chr7:150799000-150811200	Weak transcription	Right Atrium	heart
4	chr7:150802200-150810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:150802400-150810600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
7	chr7:150807200-150810600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:150807400-150811000	Enhancers	Pancreas	Pancrea
9	chr7:150808000-150811000	Weak transcription	Colonic Mucosa	Colon
10	chr7:150808000-150811200	Enhancers	Gastric	stomach
11	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:150808200-150810600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:150808200-150810600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:150808200-150810600	Weak transcription	NHDF-Ad	bronchial
15	chr7:150808200-150811000	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:150808200-150811000	Weak transcription	Left Ventricle	heart
17	chr7:150808200-150811600	Weak transcription	Ovary	ovary
18	chr7:150808200-150813600	Weak transcription	Liver	Liver
19	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:150808400-150810600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:150808400-150810600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:150808400-150810800	Genic enhancers	K562	blood
23	chr7:150808400-150811200	Weak transcription	Adipose Nuclei	Adipose
24	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:150808600-150810600	Weak transcription	Brain Anterior Caudate	brain
26	chr7:150808600-150810600	Weak transcription	Lung	lung
27	chr7:150808600-150810800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:150808600-150810800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:150808600-150811000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:150808600-150811200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr7:150808600-150811200	Weak transcription	Right Ventricle	heart
32	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
37	chr7:150808800-150810800	Strong transcription	Fetal Intestine Small	intestine
38	chr7:150808800-150811000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:150808800-150811000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:150809000-150810600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:150809000-150811800	Genic enhancers	Fetal Muscle Leg	muscle
43	chr7:150809200-150811400	Strong transcription	HepG2	liver
44	chr7:150809400-150812200	Weak transcription	Dnd41	blood
45	chr7:150809600-150810600	Weak transcription	Stomach Mucosa	stomach
46	chr7:150809800-150810600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr7:150809800-150810800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr7:150809800-150811600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:150810000-150810600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:150810000-150810600	Enhancers	HMEC	breast

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