Variant report

Variant	nsv981514
Chromosome Location	chr7:66310139-66366240
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1131)
CpG islands
(count:427)
Chromatin interactive
region (count:36)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:66309724-66310243	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:66334576-66335072	K562	blood:	n/a	n/a
3	ATF1	chr7:66313401-66313659	K562	blood:	n/a	n/a
4	ATF1	chr7:66309595-66310629	K562	blood:	n/a	n/a
5	ATF1	chr7:66334628-66335060	K562	blood:	n/a	n/a
6	ATF2	chr7:66309674-66310215	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr7:66351121-66351525	GM12878	blood:	n/a	n/a
8	ATF2	chr7:66342441-66342923	GM12878	blood:	n/a	n/a
9	ATF2	chr7:66309582-66310323	GM12878	blood:	n/a	n/a
10	ATF2	chr7:66309627-66310385	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr7:66309729-66310197	GM12878	blood:	n/a	n/a
12	ATF2	chr7:66351069-66351546	GM12878	blood:	n/a	n/a
13	ATF3	chr7:66309548-66310198	GM12878	blood:	n/a	n/a
14	ATF3	chr7:66309657-66310214	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF3	chr7:66309678-66310155	K562	blood:	n/a	n/a
16	ATF3	chr7:66313556-66313742	K562	blood:	n/a	n/a
17	ATF3	chr7:66309690-66310169	HepG2	liver:	n/a	n/a
18	ATF3	chr7:66309852-66310172	K562	blood:	n/a	n/a
19	ATF3	chr7:66309655-66310186	A549	lung:	n/a	n/a
20	ATF3	chr7:66309696-66310174	K562	blood:	n/a	n/a
21	BACH1	chr7:66313062-66313066	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr7:66351116-66351555	GM12878	blood:	n/a	chr7:66351324-66351335
23	BATF	chr7:66351992-66352227	GM12878	blood:	n/a	n/a
24	BATF	chr7:66309897-66310200	GM12878	blood:	n/a	n/a
25	BATF	chr7:66351077-66351504	GM12878	blood:	n/a	chr7:66351324-66351335
26	BATF	chr7:66352278-66352493	GM12878	blood:	n/a	n/a
27	BATF	chr7:66342480-66342972	GM12878	blood:	n/a	n/a
28	BATF	chr7:66342506-66342899	GM12878	blood:	n/a	n/a
29	BATF	chr7:66351904-66352578	GM12878	blood:	n/a	n/a
30	BATF	chr7:66359753-66360043	GM12878	blood:	n/a	n/a
31	BCL11A	chr7:66342553-66342856	GM12878	blood:	n/a	n/a
32	BCL11A	chr7:66351991-66352188	GM12878	blood:	n/a	n/a
33	BCL11A	chr7:66351102-66351563	GM12878	blood:	n/a	n/a
34	BCL11A	chr7:66342561-66342855	GM12878	blood:	n/a	n/a
35	BCL11A	chr7:66351218-66351454	GM12878	blood:	n/a	n/a
36	BCL3	chr7:66351124-66351506	GM12878	blood:	n/a	n/a
37	BCL3	chr7:66309503-66310296	A549	lung:	n/a	chr7:66309520-66309533 chr7:66309513-66309522 chr7:66309508-66309521
38	BCL3	chr7:66335165-66335553	GM12878	blood:	n/a	n/a
39	BCLAF1	chr7:66351004-66351458	GM12878	blood:	n/a	n/a
40	BCLAF1	chr7:66342501-66342959	GM12878	blood:	n/a	n/a
41	BCLAF1	chr7:66309795-66310189	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:66309556-66310208	HepG2	liver:	n/a	n/a
43	BHLHE40	chr7:66359932-66360126	K562	blood:	n/a	n/a
44	BHLHE40	chr7:66342501-66342843	GM12878	blood:	n/a	n/a
45	BHLHE40	chr7:66351836-66352397	GM12878	blood:	n/a	n/a
46	BHLHE40	chr7:66309647-66310188	GM12878	blood:	n/a	n/a
47	BHLHE40	chr7:66351206-66351582	GM12878	blood:	n/a	n/a
48	BHLHE40	chr7:66309462-66310213	K562	blood:	n/a	chr7:66309504-66309520
49	BHLHE40	chr7:66334671-66334968	K562	blood:	n/a	n/a
50	BRCA1	chr7:66309453-66310248	Hela-S3	cervix:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:66310092-66310142	GM12892	blood:	n/a
2	chr7:66310092-66310142	SKMC	muscle:	n/a
3	chr7:66364844-66364894	HCT-116	colon:	n/a
4	chr7:66313497-66313547	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:66325901-66325951	NHBE	bronchial:	n/a
6	chr7:66310092-66310142	H1-hESC	embryonic stem cell:	embryo
7	chr7:66332120-66332170	T-47D	breast:	n/a
8	chr7:66332120-66332170	HCF	heart:	n/a
9	chr7:66364844-66364894	GM12892	blood:	n/a
10	chr7:66310092-66310142	HRPEpiC	eye:	n/a
11	chr7:66310092-66310142	HepG2	liver:	n/a
12	chr7:66332120-66332170	MCF10A-Er-Src	breast:	n/a
13	chr7:66310092-66310142	HRE	kidney:	n/a
14	chr7:66364844-66364894	NHBE	bronchial:	n/a
15	chr7:66364844-66364894	MCF-7	breast:	n/a
16	chr7:66313497-66313547	K562	blood:	n/a
17	chr7:66365385-66365435	GM12891	blood:	n/a
18	chr7:66365385-66365435	ECC-1	luminal epithelium:	n/a
19	chr7:66313497-66313547	SAEC	small airway:	n/a
20	chr7:66364844-66364894	HEEpiC	esophagus:	n/a
21	chr7:66325901-66325951	U87	brain:	n/a
22	chr7:66310685-66310735	SK-N-SH	brain:	n/a
23	chr7:66313497-66313547	NHDF-neo	bronchial:	n/a
24	chr7:66310685-66310735	HRE	kidney:	n/a
25	chr7:66325901-66325951	HRPEpiC	eye:	n/a
26	chr7:66332120-66332170	AG04449	skin:	fetal
27	chr7:66310685-66310735	MCF10A-Er-Src	breast:	n/a
28	chr7:66310685-66310735	PFSK-1	brain:	n/a
29	chr7:66364844-66364894	GM19239	blood:	n/a
30	chr7:66310685-66310735	HRPEpiC	eye:	n/a
31	chr7:66325901-66325951	H1-hESC	embryonic stem cell:	embryo
32	chr7:66332120-66332170	NT2-D1	testis:	n/a
33	chr7:66310092-66310142	NT2-D1	testis:	n/a
34	chr7:66365385-66365435	AG09309	skin:	n/a
35	chr7:66310092-66310142	NB4	blood:	n/a
36	chr7:66365385-66365435	LNCaP	prostate:	n/a
37	chr7:66310092-66310142	K562	blood:	n/a
38	chr7:66325901-66325951	HepG2	liver:	n/a
39	chr7:66310685-66310735	SK-N-MC	brain:	n/a
40	chr7:66310685-66310735	HCPEpiC	choroid plexus:	n/a
41	chr7:66364844-66364894	Caco-2	colon:	n/a
42	chr7:66364844-66364894	PANC-1	pancreas:	n/a
43	chr7:66364844-66364894	A549	lung:	n/a
44	chr7:66313497-66313547	HCPEpiC	choroid plexus:	n/a
45	chr7:66365385-66365435	SKMC	muscle:	n/a
46	chr7:66332120-66332170	PFSK-1	brain:	n/a
47	chr7:66325901-66325951	MCF10A-Er-Src	breast:	n/a
48	chr7:66310092-66310142	GM19239	blood:	n/a
49	chr7:66313497-66313547	AG04449	skin:	fetal
50	chr7:66365385-66365435	HCPEpiC	choroid plexus:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
2	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
3	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:
4	chr7:66309510..66310213-chr7:66385838..66386579,2	MCF-7	breast:
5	chr7:66318937..66321564-chr7:66322590..66324389,2	K562	blood:
6	chr7:66324158..66327332-chr7:66327781..66329830,4	K562	blood:
7	chr7:66308146..66309778-chr7:66358279..66360112,2	K562	blood:
8	chr7:66301720..66302584-chr7:66359647..66360430,2	MCF-7	breast:
9	chr7:66333809..66336428-chr7:66342032..66344327,2	K562	blood:
10	chr7:66324158..66327332-chr7:66327781..66329830,4	K562	blood:
11	chr7:66312126..66314998-chr7:66385416..66387725,2	MCF-7	breast:
12	chr7:66308191..66311276-chr7:66384066..66387492,7	MCF-7	breast:
13	chr7:66365153..66367463-chr7:66373065..66375553,2	MCF-7	breast:
14	chr7:66327806..66329949-chr7:66330490..66333330,2	K562	blood:
15	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
16	chr7:66310072..66311941-chr7:66328440..66331303,2	MCF-7	breast:
17	chr7:66333809..66336428-chr7:66342032..66344327,2	K562	blood:
18	chr7:66325849..66328663-chr7:66331139..66332662,2	K562	blood:
19	chr7:66307509..66310194-chr7:66460135..66463061,3	K562	blood:
20	chr7:66327806..66329949-chr7:66330490..66333330,2	K562	blood:
21	chr7:65375912..65377849-chr7:66330673..66332203,2	K562	blood:
22	chr7:65987381..65988204-chr7:66359678..66360259,2	MCF-7	breast:
23	chr7:65986212..65988963-chr7:66358984..66361433,2	K562	blood:
24	chr7:66309154..66310879-chr7:66385975..66387792,2	MCF-7	breast:
25	chr7:66308221..66311838-chr7:66312285..66316374,5	K562	blood:
26	chr7:66305123..66307515-chr7:66310267..66312023,2	K562	blood:
27	chr7:66325849..66328663-chr7:66331139..66332662,2	K562	blood:
28	chr7:65958036..65958685-chr7:66309752..66310594,2	Hela-S3	cervix:
29	chr7:66320671..66322420-chr7:66385861..66387735,2	MCF-7	breast:
30	chr7:66318937..66321564-chr7:66322590..66324389,2	K562	blood:
31	chr7:66145800..66148420-chr7:66309175..66311369,3	MCF-7	breast:
32	chr7:66309053..66311838-chr7:66313170..66315306,3	K562	blood:
33	chr7:66310160..66312004-chr7:66384558..66386513,2	K562	blood:
34	chr7:66309584..66311542-chr7:66458819..66461691,3	K562	blood:
35	chr13:111365549..111366101-chr7:66309637..66310176,2	Hela-S3	cervix:
36	chr7:66361028..66363688-chr7:66387186..66389228,2	K562	blood:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCTD7-2	chr7:66323064-66323122	NONHSAT121237
2	lnc-KCTD7-2	chr7:66349240-66349388	NONHSAT121239
3	lnc-KCTD7-2	chr7:66320659-66320819	NONHSAT121235
4	lnc-KCTD7-2	chr7:66313476-66313653	NONHSAT121233
5	lnc-KCTD7-2	chr7:66312848-66312994	NONHSAT121232
6	lnc-KCTD7-2	chr7:66313483-66313548	NONHSAT121234
7	lnc-KCTD7-2	chr7:66345274-66345367	NONHSAT121237
8	lnc-KCTD7-2	chr7:66350046-66350233	NONHSAT121239
9	lnc-KCTD7-2	chr7:66320659-66320731	NONHSAT121234
10	lnc-KCTD7-2	chr7:66312341-66312549	NONHSAT121232
11	lnc-KCTD7-2	chr7:66321971-66322059	NONHSAT121237
12	lnc-KCTD7-2	chr7:66328593-66328680	NONHSAT121237
13	lnc-KCTD7-2	chr7:66351339-66351468	NONHSAT121239
14	lnc-KCTD7-2	chr7:66310014-66311344	NONHSAT121231
15	lnc-KCTD7-2	chr7:66321686-66321784	NONHSAT121234
16	lnc-KCTD7-2	chr7:66342919-66342975	NONHSAT121237
17	lnc-C7orf42-3	chr7:66361542-66361634	NONHSAT121242
18	lnc-KCTD7-2	chr7:66310051-66310369	NONHSAT121232
19	lnc-KCTD7-2	chr7:66323064-66323123	NONHSAT121234
20	lnc-KCTD7-2	chr7:66316860-66317175	NONHSAT121235
21	lnc-KCTD7-2	chr7:66347465-66347954	NONHSAT121239
22	lnc-C7orf42-3	chr7:66363144-66363279	NONHSAT121242
23	lnc-C7orf42-3	chr7:66358898-66359005	NONHSAT121242
24	lnc-KCTD7-2	chr7:66352258-66355627	NONHSAT121240
25	lnc-KCTD7-2	chr7:66312244-66312549	NONHSAT121233

No data

Variant related genes	Relation type
ENSG00000273142	TF binding region
GTF2IRD1P1	TF binding region
RNU6-1254P	TF binding region
ENSG00000232546	TF binding region
ENSG00000230295	TF binding region
ENSG00000273142	CpG island
GTF2IRD1P1	CpG island
RNU6-1254P	CpG island
ENSG00000232546	CpG island
ENSG00000230295	CpG island
ENSG00000232546	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000230583	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000198874	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000134905	chromatin interactions
ENSG00000106609	chromatin interactions
ENSG00000126524	chromatin interactions

Extended variants
information (count: 2091 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2091 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536013830	chr7:66310148-66310149	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
2	rs574662043	chr7:66310162-66310163	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
3	rs183942472	chr7:66310164-66310165	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs147880299	chr7:66310214-66310215	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs572942770	chr7:66310229-66310230	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs545010836	chr7:66310269-66310270	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
7	rs188842455	chr7:66310291-66310292	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
8	rs113387234	chr7:66310300-66310301	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
9	rs141283011	chr7:66310391-66310392	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
10	rs551118151	chr7:66310420-66310421	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
11	rs13235282	chr7:66310444-66310445	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs199996502	chr7:66310468-66310469	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
13	rs138353105	chr7:66310485-66310486	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
14	rs142831468	chr7:66310499-66310500	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
15	rs192564047	chr7:66310505-66310506	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
16	rs532101812	chr7:66310517-66310518	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
17	rs182594671	chr7:66310534-66310535	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
18	rs62465706	chr7:66310546-66310547	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs141245169	chr7:66310618-66310619	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
20	rs537579339	chr7:66310629-66310630	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
21	rs560610241	chr7:66310669-66310670	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
22	rs546206605	chr7:66310721-66310722	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
23	rs117974770	chr7:66310776-66310777	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
24	rs568213672	chr7:66310783-66310784	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
25	rs534085290	chr7:66310803-66310804	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
26	rs148067994	chr7:66310818-66310819	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
27	rs576730491	chr7:66310841-66310842	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
28	rs113076722	chr7:66310880-66310881	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
29	rs113038151	chr7:66310885-66310886	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
30	rs575676798	chr7:66310891-66310892	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
31	rs544406268	chr7:66310898-66310899	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
32	rs542007437	chr7:66310925-66310926	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
33	rs561529620	chr7:66310954-66310955	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
34	rs117550958	chr7:66310998-66310999	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
35	rs201844234	chr7:66311025-66311026	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
36	rs530825529	chr7:66311071-66311072	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
37	rs184287681	chr7:66311072-66311073	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
38	rs560719143	chr7:66311081-66311082	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
39	rs532876786	chr7:66311106-66311107	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs188978263	chr7:66311133-66311134	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs552188995	chr7:66311143-66311144	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs573856683	chr7:66311144-66311145	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
43	rs545756748	chr7:66311149-66311150	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
44	rs147862206	chr7:66311152-66311153	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
45	rs568901870	chr7:66311154-66311155	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
46	rs55849324	chr7:66311163-66311164	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs548023096	chr7:66311195-66311196	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
48	rs112506108	chr7:66311212-66311213	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
49	rs533703128	chr7:66311307-66311308	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
50	rs553573116	chr7:66311347-66311348	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	21346763	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1180 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66308600-66310600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:66308600-66310800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:66308800-66310200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:66308800-66310200	Active TSS	Muscle Satellite Cultured Cells	--
5	chr7:66308800-66310200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:66308800-66310200	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:66308800-66310200	Active TSS	NH-A	brain
8	chr7:66308800-66310200	Active TSS	Osteobl	bone
9	chr7:66308800-66310400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:66308800-66310400	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:66308800-66310400	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:66308800-66310400	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:66308800-66310400	Active TSS	NHEK	skin
14	chr7:66308800-66310600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:66308800-66310600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:66308800-66310600	Active TSS	Primary T cells from cord blood	blood
17	chr7:66308800-66310600	Active TSS	Colonic Mucosa	Colon
18	chr7:66308800-66310600	Active TSS	Fetal Heart	heart
19	chr7:66308800-66310600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr7:66308800-66310600	Active TSS	GM12878-XiMat	blood
21	chr7:66308800-66310600	Active TSS	NHDF-Ad	bronchial
22	chr7:66308800-66310800	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:66308800-66310800	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr7:66308800-66310800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:66308800-66311000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr7:66308800-66311000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:66309000-66310200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:66309000-66310200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:66309000-66310200	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:66309000-66310200	Active TSS	Hela-S3	cervix
31	chr7:66309000-66310400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:66309000-66310400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:66309000-66310400	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:66309000-66310400	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr7:66309000-66310400	Active TSS	Brain Angular Gyrus	brain
36	chr7:66309000-66310400	Active TSS	Brain Anterior Caudate	brain
37	chr7:66309000-66310400	Active TSS	Right Ventricle	heart
38	chr7:66309000-66310400	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr7:66309000-66310400	Active TSS	Stomach Smooth Muscle	stomach
40	chr7:66309000-66310400	Active TSS	Thymus	Thymus
41	chr7:66309000-66310400	Active TSS	HMEC	breast
42	chr7:66309000-66310600	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:66309000-66310600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:66309000-66310600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr7:66309000-66310600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:66309000-66310600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:66309000-66310600	Active TSS	Fetal Intestine Large	intestine
48	chr7:66309000-66310600	Active TSS	Psoas Muscle	Psoas
49	chr7:66309000-66310800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:66309000-66310800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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