Variant report

Variant	nsv429790
Chromosome Location	chr7:104314049-104488049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:404)
CpG islands
(count:428)
Chromatin interactive
region (count:51)
LncRNA
region (count:51)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

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	chr7:104412806-104413332	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr7:104412705-104413324	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:104448236-104448258	K562	blood:	n/a	n/a
6	BACH1	chr7:104412765-104413374	H1-hESC	embryonic stem cell:	n/a	chr7:104413256-104413270
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	BHLHE40	chr7:104318279-104318280	K562	blood:	n/a	n/a
10	BRCA1	chr7:104360307-104360358	HepG2	liver:	n/a	n/a
11	CBX3	chr7:104389200-104389395	K562	blood:	n/a	n/a
12	CCNT2	chr7:104320564-104320571	K562	blood:	n/a	n/a
13	CEBPB	chr7:104327925-104328193	HepG2	liver:	n/a	chr7:104328102-104328113
14	CEBPB	chr7:104338599-104338729	HepG2	liver:	n/a	chr7:104338634-104338645
15	CEBPB	chr7:104318082-104318537	K562	blood:	n/a	n/a
16	CEBPB	chr7:104376195-104376387	K562	blood:	n/a	n/a
17	CEBPB	chr7:104433532-104433845	IMR90	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
18	CEBPB	chr7:104327979-104328268	A549	lung:	n/a	chr7:104328102-104328113
19	CEBPB	chr7:104433576-104433893	A549	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
20	CEBPB	chr7:104327972-104328222	IMR90	lung:	n/a	chr7:104328102-104328113
21	CEBPB	chr7:104328043-104328144	K562	blood:	n/a	chr7:104328102-104328113
22	CEBPB	chr7:104433473-104433846	MCF-7	breast:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
23	CEBPB	chr7:104433614-104433830	A549	lung:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
24	CEBPB	chr7:104483818-104484022	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr7:104479052-104479240	K562	blood:	n/a	n/a
26	CEBPB	chr7:104483828-104484013	HepG2	liver:	n/a	n/a
27	CEBPB	chr7:104433566-104433846	K562	blood:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
28	CEBPB	chr7:104318048-104318285	K562	blood:	n/a	n/a
29	CEBPB	chr7:104376306-104376401	A549	lung:	n/a	n/a
30	CEBPB	chr7:104433540-104433841	HepG2	liver:	n/a	chr7:104433674-104433687 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685 chr7:104433676-104433685
31	CHD2	chr7:104412777-104413428	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr7:104412793-104413342	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr7:104412648-104413476	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTBP2	chr7:104412772-104413767	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr7:104483759-104483864	ProgFib	skin:	n/a	n/a
36	CTCF	chr7:104329719-104329825	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr7:104408715-104408809	GM12878	blood:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
38	CTCF	chr7:104408680-104408830	SAEC	small airway:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
39	CTCF	chr7:104375340-104375490	HMEC	breast:	n/a	n/a
40	CTCF	chr7:104367651-104367697	LNCaP	prostate:	n/a	n/a
41	CTCF	chr7:104390001-104390229	A549	lung:	n/a	n/a
42	CTCF	chr7:104483700-104483850	HMEC	breast:	n/a	n/a
43	CTCF	chr7:104483800-104483950	NHEK	skin:	n/a	n/a
44	CTCF	chr7:104392169-104392539	K562	blood:	n/a	n/a
45	CTCF	chr7:104408520-104408670	HMEC	breast:	n/a	n/a
46	CTCF	chr7:104408680-104408830	WERI-Rb-1	eye:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
47	CTCF	chr7:104483780-104483930	RPTEC	kidney:	n/a	n/a
48	CTCF	chr7:104408680-104408830	HEK293	kidney:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
49	CTCF	chr7:104408732-104408847	GM19238	blood:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793
50	CTCF	chr7:104408760-104408910	RPTEC	kidney:	n/a	chr7:104408775-104408785 chr7:104408771-104408787 chr7:104408770-104408788 chr7:104408772-104408793

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:104444707-104444757	LNCaP	prostate:	n/a
2	chr7:104444707-104444757	LNCaP	prostate:	n/a
3	chr7:104413036-104413086	SK-N-MC	brain:	n/a
4	chr7:104413036-104413086	NT2-D1	testis:	n/a
5	chr7:104445402-104445452	AG09309	skin:	n/a
6	chr7:104445585-104445635	AG04449	skin:	fetal
7	chr7:104445585-104445635	NT2-D1	testis:	n/a
8	chr7:104445585-104445635	GM12892	blood:	n/a
9	chr7:104413036-104413086	Jurkat	blood:	n/a
10	chr7:104459130-104459180	HIPEpiC	eye:	n/a
11	chr7:104413036-104413086	BJ	skin:	n/a
12	chr7:104444687-104444737	HUVEC	blood vessel:	n/a
13	chr7:104460407-104460457	HEK293	kidney:	embryo
14	chr7:104459130-104459180	GM12892	blood:	n/a
15	chr7:104445585-104445635	SK-N-SH_RA	brain:	n/a
16	chr7:104413036-104413086	HIPEpiC	eye:	n/a
17	chr7:104444687-104444737	ECC-1	luminal epithelium:	n/a
18	chr7:104444707-104444757	BJ	skin:	n/a
19	chr7:104445402-104445452	ECC-1	luminal epithelium:	n/a
20	chr7:104413036-104413086	HMEC	breast:	n/a
21	chr7:104445585-104445635	GM06990	blood:	n/a
22	chr7:104444707-104444757	T-47D	breast:	n/a
23	chr7:104444687-104444737	CMK	blood:	n/a
24	chr7:104413036-104413086	HNPCEpiC	eye:	n/a
25	chr7:104445402-104445452	NB4	blood:	n/a
26	chr7:104445585-104445635	MCF-7	breast:	n/a
27	chr7:104445402-104445452	Hepatocyte	liver:	n/a
28	chr7:104444687-104444737	IMR90	lung:	fetal
29	chr7:104444707-104444757	NT2-D1	testis:	n/a
30	chr7:104444687-104444737	GM12891	blood:	n/a
31	chr7:104460407-104460457	AG09319	gingival:	n/a
32	chr7:104445585-104445635	SAEC	small airway:	n/a
33	chr7:104444707-104444757	AG09319	gingival:	n/a
34	chr7:104460407-104460457	SK-N-SH	brain:	n/a
35	chr7:104445402-104445452	HNPCEpiC	eye:	n/a
36	chr7:104460407-104460457	Jurkat	blood:	n/a
37	chr7:104413036-104413086	NB4	blood:	n/a
38	chr7:104413036-104413086	Hela-S3	cervix:	n/a
39	chr7:104459130-104459180	HRCEpiC	kidney:	n/a
40	chr7:104413036-104413086	ovcar-3	ovarian:	n/a
41	chr7:104459130-104459180	IMR90	lung:	fetal
42	chr7:104459130-104459180	SK-N-SH	brain:	n/a
43	chr7:104445402-104445452	T-47D	breast:	n/a
44	chr7:104444707-104444757	PrEC	prostate:	n/a
45	chr7:104445402-104445452	K562	blood:	n/a
46	chr7:104445402-104445452	BE2_C	brain:	n/a
47	chr7:104445402-104445452	HEEpiC	esophagus:	n/a
48	chr7:104444707-104444757	BE2_C	brain:	n/a
49	chr7:104444707-104444757	Caco-2	colon:	n/a
50	chr7:104445402-104445452	HUVEC	blood vessel:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:
2	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
3	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
4	chr7:104409406..104411368-chr7:104413418..104415967,2	K562	blood:
5	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:
6	chr7:104326460..104328622-chr7:104343318..104345503,2	K562	blood:
7	chr7:104403971..104406654-chr7:104407039..104409693,2	K562	blood:
8	chr7:104306069..104307978-chr7:104312214..104314439,4	K562	blood:
9	chr7:104380911..104383123-chr7:104386338..104387883,2	K562	blood:
10	chr7:104412687..104414288-chr7:104414612..104417316,2	K562	blood:
11	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:
12	chr7:104302642..104305367-chr7:104448713..104450769,2	K562	blood:
13	chr7:104412687..104414288-chr7:104414612..104417316,2	K562	blood:
14	chr7:104414380..104416720-chr7:104418892..104421394,2	K562	blood:
15	chr7:104403971..104406654-chr7:104407039..104409693,2	K562	blood:
16	chr7:104415740..104417803-chr7:104432798..104435671,2	K562	blood:
17	chr7:104432454..104433087-chrX:39058476..39059438,2	MCF-7	breast:
18	chr7:104443017..104446705-chr7:104447012..104450843,4	K562	blood:
19	chr7:104415740..104417803-chr7:104432798..104435671,2	K562	blood:
20	chr7:104438743..104441735-chr7:104443965..104445982,2	K562	blood:
21	chr7:104435065..104437773-chr7:104442766..104444672,2	K562	blood:
22	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
23	chr7:104337930..104340585-chr7:104343114..104344719,2	K562	blood:
24	chr7:104423057..104424601-chr7:104428990..104431789,2	MCF-7	breast:
25	chr7:104415972..104418312-chr7:104418747..104420588,2	K562	blood:
26	chr7:104383779..104385372-chr7:104386035..104388362,2	K562	blood:
27	chr7:104189213..104191693-chr7:104438258..104440897,2	K562	blood:
28	chr7:104458052..104460838-chr7:104463968..104465824,2	K562	blood:
29	chr7:104383779..104385372-chr7:104386035..104388362,2	K562	blood:
30	chr7:103847059..103849462-chr7:104487557..104490090,2	MCF-7	breast:
31	chr7:104423057..104424601-chr7:104428990..104431789,2	MCF-7	breast:
32	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
33	chr7:104419886..104422032-chr7:104422359..104424194,2	K562	blood:
34	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
35	chr7:104427635..104430340-chr7:104433804..104436120,2	K562	blood:
36	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:
37	chr7:104380911..104383123-chr7:104386338..104387883,2	K562	blood:
38	chr7:103848353..103851254-chr7:104459006..104460903,2	K562	blood:
39	chr7:104435065..104439363-chr7:104442614..104444965,4	K562	blood:
40	chr7:103847894..103849910-chr7:104380935..104383843,2	K562	blood:
41	chr7:104345772..104348271-chr7:104471773..104473637,2	MCF-7	breast:
42	chr7:104427635..104430340-chr7:104433804..104436120,2	K562	blood:
43	chr7:104408013..104410317-chr7:104422818..104425471,2	K562	blood:
44	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:
45	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:
46	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
47	chr7:104409406..104411368-chr7:104413418..104415967,2	K562	blood:
48	chr7:104326460..104328622-chr7:104343318..104345503,2	K562	blood:
49	chr7:104408013..104410317-chr7:104422818..104425471,2	K562	blood:
50	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:

(count:51 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122568
2	lnc-SRPK2-4	chr7:104379045-104379402	ENSG00000226869.2
3	lnc-MLL5-8	chr7:104456917-104457497	expReg_chr7_7241_+
4	lnc-SRPK2-14	chr7:104345191-104345663	l_3461_chr7:104345190-104347230_lung
5	lnc-SRPK2-4	chr7:104444403-104444535	ENSG00000226869.2
6	lnc-MLL5-7	chr7:104466783-104467243	NONHSAT122572
7	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122570
8	lnc-SRPK2-4	chr7:104426178-104426232	ENSG00000226869.2
9	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
10	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
11	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
12	lnc-SRPK2-4	chr7:104439840-104440516	ENSG00000226869.2
13	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
14	lnc-SRPK2-4	chr7:104444403-104444533	ENSG00000226869.2
15	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
16	lnc-SRPK2-4	chr7:104438225-104441824	l_3463_NR_024586
17	lnc-SRPK2-4	chr7:104393162-104393250	ENSG00000226869.2
18	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
19	lnc-SRPK2-14	chr7:104347160-104347230	l_3461_chr7:104345190-104347230_lung
20	lnc-MLL5-9	chr7:104443904-104444763	expReg_chr7_7219_+
21	lnc-SRPK2-4	chr7:104436963-104437396	ENSG00000226869.2
22	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
23	lnc-SRPK2-4	chr7:104425659-104425805	ENSG00000226869.2
24	lnc-SRPK2-4	chr7:104444403-104444531	ENSG00000226869.2
25	lnc-SRPK2-4	chr7:104440265-104440516	NONHSAT122568
26	lnc-SRPK2-4	chr7:104426965-104427028	ENSG00000226869.2
27	lnc-SRPK2-4	chr7:104384497-104384627	ENSG00000226869.2
28	lnc-SRPK2-4	chr7:104379044-104379431	ENSG00000226869.2
29	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
30	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2
31	lnc-SRPK2-4	chr7:104393162-104393238	ENSG00000226869.2
32	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
33	lnc-SRPK2-4	chr7:104443899-104443986	ENSG00000226869.2
34	lnc-SRPK2-4	chr7:104398056-104398195	ENSG00000226869.2
35	lnc-SRPK2-4	chr7:104400150-104400269	ENSG00000226869.2
36	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122568
37	lnc-SRPK2-4	chr7:104436953-104437396	ENSG00000226869.2
38	lnc-SRPK2-4	chr7:104436954-104437396	NONHSAT122568
39	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
40	lnc-MLL5-10	chr7:104442608-104443160	expReg_chr7_7212_+
41	lnc-SRPK2-4	chr7:104384497-104384627	ENSG00000226869.2
42	lnc-SRPK2-4	chr7:104439447-104440516	NONHSAT122570
43	lnc-MLL5-11	chr7:104389667-104390015	ucscGeneNc_uc003vci_2
44	lnc-SRPK2-4	chr7:104409116-104409463	ENSG00000226869.2
45	lnc-SRPK2-4	chr7:104409432-104411609	ucscGeneNc_uc003vcj_1
46	lnc-MLL5-11	chr7:104368889-104369428	ucscGeneNc_uc003vci_2
47	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
48	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
49	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
50	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2

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: 4812 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:4812 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529586964	chr7:104319627-104319628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199810283	chr7:104319646-104319647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10233987	chr7:104319738-104319739	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10279337	chr7:104319788-104319789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73181851	chr7:104319791-104319792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10279339	chr7:104319793-104319794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570515502	chr7:104319797-104319798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539191089	chr7:104319840-104319841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187507236	chr7:104319842-104319843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10279375	chr7:104319876-104319877	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs139848229	chr7:104319899-104319900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555251355	chr7:104319918-104319919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142071655	chr7:104319940-104319941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537840416	chr7:104319944-104319945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557900946	chr7:104319956-104319957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578032412	chr7:104319968-104319969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540395300	chr7:104319969-104319970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151130136	chr7:104319992-104319993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529563380	chr7:104320027-104320028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574295219	chr7:104320054-104320055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74993078	chr7:104320086-104320087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191595891	chr7:104320139-104320140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566295981	chr7:104320166-104320167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183881557	chr7:104320240-104320241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189910330	chr7:104320250-104320251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180718537	chr7:104320289-104320290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533016609	chr7:104320298-104320299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6944469	chr7:104320307-104320308	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs375027282	chr7:104320311-104320312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56204520	chr7:104320317-104320318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569399230	chr7:104320482-104320483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139203541	chr7:104320484-104320485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149955011	chr7:104320529-104320530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147627266	chr7:104320562-104320563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142145725	chr7:104320563-104320564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558104670	chr7:104320574-104320575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6945225	chr7:104320579-104320580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184500416	chr7:104320582-104320583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553978881	chr7:104320592-104320593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574230054	chr7:104320624-104320625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543232687	chr7:104320654-104320655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556826662	chr7:104320661-104320662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576784800	chr7:104320707-104320708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545399717	chr7:104320737-104320738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4512324	chr7:104320746-104320747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190383903	chr7:104320751-104320752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540275153	chr7:104320753-104320754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367958364	chr7:104320822-104320823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559806716	chr7:104320823-104320824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182061276	chr7:104320837-104320838	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Gastric cancer	24379144	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
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	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
Cancer	20164919	CNVD
Basal cell lymphoma	17053054	CNVD
Autism	19492091	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104319600-104320800	Enhancers	K562	blood
2	chr7:104320600-104321000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:104332400-104332600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104332400-104332800	Weak transcription	Brain Substantia Nigra	brain
5	chr7:104332400-104333200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:104332800-104333000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104332800-104333400	Active TSS	Brain Substantia Nigra	brain
8	chr7:104333000-104333400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:104333200-104333600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
10	chr7:104333200-104340400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:104334600-104338400	Enhancers	Colon Smooth Muscle	Colon
12	chr7:104335000-104335800	Enhancers	Brain Germinal Matrix	brain
13	chr7:104335200-104335600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:104335200-104335600	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:104338400-104342800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:104340400-104341800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:104341800-104343800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:104342800-104343400	Enhancers	Colon Smooth Muscle	Colon
19	chr7:104343000-104344000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:104343400-104343800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr7:104343600-104344200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr7:104343800-104344200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:104343800-104344600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:104343800-104345400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:104344000-104344400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:104354000-104354200	Enhancers	Adipose Nuclei	Adipose
27	chr7:104354200-104354600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:104362600-104363600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:104362600-104364000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:104362600-104364000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:104364000-104365200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:104364400-104364800	Enhancers	Colon Smooth Muscle	Colon
33	chr7:104365200-104365400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:104376800-104377400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:104377000-104377400	Active TSS	Lung	lung
36	chr7:104377000-104377600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:104377400-104384400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:104377600-104378600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:104378600-104385200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr7:104384400-104385400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:104385200-104385600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:104385400-104386800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:104385600-104388400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:104386800-104388000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:104388000-104388400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:104388400-104390600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr7:104388400-104390800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:104390600-104392200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:104390800-104391000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr7:104391000-104393200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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