Variant report

Variant	nsv974722
Chromosome Location	chr15:54462427-54478784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:54468684..54471121-chr15:54610190..54612096,2	K562	blood:
2	chr15:54467594..54469950-chr8:103818486..103820863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253669	chromatin interactions

Extended variants
information (count: 98 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564259227	chr15:54467635-54467636	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191868206	chr15:54467639-54467640	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139656968	chr15:54467658-54467659	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560248909	chr15:54467696-54467697	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372159250	chr15:54467706-54467707	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71132786	chr15:54467727-54467728	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547008550	chr15:54467732-54467733	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529355535	chr15:54467749-54467750	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542676431	chr15:54467763-54467764	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562564454	chr15:54467764-54467765	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568758939	chr15:54467770-54467771	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368544060	chr15:54467802-54467803	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531621372	chr15:54467814-54467815	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200304486	chr15:54467834-54467835	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562385729	chr15:54467841-54467842	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183772312	chr15:54467855-54467856	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144339342	chr15:54467858-54467859	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs373655105	chr15:54467866-54467867	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57942378	chr15:54467868-54467869	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567815751	chr15:54467899-54467900	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535568543	chr15:54467906-54467907	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188447137	chr15:54467910-54467911	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7180602	chr15:54467916-54467917	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7181949	chr15:54467956-54467957	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs539591655	chr15:54468008-54468009	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557733388	chr15:54468033-54468034	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140951040	chr15:54468045-54468046	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181949639	chr15:54468107-54468108	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553699406	chr15:54468111-54468112	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573472484	chr15:54468141-54468142	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs28420735	chr15:54468216-54468217	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76869744	chr15:54468349-54468350	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs187408275	chr15:54468372-54468373	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545117073	chr15:54468378-54468379	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35400653	chr15:54468388-54468389	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs3082176	chr15:54468389-54468390	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs398043319	chr15:54468397-54468398	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565234501	chr15:54468442-54468443	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1897051	chr15:54468477-54468478	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548043364	chr15:54468496-54468497	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149767404	chr15:54468546-54468547	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1897050	chr15:54468547-54468548	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145691359	chr15:54468560-54468561	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569020479	chr15:54468579-54468580	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148908505	chr15:54468653-54468654	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1897049	chr15:54468666-54468667	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571187152	chr15:54468761-54468762	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs368669448	chr15:54468813-54468814	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs28542531	chr15:54468835-54468836	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs72748217	chr15:54468879-54468880	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:54467600-54468600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:54468000-54468800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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