Variant report

Variant	nsv947760
Chromosome Location	chr10:20029886-20037262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr10:20031092-20031318	K562	blood:	n/a	n/a
2	BATF	chr10:20035664-20035859	GM12878	blood:	n/a	n/a
3	BATF	chr10:20035644-20035814	GM12878	blood:	n/a	n/a
4	BCL11A	chr10:20035655-20035827	GM12878	blood:	n/a	n/a
5	BCL11A	chr10:20035672-20035886	GM12878	blood:	n/a	n/a
6	BCL11A	chr10:20036910-20037233	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:20035652-20035896	HepG2	liver:	n/a	n/a
8	BHLHE40	chr10:20036959-20037247	HepG2	liver:	n/a	n/a
9	CEBPB	chr10:20031111-20031430	K562	blood:	n/a	n/a
10	CTCF	chr10:20033361-20033403	Pancreas_OC	pancreas:	n/a	n/a
11	EBF1	chr10:20035671-20035811	GM12878	blood:	n/a	n/a
12	EP300	chr10:20031236-20031436	K562	blood:	n/a	n/a
13	EP300	chr10:20035650-20035855	GM12878	blood:	n/a	chr10:20035723-20035732
14	FOSL2	chr10:20035658-20035886	HepG2	liver:	n/a	n/a
15	FOSL2	chr10:20036936-20037251	HepG2	liver:	n/a	n/a
16	FOSL2	chr10:20035628-20035910	HepG2	liver:	n/a	n/a
17	FOXA1	chr10:20035634-20035876	HepG2	liver:	n/a	chr10:20035641-20035653
18	GABPA	chr10:20035662-20035847	Hela-S3	cervix:	n/a	n/a
19	GABPA	chr10:20037015-20037104	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr10:20035675-20035788	Hela-S3	cervix:	n/a	n/a
21	GATA2	chr10:20035654-20035828	K562	blood:	n/a	n/a
22	GATA2	chr10:20031042-20031377	K562	blood:	n/a	n/a
23	HEY1	chr10:20036968-20037210	HepG2	liver:	n/a	n/a
24	HEY1	chr10:20035574-20035963	HepG2	liver:	n/a	n/a
25	HEY1	chr10:20035664-20035793	HepG2	liver:	n/a	n/a
26	JUND	chr10:20035690-20035848	HepG2	liver:	n/a	n/a
27	JUND	chr10:20036992-20037131	HepG2	liver:	n/a	n/a
28	JUND	chr10:20037009-20037106	HepG2	liver:	n/a	n/a
29	JUND	chr10:20035582-20035877	HepG2	liver:	n/a	n/a
30	NR2F2	chr10:20031016-20031576	K562	blood:	n/a	n/a
31	NR2F2	chr10:20031131-20031440	K562	blood:	n/a	n/a
32	PAX5	chr10:20035651-20035836	GM12878	blood:	n/a	n/a
33	PAX5	chr10:20036997-20037118	GM12878	blood:	n/a	n/a
34	PAX5	chr10:20035643-20035826	GM12878	blood:	n/a	n/a
35	PAX5	chr10:20035674-20035807	GM12878	blood:	n/a	n/a
36	PBX3	chr10:20035687-20035835	GM12878	blood:	n/a	n/a
37	PBX3	chr10:20035691-20035814	GM12878	blood:	n/a	n/a
38	POLR2A	chr10:20031236-20031446	K562	blood:	n/a	n/a
39	POU2F2	chr10:20035688-20035792	GM12878	blood:	n/a	n/a
40	RXRA	chr10:20036948-20037166	GM12878	blood:	n/a	n/a
41	RXRA	chr10:20035468-20035851	GM12878	blood:	n/a	n/a
42	RXRA	chr10:20035666-20035832	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr10:20035697-20035784	HepG2	liver:	n/a	n/a
44	SIN3AK20	chr10:20037014-20037100	HepG2	liver:	n/a	n/a
45	SIX5	chr10:20036978-20037136	K562	blood:	n/a	n/a
46	SIX5	chr10:20035584-20035836	GM12878	blood:	n/a	n/a
47	SIX5	chr10:20035660-20035820	K562	blood:	n/a	n/a
48	SIX5	chr10:20036962-20037152	GM12878	blood:	n/a	n/a
49	SIX5	chr10:20035654-20035859	K562	blood:	n/a	n/a
50	SP1	chr10:20035648-20035833	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
MTND2P16	TF binding region

Extended variants
information (count: 296 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187970040	chr10:20029893-20029894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550558337	chr10:20029919-20029920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553534583	chr10:20029930-20029931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557119769	chr10:20029961-20029962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375761861	chr10:20029983-20029984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537245237	chr10:20029994-20029995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575444042	chr10:20030063-20030064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572092303	chr10:20030079-20030080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398012955	chr10:20030085-20030086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535816159	chr10:20030116-20030117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573567300	chr10:20030127-20030128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373630887	chr10:20030149-20030150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551241826	chr10:20030154-20030155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370961524	chr10:20030195-20030196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569304843	chr10:20030218-20030219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56964769	chr10:20030254-20030255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552879783	chr10:20030319-20030320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60461887	chr10:20030325-20030326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544721110	chr10:20030348-20030349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563394549	chr10:20030364-20030365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184035729	chr10:20030392-20030393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11011369	chr10:20030442-20030443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562283721	chr10:20030443-20030444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188771801	chr10:20030450-20030451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548086766	chr10:20030454-20030455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192116440	chr10:20030456-20030457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76419953	chr10:20030473-20030474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551529193	chr10:20030507-20030508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533994616	chr10:20030543-20030544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140468071	chr10:20030551-20030552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555319074	chr10:20030588-20030589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142809785	chr10:20030591-20030592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536162446	chr10:20030617-20030618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548742390	chr10:20030636-20030637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577335465	chr10:20030665-20030666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534543414	chr10:20030720-20030721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59143081	chr10:20030733-20030734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185482207	chr10:20030798-20030799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57696188	chr10:20030815-20030816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386741654	chr10:20030817-20030818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61657628	chr10:20030819-20030820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556692143	chr10:20030951-20030952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575264678	chr10:20031064-20031065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61841486	chr10:20031085-20031086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190359567	chr10:20031098-20031099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560991766	chr10:20031106-20031107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573768352	chr10:20031111-20031112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35559500	chr10:20031122-20031123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139225749	chr10:20031177-20031178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367709734	chr10:20031189-20031190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20003400-20051400	Weak transcription	Fetal Intestine Large	intestine
2	chr10:20031000-20031600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:20031200-20031600	Enhancers	Ovary	ovary
4	chr10:20034400-20035000	Active TSS	HSMMtube	muscle
5	chr10:20035000-20038600	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links