Variant report

Variant	nsv1002098
Chromosome Location	chr4:98501337-99086320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2631)
CpG islands
(count:793)
Chromatin interactive
region (count:52)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2631 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:99064134-99064579	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:99071751-99071820	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:99071668-99071877	K562	blood:	n/a	n/a
4	ARID3A	chr4:99014048-99014354	HepG2	liver:	n/a	n/a
5	ATF1	chr4:98607042-98607171	K562	blood:	n/a	n/a
6	ATF2	chr4:99064087-99064946	GM12878	blood:	n/a	n/a
7	BACH1	chr4:98831268-98831463	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:98577260-98577434	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr4:98906959-98907234	GM12878	blood:	n/a	n/a
10	BCL3	chr4:98905816-98906082	GM12878	blood:	n/a	n/a
11	BCL3	chr4:98508998-98509375	GM12878	blood:	n/a	n/a
12	BCLAF1	chr4:99064100-99064744	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:99064170-99064924	GM12878	blood:	n/a	n/a
14	BRCA1	chr4:98908240-98908390	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr4:99064062-99064976	Hela-S3	cervix:	n/a	chr4:99064951-99064958
16	BRCA1	chr4:99064573-99064575	HepG2	liver:	n/a	n/a
17	CBX3	chr4:98618600-98618916	K562	blood:	n/a	n/a
18	CEBPB	chr4:98766860-98767235	H1-hESC	embryonic stem cell:	n/a	chr4:98767092-98767109
19	CEBPB	chr4:98577090-98577696	HCT-116	colon:	n/a	n/a
20	CEBPB	chr4:98577188-98577535	A549	lung:	n/a	n/a
21	CEBPB	chr4:99070174-99070498	Hela-S3	cervix:	n/a	chr4:99070321-99070332
22	CEBPB	chr4:98510925-98511719	MCF-7	breast:	n/a	n/a
23	CEBPB	chr4:99070074-99070490	ECC-1	luminal epithelium:	n/a	chr4:99070321-99070332
24	CEBPB	chr4:99026275-99026452	H1-hESC	embryonic stem cell:	n/a	chr4:99026390-99026401
25	CEBPB	chr4:98577159-98577857	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr4:98586371-98586560	HepG2	liver:	n/a	chr4:98586497-98586508
27	CEBPB	chr4:98664241-98664530	HepG2	liver:	n/a	chr4:98664382-98664393
28	CEBPB	chr4:99074467-99074741	IMR90	lung:	n/a	n/a
29	CEBPB	chr4:99063786-99064795	Hela-S3	cervix:	n/a	chr4:99064502-99064514
30	CEBPB	chr4:99030855-99030922	HepG2	liver:	n/a	n/a
31	CEBPB	chr4:98577212-98577826	IMR90	lung:	n/a	n/a
32	CEBPB	chr4:98967948-98968326	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr4:98748818-98748844	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr4:98684928-98685150	HepG2	liver:	n/a	chr4:98685036-98685049 chr4:98685038-98685049 chr4:98684997-98685010 chr4:98685036-98685047
35	CEBPB	chr4:98577269-98577808	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr4:98511464-98511776	MCF-7	breast:	n/a	n/a
37	CEBPB	chr4:98550602-98550799	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr4:98675730-98675981	HepG2	liver:	n/a	chr4:98675830-98675841
39	CEBPB	chr4:98668425-98668529	A549	lung:	n/a	n/a
40	CEBPB	chr4:98910863-98911031	A549	lung:	n/a	n/a
41	CEBPB	chr4:98577095-98577574	MCF-7	breast:	n/a	n/a
42	CEBPB	chr4:98646521-98646790	HepG2	liver:	n/a	chr4:98646627-98646638
43	CEBPB	chr4:98849976-98850238	IMR90	lung:	n/a	n/a
44	CEBPB	chr4:98650603-98650914	HepG2	liver:	n/a	chr4:98650742-98650753 chr4:98650740-98650751 chr4:98650742-98650751
45	CEBPB	chr4:98510992-98511342	MCF-7	breast:	n/a	n/a
46	CEBPB	chr4:99070270-99070343	K562	blood:	n/a	chr4:99070321-99070332
47	CEBPB	chr4:98586380-98586651	IMR90	lung:	n/a	chr4:98586497-98586508
48	CEBPB	chr4:98503368-98503620	HepG2	liver:	n/a	chr4:98503500-98503511 chr4:98503499-98503512
49	CEBPB	chr4:98832733-98832877	H1-hESC	embryonic stem cell:	n/a	n/a
50	CEBPB	chr4:99026262-99026519	IMR90	lung:	n/a	chr4:99026390-99026401

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:99064573-99064623	HRCEpiC	kidney:	n/a
2	chr4:99031533-99031583	BJ	skin:	n/a
3	chr4:99064831-99064881	IMR90	lung:	fetal
4	chr4:99064603-99064653	Hela-S3	cervix:	n/a
5	chr4:99064459-99064509	HRE	kidney:	n/a
6	chr4:99008595-99008645	NH-A	brain:	n/a
7	chr4:99064322-99064372	GM12891	blood:	n/a
8	chr4:99064102-99064152	ovcar-3	ovarian:	n/a
9	chr4:99064746-99064796	HCF	heart:	n/a
10	chr4:98690072-98690122	GM12892	blood:	n/a
11	chr4:99064746-99064796	HPAEpiC	pulmonary alveolar:	n/a
12	chr4:99064603-99064653	RPTEC	kidney:	n/a
13	chr4:99008595-99008645	AG09309	skin:	n/a
14	chr4:99064573-99064623	MCF-7	breast:	n/a
15	chr4:99064322-99064372	T-47D	breast:	n/a
16	chr4:99064541-99064591	U87	brain:	n/a
17	chr4:99064904-99064954	HCT-116	colon:	n/a
18	chr4:99031533-99031583	Hepatocyte	liver:	n/a
19	chr4:99061101-99061151	HCM	heart:	n/a
20	chr4:99061101-99061151	AG04449	skin:	fetal
21	chr4:99008595-99008645	IMR90	lung:	fetal
22	chr4:99064573-99064623	HCM	heart:	n/a
23	chr4:99064541-99064591	HEEpiC	esophagus:	n/a
24	chr4:99008595-99008645	AG04449	skin:	fetal
25	chr4:99064459-99064509	HepG2	liver:	n/a
26	chr4:98690072-98690122	GM12891	blood:	n/a
27	chr4:98690072-98690122	AoSMC	blood vessel:	n/a
28	chr4:98690072-98690122	GM06990	blood:	n/a
29	chr4:99064459-99064509	HRPEpiC	eye:	n/a
30	chr4:99064573-99064623	SAEC	small airway:	n/a
31	chr4:99064904-99064954	HNPCEpiC	eye:	n/a
32	chr4:98690072-98690122	HRPEpiC	eye:	n/a
33	chr4:99064746-99064796	SKMC	muscle:	n/a
34	chr4:98690072-98690122	LNCaP	prostate:	n/a
35	chr4:99064603-99064653	BJ	skin:	n/a
36	chr4:98690072-98690122	SK-N-SH_RA	brain:	n/a
37	chr4:99064322-99064372	Hepatocyte	liver:	n/a
38	chr4:99061101-99061151	HRCEpiC	kidney:	n/a
39	chr4:99031533-99031583	NT2-D1	testis:	n/a
40	chr4:99064573-99064623	NB4	blood:	n/a
41	chr4:99064322-99064372	NT2-D1	testis:	n/a
42	chr4:99008595-99008645	GM12892	blood:	n/a
43	chr4:99064541-99064591	AoSMC	blood vessel:	n/a
44	chr4:99064603-99064653	Caco-2	colon:	n/a
45	chr4:99031533-99031583	HUVEC	blood vessel:	n/a
46	chr4:99064746-99064796	AoSMC	blood vessel:	n/a
47	chr4:99064831-99064881	HCT-116	colon:	n/a
48	chr4:99064904-99064954	Jurkat	blood:	n/a
49	chr4:98690072-98690122	NHDF-neo	bronchial:	n/a
50	chr4:99064573-99064623	PFSK-1	brain:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:
2	chr4:99069075..99071216-chr4:99181902..99184864,2	MCF-7	breast:
3	chr4:98600978..98604672-chr4:98609268..98612042,3	MCF-7	breast:
4	chr4:98967509..98968412-chr4:99013843..99014513,4	MCF-7	breast:
5	chr4:98547951..98550382-chr4:98550750..98552792,2	MCF-7	breast:
6	chr4:99077205..99079531-chr4:99181198..99183165,2	MCF-7	breast:
7	chr4:99076051..99077551-chr4:99180191..99182364,2	MCF-7	breast:
8	chr4:99002780..99005606-chr4:99010089..99012416,2	MCF-7	breast:
9	chr4:99066128..99069024-chr4:99180594..99183920,3	MCF-7	breast:
10	chr4:99063959..99066263-chr4:99181971..99183968,2	K562	blood:
11	chr4:99002780..99005606-chr4:99010089..99012416,2	MCF-7	breast:
12	chr4:98505232..98506917-chr4:98508304..98511467,3	MCF-7	breast:
13	chr20:56285284..56287699-chr4:99065164..99066706,2	MCF-7	breast:
14	chr4:98995356..98997429-chr4:98998775..99000432,2	MCF-7	breast:
15	chr4:98588787..98591250-chr4:98592135..98594195,2	MCF-7	breast:
16	chr4:99037506..99039090-chr4:99060858..99063344,2	MCF-7	breast:
17	chr4:98576156..98578566-chr4:98579040..98581603,2	MCF-7	breast:
18	chr4:98576156..98578566-chr4:98579040..98581603,2	MCF-7	breast:
19	chr4:99064473..99066402-chr4:99398593..99401325,2	MCF-7	breast:
20	chr4:99062833..99065837-chr4:99072029..99075529,3	K562	blood:
21	chr4:99072160..99072897-chr4:99308436..99309402,2	MCF-7	breast:
22	chr4:99012356..99014792-chr4:99062792..99064417,2	MCF-7	breast:
23	chr4:98641928..98642827-chr4:98905748..98906362,2	MCF-7	breast:
24	chr4:99034025..99034574-chr4:99308766..99309435,2	MCF-7	breast:
25	chr4:99071301..99072792-chr4:99120456..99121365,4	MCF-7	breast:
26	chr4:98896668..98898608-chr4:98901811..98903490,2	K562	blood:
27	chr4:98790810..98793729-chr4:98795373..98798047,2	K562	blood:
28	chr4:99071303..99072113-chr4:99388789..99389313,2	MCF-7	breast:
29	chr4:98641928..98642827-chr4:98905748..98906362,2	MCF-7	breast:
30	chr4:99001766..99003673-chr4:99063340..99066059,2	MCF-7	breast:
31	chr4:98995356..98997429-chr4:98998775..99000432,2	MCF-7	breast:
32	chr4:98588787..98591250-chr4:98592135..98594195,2	MCF-7	breast:
33	chr4:98505232..98506917-chr4:98508304..98511467,3	MCF-7	breast:
34	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
35	chr4:98790810..98793729-chr4:98795373..98798047,2	K562	blood:
36	chr4:97091475..97092009-chr4:98641981..98642501,2	MCF-7	breast:
37	chr4:98562115..98565020-chr4:98567699..98570313,2	MCF-7	breast:
38	chr4:98896668..98898608-chr4:98901811..98903490,2	K562	blood:
39	chr4:99062262..99068404-chr4:99178848..99183768,9	MCF-7	breast:
40	chr4:99059863..99062255-chr4:99062705..99065339,2	MCF-7	breast:
41	chr4:98522959..98525428-chr4:98528956..98531903,2	K562	blood:
42	chr4:98765331..98767165-chr4:99012892..99015543,2	K562	blood:
43	chr4:99037506..99039090-chr4:99060858..99063344,2	MCF-7	breast:
44	chr4:98547951..98550382-chr4:98550750..98552792,2	MCF-7	breast:
45	chr4:98687863..98690416-chr4:98692655..98695152,2	MCF-7	breast:
46	chr4:98967509..98968412-chr4:99013843..99014513,4	MCF-7	breast:
47	chr4:99083174..99085665-chr4:99180019..99182924,2	MCF-7	breast:
48	chr4:98765331..98767165-chr4:99012892..99015543,2	K562	blood:
49	chr4:98522959..98525428-chr4:98528956..98531903,2	K562	blood:
50	chr4:98562115..98565020-chr4:98567699..98570313,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAP1GDS1-2	chr4:99064930-99065281	FPKM1_group_23748_transcript_1
2	lnc-RAP1GDS1-2	chr4:99064931-99065281	XLOC_003613
3	lnc-RAP1GDS1-6	chr4:98969706-98970194	NONHSAT097481
4	lnc-RAP1GDS1-2	chr4:99067481-99067492	FPKM1_group_23748_transcript_1
5	lnc-TSPAN5-3	chr4:98633850-98633965	NONHSAT097477
6	lnc-RAP1GDS1-2	chr4:99064930-99065281	NONHSAT097482
7	lnc-TSPAN5-3	chr4:98814203-98814354	NONHSAT097477

No data

Variant related genes	Relation type
STPG2	TF binding region
RPL5P12	TF binding region
CRYZP2	TF binding region
DUTP8	TF binding region
ENSG00000254044	TF binding region
STPG2	CpG island
RPL5P12	CpG island
CRYZP2	CpG island
DUTP8	CpG island
ENSG00000254044	CpG island
ENSG00000214559	chromatin interactions
ENSG00000124225	chromatin interactions
ENSG00000138698	chromatin interactions
ENSG00000163116	chromatin interactions

Extended variants
information (count: 7496 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:7496 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183954523	chr4:98506405-98506406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369505450	chr4:98506427-98506428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185982846	chr4:98506443-98506444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1911792	chr4:98506463-98506464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199811611	chr4:98506465-98506466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534646344	chr4:98506519-98506520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75987624	chr4:98506535-98506536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552959978	chr4:98506593-98506594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148136879	chr4:98506658-98506659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538409416	chr4:98506666-98506667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79178214	chr4:98506702-98506703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1911793	chr4:98506794-98506795	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536373261	chr4:98506815-98506816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537582208	chr4:98506846-98506847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141026977	chr4:98506885-98506886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150277390	chr4:98506889-98506890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540642121	chr4:98506890-98506891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138920607	chr4:98506908-98506909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565390069	chr4:98506950-98506951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538918469	chr4:98506962-98506963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577472537	chr4:98506969-98506970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55691738	chr4:98506985-98506986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1508458	chr4:98508856-98508857	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs62315852	chr4:98508861-98508862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568762287	chr4:98508865-98508866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185639784	chr4:98508882-98508883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554389612	chr4:98508895-98508896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1508459	chr4:98508980-98508981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546101688	chr4:98508993-98508994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190744837	chr4:98509042-98509043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555167346	chr4:98509043-98509044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576871476	chr4:98509059-98509060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191392877	chr4:98509072-98509073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1567287	chr4:98509130-98509131	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529917874	chr4:98509256-98509257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541758837	chr4:98509277-98509278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139760096	chr4:98509350-98509351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17026828	chr4:98509511-98509512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552089664	chr4:98509573-98509574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570884840	chr4:98509619-98509620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145076741	chr4:98509649-98509650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112188292	chr4:98509653-98509654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568501048	chr4:98509686-98509687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558999439	chr4:98509688-98509689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147556801	chr4:98509699-98509700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55955462	chr4:98509719-98509720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs111931063	chr4:98509729-98509730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77198634	chr4:98509766-98509767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539980571	chr4:98509814-98509815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541392531	chr4:98509846-98509847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	16891809	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:790 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98506400-98507000	Enhancers	Dnd41	blood
2	chr4:98508800-98509000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:98509000-98509400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:98509400-98510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:98510600-98511600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:98510800-98511200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:98510800-98511600	Enhancers	HMEC	breast
8	chr4:98514200-98514800	ZNF genes & repeats	Pancreas	Pancrea
9	chr4:98514400-98515000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:98548600-98549400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:98548800-98549200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:98548800-98549400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:98548800-98549400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:98549200-98549400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr4:98549400-98552800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:98551600-98552800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:98552800-98553000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:98552800-98553000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:98553000-98553800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:98553000-98554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:98553800-98554800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:98553800-98555400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr4:98554000-98554200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr4:98554200-98554800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr4:98554200-98555000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr4:98564000-98564600	Enhancers	NHEK	skin
27	chr4:98564000-98564800	Enhancers	HUVEC	blood vessel
28	chr4:98564000-98565000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:98565600-98565800	Enhancers	Fetal Lung	lung
30	chr4:98565800-98566400	Weak transcription	Fetal Lung	lung
31	chr4:98566000-98567000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:98566000-98567200	Enhancers	Colon Smooth Muscle	Colon
33	chr4:98566400-98567200	Enhancers	Fetal Lung	lung
34	chr4:98566600-98567000	Enhancers	Fetal Heart	heart
35	chr4:98566600-98567200	Enhancers	Fetal Muscle Leg	muscle
36	chr4:98567200-98568200	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:98567200-98568800	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:98568200-98568800	Enhancers	Colon Smooth Muscle	Colon
39	chr4:98568400-98569000	Enhancers	Fetal Brain Female	brain
40	chr4:98568400-98569000	Enhancers	Fetal Stomach	stomach
41	chr4:98568400-98569000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr4:98568600-98569200	Enhancers	Psoas Muscle	Psoas
43	chr4:98568800-98569400	Enhancers	Fetal Muscle Leg	muscle
44	chr4:98572800-98573200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:98573200-98574200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:98574200-98574400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:98574400-98574800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr4:98574800-98575200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:98574800-98575200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr4:98575000-98575200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links