Variant report

Variant	nsv429792
Chromosome Location	chr7:104400049-104488049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:287)
CpG islands
(count:427)
Chromatin interactive
region (count:40)
LncRNA
region (count:40)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:287 , 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	chr7:104482307-104482460	K562	blood:	n/a	n/a
2	ATF1	chr7:104482256-104482566	K562	blood:	n/a	n/a
3	ATF2	chr7:104412705-104413324	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr7:104412806-104413332	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:104412765-104413374	H1-hESC	embryonic stem cell:	n/a	chr7:104413256-104413270
6	BACH1	chr7:104448236-104448258	K562	blood:	n/a	n/a
7	BCL11A	chr7:104412839-104413127	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL11A	chr7:104412851-104413116	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr7:104483828-104484013	HepG2	liver:	n/a	n/a
10	CEBPB	chr7:104433614-104433830	A549	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
11	CEBPB	chr7:104483818-104484022	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr7:104479052-104479240	K562	blood:	n/a	n/a
13	CEBPB	chr7:104433473-104433846	MCF-7	breast:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
14	CEBPB	chr7:104433566-104433846	K562	blood:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
15	CEBPB	chr7:104433540-104433841	HepG2	liver:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
16	CEBPB	chr7:104433532-104433845	IMR90	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
17	CEBPB	chr7:104433576-104433893	A549	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
18	CHD2	chr7:104412777-104413428	H1-hESC	embryonic stem cell:	n/a	n/a
19	CREB1	chr7:104412793-104413342	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr7:104412648-104413476	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTBP2	chr7:104412772-104413767	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr7:104408705-104408905	GM12878	blood:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
23	CTCF	chr7:104483745-104483896	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:104408571-104408989	H1-hESC	embryonic stem cell:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
25	CTCF	chr7:104408680-104408830	HBMEC	blood vessel:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
26	CTCF	chr7:104408760-104408910	RPTEC	kidney:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
27	CTCF	chr7:104408741-104408802	K562	blood:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
28	CTCF	chr7:104412800-104412950	GM12872	blood:	n/a	n/a
29	CTCF	chr7:104403880-104404030	GM06990	blood:	n/a	n/a
30	CTCF	chr7:104483800-104483950	NHEK	skin:	n/a	n/a
31	CTCF	chr7:104412846-104412909	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr7:104453040-104453190	GM12864	blood:	n/a	n/a
33	CTCF	chr7:104483700-104483850	HMEC	breast:	n/a	n/a
34	CTCF	chr7:104483759-104483864	ProgFib	skin:	n/a	n/a
35	CTCF	chr7:104408702-104408869	HUVEC	blood vessel:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
36	CTCF	chr7:104434868-104434889	Lung_OC	lung:	n/a	n/a
37	CTCF	chr7:104408820-104408970	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr7:104408697-104408826	LNCaP	prostate:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
39	CTCF	chr7:104483780-104483930	HCFaa	heart:	n/a	n/a
40	CTCF	chr7:104408733-104408853	H1-hESC	embryonic stem cell:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
41	CTCF	chr7:104408720-104408870	HUVEC	blood vessel:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
42	CTCF	chr7:104412825-104412978	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr7:104483785-104483871	MCF-7	breast:	n/a	n/a
44	CTCF	chr7:104483720-104483870	NHEK	skin:	n/a	n/a
45	CTCF	chr7:104408642-104408945	H1-hESC	embryonic stem cell:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
46	CTCF	chr7:104483785-104483856	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:104408715-104408809	GM12878	blood:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
48	CTCF	chr7:104483764-104483899	Fibrobl	skin:	n/a	n/a
49	CTCF	chr7:104483740-104483890	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr7:104467627-104467677	Fibrobl	skin:	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	chr7:104459130-104459180	AG09319	gingival:	n/a
2	chr7:104445402-104445452	K562	blood:	n/a
3	chr7:104413036-104413086	HMEC	breast:	n/a
4	chr7:104460407-104460457	HCF	heart:	n/a
5	chr7:104413036-104413086	IMR90	lung:	fetal
6	chr7:104413036-104413086	Hela-S3	cervix:	n/a
7	chr7:104444707-104444757	H1-hESC	embryonic stem cell:	embryo
8	chr7:104445402-104445452	GM06990	blood:	n/a
9	chr7:104445585-104445635	MCF-7	breast:	n/a
10	chr7:104413036-104413086	U87	brain:	n/a
11	chr7:104460407-104460457	U87	brain:	n/a
12	chr7:104460407-104460457	AG04449	skin:	fetal
13	chr7:104445402-104445452	MCF10A-Er-Src	breast:	n/a
14	chr7:104459130-104459180	Caco-2	colon:	n/a
15	chr7:104445585-104445635	A549	lung:	n/a
16	chr7:104445585-104445635	GM12892	blood:	n/a
17	chr7:104444707-104444757	Caco-2	colon:	n/a
18	chr7:104444687-104444737	SKMC	muscle:	n/a
19	chr7:104413036-104413086	Hepatocyte	liver:	n/a
20	chr7:104459130-104459180	T-47D	breast:	n/a
21	chr7:104445585-104445635	AoSMC	blood vessel:	n/a
22	chr7:104444707-104444757	SK-N-SH_RA	brain:	n/a
23	chr7:104460407-104460457	NHBE	bronchial:	n/a
24	chr7:104445585-104445635	GM12891	blood:	n/a
25	chr7:104459130-104459180	AG04450	lung:	fetal
26	chr7:104413036-104413086	NH-A	brain:	n/a
27	chr7:104444707-104444757	HepG2	liver:	n/a
28	chr7:104459130-104459180	AG04449	skin:	fetal
29	chr7:104459130-104459180	Hepatocyte	liver:	n/a
30	chr7:104445402-104445452	AG04449	skin:	fetal
31	chr7:104445585-104445635	NB4	blood:	n/a
32	chr7:104444707-104444757	GM12878	blood:	n/a
33	chr7:104445585-104445635	IMR90	lung:	fetal
34	chr7:104459130-104459180	HCM	heart:	n/a
35	chr7:104445585-104445635	HL-60	blood:	n/a
36	chr7:104413036-104413086	HRCEpiC	kidney:	n/a
37	chr7:104444687-104444737	SAEC	small airway:	n/a
38	chr7:104444687-104444737	HIPEpiC	eye:	n/a
39	chr7:104444687-104444737	SK-N-SH_RA	brain:	n/a
40	chr7:104444707-104444757	GM12891	blood:	n/a
41	chr7:104444687-104444737	PANC-1	pancreas:	n/a
42	chr7:104459130-104459180	SK-N-SH_RA	brain:	n/a
43	chr7:104459130-104459180	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:104445402-104445452	BJ	skin:	n/a
45	chr7:104459130-104459180	HUVEC	blood vessel:	n/a
46	chr7:104444707-104444757	NH-A	brain:	n/a
47	chr7:104459130-104459180	HRPEpiC	eye:	n/a
48	chr7:104413036-104413086	NHDF-neo	bronchial:	n/a
49	chr7:104413036-104413086	GM12891	blood:	n/a
50	chr7:104413036-104413086	HUVEC	blood vessel:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:
2	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:
3	chr7:104427635..104430340-chr7:104433804..104436120,2	K562	blood:
4	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
5	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
6	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
7	chr7:103847059..103849462-chr7:104487557..104490090,2	MCF-7	breast:
8	chr7:104443017..104446705-chr7:104447012..104450843,4	K562	blood:
9	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
10	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
11	chr7:104409406..104411368-chr7:104413418..104415967,2	K562	blood:
12	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
13	chr7:104409406..104411368-chr7:104413418..104415967,2	K562	blood:
14	chr7:104415740..104417803-chr7:104432798..104435671,2	K562	blood:
15	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
16	chr7:104408013..104410317-chr7:104422818..104425471,2	K562	blood:
17	chr7:104403971..104406654-chr7:104407039..104409693,2	K562	blood:
18	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
19	chr7:104415740..104417803-chr7:104432798..104435671,2	K562	blood:
20	chr7:104435065..104437773-chr7:104442766..104444672,2	K562	blood:
21	chr7:104432454..104433087-chrX:39058476..39059438,2	MCF-7	breast:
22	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
23	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:
24	chr7:104435065..104439363-chr7:104442614..104444965,4	K562	blood:
25	chr7:104412687..104414288-chr7:104414612..104417316,2	K562	blood:
26	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:
27	chr7:104189213..104191693-chr7:104438258..104440897,2	K562	blood:
28	chr7:103848353..103851254-chr7:104459006..104460903,2	K562	blood:
29	chr7:104408013..104410317-chr7:104422818..104425471,2	K562	blood:
30	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
31	chr7:104438743..104441735-chr7:104443965..104445982,2	K562	blood:
32	chr7:104403971..104406654-chr7:104407039..104409693,2	K562	blood:
33	chr7:104423057..104424601-chr7:104428990..104431789,2	MCF-7	breast:
34	chr7:104412687..104414288-chr7:104414612..104417316,2	K562	blood:
35	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:
36	chr7:104302642..104305367-chr7:104448713..104450769,2	K562	blood:
37	chr7:104423057..104424601-chr7:104428990..104431789,2	MCF-7	breast:
38	chr7:104427635..104430340-chr7:104433804..104436120,2	K562	blood:
39	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:
40	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:

(count:40 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
2	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
3	lnc-SRPK2-4	chr7:104436953-104437396	ENSG00000226869.2
4	lnc-SRPK2-4	chr7:104444403-104444533	ENSG00000226869.2
5	lnc-SRPK2-4	chr7:104409432-104411609	ucscGeneNc_uc003vcj_1
6	lnc-MLL5-9	chr7:104443904-104444763	expReg_chr7_7219_+
7	lnc-SRPK2-4	chr7:104444403-104444531	ENSG00000226869.2
8	lnc-SRPK2-4	chr7:104438225-104441824	l_3463_NR_024586
9	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
10	lnc-SRPK2-4	chr7:104439840-104440516	ENSG00000226869.2
11	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
12	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
13	lnc-SRPK2-4	chr7:104443899-104443986	ENSG00000226869.2
14	lnc-SRPK2-4	chr7:104426178-104426232	ENSG00000226869.2
15	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122570
16	lnc-SRPK2-4	chr7:104436954-104437396	NONHSAT122568
17	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
18	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
19	lnc-SRPK2-4	chr7:104425659-104425805	ENSG00000226869.2
20	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
21	lnc-SRPK2-4	chr7:104440265-104440516	NONHSAT122568
22	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122570
23	lnc-SRPK2-4	chr7:104436963-104437396	ENSG00000226869.2
24	lnc-SRPK2-4	chr7:104409116-104409463	ENSG00000226869.2
25	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122568
26	lnc-MLL5-10	chr7:104442608-104443160	expReg_chr7_7212_+
27	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
28	lnc-SRPK2-4	chr7:104426965-104427028	ENSG00000226869.2
29	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
30	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
31	lnc-SRPK2-4	chr7:104439447-104440516	NONHSAT122570
32	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2
33	lnc-MLL5-7	chr7:104466783-104467243	NONHSAT122572
34	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
35	lnc-SRPK2-4	chr7:104400150-104400269	ENSG00000226869.2
36	lnc-SRPK2-4	chr7:104444403-104444535	ENSG00000226869.2
37	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122568
38	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2
39	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
40	lnc-MLL5-8	chr7:104456917-104457497	expReg_chr7_7241_+

No data

Variant related genes	Relation type
LHFPL3-AS1	TF binding region
ENSG00000237606	TF binding region
LHFPL3-AS1	CpG island
ENSG00000237606	CpG island
ENSG00000226869	chromatin interactions
ENSG00000164815	chromatin interactions

Extended variants
information (count: 3248 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:3248 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530747046	chr7:104400058-104400059	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568501464	chr7:104400068-104400069	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530995227	chr7:104400076-104400077	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549164560	chr7:104400079-104400080	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112471224	chr7:104400086-104400087	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570911256	chr7:104400100-104400101	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540035923	chr7:104400126-104400127	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17141299	chr7:104400165-104400166	Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566800931	chr7:104400171-104400172	Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs150101110	chr7:104400227-104400228	Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs12669007	chr7:104400251-104400252	Enhancers Genic enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs188827768	chr7:104400259-104400260	Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs536701013	chr7:104400269-104400270	Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114199214	chr7:104400272-104400273	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576904277	chr7:104400282-104400283	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79320985	chr7:104400327-104400328	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559616222	chr7:104400338-104400339	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573159105	chr7:104400339-104400340	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547868089	chr7:104400383-104400384	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542160964	chr7:104400462-104400463	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562037493	chr7:104400500-104400501	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113368715	chr7:104400526-104400527	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550758801	chr7:104400586-104400587	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61685636	chr7:104400616-104400617	Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs142931442	chr7:104400621-104400622	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547154322	chr7:104400632-104400633	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13242803	chr7:104400689-104400690	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13243099	chr7:104400691-104400692	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13242908	chr7:104400698-104400699	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372495318	chr7:104400714-104400715	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566737036	chr7:104400718-104400719	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13230210	chr7:104400743-104400744	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs13243135	chr7:104400769-104400770	Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs57123751	chr7:104400809-104400810	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs13243042	chr7:104400823-104400824	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147435798	chr7:104400847-104400848	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191930805	chr7:104400849-104400850	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139738297	chr7:104400851-104400852	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs60216047	chr7:104400861-104400862	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60768744	chr7:104400862-104400863	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377234197	chr7:104400888-104400889	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs143632722	chr7:104400933-104400934	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs576851840	chr7:104400946-104400947	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs78308074	chr7:104400990-104400991	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs143997196	chr7:104400991-104400992	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370645650	chr7:104401035-104401036	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs573098714	chr7:104401050-104401051	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs112390270	chr7:104401063-104401064	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs11436198	chr7:104401064-104401065	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs397792643	chr7:104401071-104401072	Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104397800-104402000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:104398600-104400800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:104400800-104403400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104402000-104404000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:104403400-104405400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:104404000-104406000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:104405400-104405800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104405800-104408000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104406000-104410400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:104408000-104408600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:104408600-104408800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:104408600-104409400	Enhancers	Brain Angular Gyrus	brain
13	chr7:104408600-104409400	Enhancers	Brain Cingulate Gyrus	brain
14	chr7:104408600-104409600	Enhancers	Brain Anterior Caudate	brain
15	chr7:104408600-104411800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:104408800-104409200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:104408800-104409200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:104408800-104409400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:104408800-104409400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:104408800-104409800	Enhancers	Brain Hippocampus Middle	brain
21	chr7:104409200-104412400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:104409200-104412800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:104409400-104414200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:104409600-104412800	Weak transcription	Brain Anterior Caudate	brain
25	chr7:104409800-104413000	Weak transcription	Brain Hippocampus Middle	brain
26	chr7:104410400-104411800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:104411000-104411200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:104411200-104411400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:104411200-104411400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:104411200-104411400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:104411200-104412800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:104411200-104413000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:104411400-104412600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:104411400-104412800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:104411400-104414400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:104411600-104412800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:104411800-104412800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:104411800-104412800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:104412400-104414000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr7:104412600-104413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:104412600-104413600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr7:104412600-104413800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr7:104412600-104414200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:104412600-104414400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:104412600-104414600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr7:104412800-104413000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr7:104412800-104413000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:104412800-104413000	Active TSS	Brain Anterior Caudate	brain
49	chr7:104412800-104413200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:104412800-104413400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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