Variant report

Variant	nsv984219
Chromosome Location	chr15:60026752-60043941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:60030501..60031096-chr15:60685261..60685790,2	MCF-7	breast:
2	chr15:59978809..59981782-chr15:60028981..60030620,2	MCF-7	breast:
3	chr15:60043711..60044614-chr15:60618768..60619694,2	MCF-7	breast:
4	chr15:60021559..60023489-chr15:60028804..60031729,2	K562	blood:

Variant related genes	Relation type
ENSG00000259238	chromatin interactions
ENSG00000140299	chromatin interactions

Extended variants
information (count: 326 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577835457	chr15:60029074-60029075	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs376263913	chr15:60029216-60029217	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569855012	chr15:60029219-60029220	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181085959	chr15:60029231-60029232	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538741630	chr15:60029232-60029233	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563299953	chr15:60029243-60029244	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539589853	chr15:60029253-60029254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565749185	chr15:60029271-60029272	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185735561	chr15:60029276-60029277	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145645265	chr15:60029278-60029279	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373942401	chr15:60029300-60029301	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543141447	chr15:60029358-60029359	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565694850	chr15:60029362-60029363	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs561409215	chr15:60029398-60029399	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528479225	chr15:60029467-60029468	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs116909397	chr15:60029483-60029484	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148369501	chr15:60029517-60029518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535021395	chr15:60029571-60029572	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191531121	chr15:60029591-60029592	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs4775201	chr15:60029599-60029600	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs575012348	chr15:60029622-60029623	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150492783	chr15:60029658-60029659	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs567047521	chr15:60029681-60029682	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs537688176	chr15:60029684-60029685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111919641	chr15:60029780-60029781	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs371351526	chr15:60029801-60029802	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs397716003	chr15:60029813-60029814	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs552661948	chr15:60029945-60029946	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577578283	chr15:60029980-60029981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs16941685	chr15:60030005-60030006	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4620904	chr15:60030013-60030014	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs575501866	chr15:60030024-60030025	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs576251640	chr15:60030029-60030030	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368085329	chr15:60030052-60030053	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs542879971	chr15:60030075-60030076	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs545035168	chr15:60030101-60030102	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs545079570	chr15:60030105-60030106	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376956731	chr15:60030146-60030147	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs16941687	chr15:60030152-60030153	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564883556	chr15:60030178-60030179	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs183835788	chr15:60030184-60030185	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540729115	chr15:60030187-60030188	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs565086316	chr15:60030191-60030192	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs532584080	chr15:60030200-60030201	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372006467	chr15:60030250-60030251	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs373657108	chr15:60030252-60030253	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76743754	chr15:60030276-60030277	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530207035	chr15:60030278-60030279	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs146210156	chr15:60030286-60030287	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs16941689	chr15:60030301-60030302	Enhancers	Chromatin interactive region	2 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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:60030000-60034400	Enhancers	Liver	Liver
2	chr15:60030400-60030800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr15:60030600-60033400	Enhancers	HepG2	liver
4	chr15:60033200-60033800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:60033400-60033800	Enhancers	Fetal Intestine Small	intestine
6	chr15:60033800-60035800	Enhancers	Colon Smooth Muscle	Colon
7	chr15:60034000-60034400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:60043800-60044600	Enhancers	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links