Variant report

Variant	esv3409283
Chromosome Location	chr7:150810919-150813867
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:281)
CpG islands
(count:185)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:281 , 50 per page) page: 1 2 3 4 5 6

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	BCL3	chr7:150810274-150811498	A549	lung:	n/a	n/a
5	BHLHE40	chr7:150811120-150811358	K562	blood:	n/a	n/a
6	CBX3	chr7:150810580-150811435	K562	blood:	n/a	n/a
7	CEBPB	chr7:150813259-150813310	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:150812540-150812690	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr7:150811540-150811690	SAEC	small airway:	n/a	n/a
10	CTCF	chr7:150811926-150811999	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:150811921-150811994	Fibrobl	skin:	n/a	n/a
12	CTCF	chr7:150811020-150811170	K562	blood:	n/a	chr7:150811057-150811070
13	CTCF	chr7:150811880-150812030	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr7:150811940-150812090	GM12865	blood:	n/a	n/a
15	CTCF	chr7:150812560-150812710	AG04450	lung:	n/a	n/a
16	CTCF	chr7:150810960-150811110	SK-N-SH_RA	brain:	n/a	chr7:150811057-150811070
17	CTCF	chr7:150810940-150811090	HCPEpiC	choroid plexus:	n/a	chr7:150811057-150811070
18	CTCF	chr7:150810880-150811030	HMEC	breast:	n/a	n/a
19	CTCF	chr7:150812540-150812690	GM12870	blood:	n/a	n/a
20	CTCF	chr7:150811946-150812014	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:150812544-150812761	IMR90	lung:	n/a	n/a
22	CTCF	chr7:150813340-150813490	SAEC	small airway:	n/a	n/a
23	CTCF	chr7:150811911-150812038	IMR90	lung:	n/a	n/a
24	CTCF	chr7:150812840-150812990	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr7:150811360-150811510	HMEC	breast:	n/a	n/a
26	CTCF	chr7:150811320-150811470	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr7:150811964-150812044	GM10248	blood:	n/a	n/a
28	CTCF	chr7:150812596-150812682	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:150812600-150812750	GM12867	blood:	n/a	n/a
30	CTCF	chr7:150812540-150812690	AG04450	lung:	n/a	n/a
31	CTCF	chr7:150811941-150812052	GM13977	blood:	n/a	n/a
32	CTCF	chr7:150811440-150811590	HEEpiC	esophagus:	n/a	n/a
33	CTCF	chr7:150811000-150811150	HEEpiC	esophagus:	n/a	chr7:150811057-150811070
34	CTCF	chr7:150812460-150812610	GM12865	blood:	n/a	n/a
35	CTCF	chr7:150812520-150812670	AG04449	skin:	n/a	n/a
36	CTCF	chr7:150812588-150812675	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr7:150811320-150811470	RPTEC	kidney:	n/a	n/a
38	CTCF	chr7:150811640-150811790	HMEC	breast:	n/a	chr7:150811709-150811727
39	CTCF	chr7:150812760-150812910	SAEC	small airway:	n/a	n/a
40	CTCF	chr7:150812760-150812910	HFF	foreskin:	n/a	n/a
41	CTCF	chr7:150810920-150811070	AG10803	skin:	n/a	chr7:150811057-150811070
42	CTCF	chr7:150811840-150811990	GM12866	blood:	n/a	n/a
43	CTCF	chr7:150812560-150812710	GM12869	blood:	n/a	n/a
44	CTCF	chr7:150812620-150812770	GM12873	blood:	n/a	n/a
45	CTCF	chr7:150812540-150812690	GM12866	blood:	n/a	n/a
46	CTCF	chr7:150812591-150812635	GM13977	blood:	n/a	n/a
47	CTCF	chr7:150811941-150811993	GM19239	blood:	n/a	n/a
48	CTCF	chr7:150811100-150811250	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr7:150811860-150812010	GM12869	blood:	n/a	n/a
50	CTCF	chr7:150812540-150812690	GM12874	blood:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150811775-150811825	MCF-7	breast:	n/a
2	chr7:150811775-150811825	HRPEpiC	eye:	n/a
3	chr7:150811775-150811825	MCF-7	breast:	n/a
4	chr7:150811775-150811825	HRPEpiC	eye:	n/a
5	chr7:150811345-150811395	H1-hESC	embryonic stem cell:	embryo
6	chr7:150811775-150811825	Hepatocyte	liver:	n/a
7	chr7:150812282-150812332	AoSMC	blood vessel:	n/a
8	chr7:150811345-150811395	RPTEC	kidney:	n/a
9	chr7:150811345-150811395	HCPEpiC	choroid plexus:	n/a
10	chr7:150811775-150811825	HL-60	blood:	n/a
11	chr7:150811345-150811395	BE2_C	brain:	n/a
12	chr7:150811775-150811825	HAEpiC	amniotic membrane:	n/a
13	chr7:150811345-150811395	HL-60	blood:	n/a
14	chr7:150811345-150811395	HRCEpiC	kidney:	n/a
15	chr7:150811775-150811825	HUVEC	blood vessel:	n/a
16	chr7:150811775-150811825	Hela-S3	cervix:	n/a
17	chr7:150811775-150811825	PANC-1	pancreas:	n/a
18	chr7:150811775-150811825	BE2_C	brain:	n/a
19	chr7:150811345-150811395	GM19239	blood:	n/a
20	chr7:150812282-150812332	AG04449	skin:	fetal
21	chr7:150811775-150811825	NHDF-neo	bronchial:	n/a
22	chr7:150811775-150811825	LNCaP	prostate:	n/a
23	chr7:150811345-150811395	HEK293	kidney:	embryo
24	chr7:150811775-150811825	GM12878	blood:	n/a
25	chr7:150812282-150812332	ProgFib	skin:	n/a
26	chr7:150811775-150811825	SAEC	small airway:	n/a
27	chr7:150812282-150812332	GM06990	blood:	n/a
28	chr7:150811775-150811825	NB4	blood:	n/a
29	chr7:150812282-150812332	PrEC	prostate:	n/a
30	chr7:150812282-150812332	HAEpiC	amniotic membrane:	n/a
31	chr7:150812282-150812332	PFSK-1	brain:	n/a
32	chr7:150812282-150812332	NT2-D1	testis:	n/a
33	chr7:150811775-150811825	H1-hESC	embryonic stem cell:	embryo
34	chr7:150811775-150811825	AG09319	gingival:	n/a
35	chr7:150811345-150811395	PANC-1	pancreas:	n/a
36	chr7:150811775-150811825	A549	lung:	n/a
37	chr7:150811775-150811825	AG04449	skin:	fetal
38	chr7:150812282-150812332	HCT-116	colon:	n/a
39	chr7:150811345-150811395	IMR90	lung:	fetal
40	chr7:150812282-150812332	HL-60	blood:	n/a
41	chr7:150811775-150811825	ECC-1	luminal epithelium:	n/a
42	chr7:150811345-150811395	GM12891	blood:	n/a
43	chr7:150812282-150812332	AG09319	gingival:	n/a
44	chr7:150811345-150811395	SK-N-SH_RA	brain:	n/a
45	chr7:150812282-150812332	Hepatocyte	liver:	n/a
46	chr7:150811345-150811395	HCT-116	colon:	n/a
47	chr7:150812282-150812332	ECC-1	luminal epithelium:	n/a
48	chr7:150811775-150811825	AoSMC	blood vessel:	n/a
49	chr7:150811345-150811395	PFSK-1	brain:	n/a
50	chr7:150811345-150811395	ECC-1	luminal epithelium:	n/a

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

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

No data

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

Extended variants
information (count: 87 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	rs10242437	chr7:150812787-150812788	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
43	rs558574635	chr7:150812795-150812796	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
44	rs575287583	chr7:150812796-150812797	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
45	rs544309696	chr7:150812799-150812800	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	rs199698187	chr7:150812831-150812832	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs148007067	chr7:150812859-150812860	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs141962119	chr7:150812860-150812861	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs34946440	chr7:150812914-150812915	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs540081582	chr7:150812987-150812988	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	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:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr7:150802600-150821400	Weak transcription	Hela-S3	cervix
5	chr7:150807400-150811000	Enhancers	Pancreas	Pancrea
6	chr7:150808000-150811000	Weak transcription	Colonic Mucosa	Colon
7	chr7:150808000-150811200	Enhancers	Gastric	stomach
8	chr7:150808000-150814600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:150808200-150811000	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:150808200-150811000	Weak transcription	Left Ventricle	heart
11	chr7:150808200-150811600	Weak transcription	Ovary	ovary
12	chr7:150808200-150813600	Weak transcription	Liver	Liver
13	chr7:150808200-150815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:150808400-150811200	Weak transcription	Adipose Nuclei	Adipose
15	chr7:150808400-150812800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:150808600-150811000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:150808600-150811200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:150808600-150811200	Weak transcription	Right Ventricle	heart
19	chr7:150808600-150812800	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:150808600-150813000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr7:150808600-150814000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:150808600-150814800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:150808600-150815000	Weak transcription	Brain Substantia Nigra	brain
24	chr7:150808800-150811000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:150808800-150811000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:150808800-150813000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:150809000-150811800	Genic enhancers	Fetal Muscle Leg	muscle
28	chr7:150809200-150811400	Strong transcription	HepG2	liver
29	chr7:150809400-150812200	Weak transcription	Dnd41	blood
30	chr7:150809800-150811600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:150810000-150811400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:150810000-150811400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:150810000-150811600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:150810000-150811600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr7:150810200-150811000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:150810200-150811000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:150810200-150811000	Enhancers	Fetal Lung	lung
38	chr7:150810200-150811200	Enhancers	H9 Cell Line	embryonic stem cell
39	chr7:150810200-150811400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:150810200-150811400	Enhancers	Brain Angular Gyrus	brain
41	chr7:150810200-150811400	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr7:150810200-150811400	Strong transcription	Spleen	Spleen
43	chr7:150810200-150811600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:150810200-150811600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:150810200-150811600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr7:150810200-150811600	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr7:150810200-150811600	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:150810200-150811600	Flanking Active TSS	A549	lung
49	chr7:150810200-150811600	Flanking Active TSS	HSMM	muscle
50	chr7:150810200-150811600	Flanking Active TSS	NHEK	skin

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