Variant report

Variant	nsv977844
Chromosome Location	chr15:44251952-44264610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:44257377..44260472-chr15:44263670..44267581,4	K562	blood:
2	chr15:44257421..44260379-chr15:44264658..44267581,2	K562	blood:
3	chr15:44257377..44260472-chr15:44263670..44267581,4	K562	blood:

Extended variants
information (count: 485 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367953647	chr15:44251959-44251960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571960760	chr15:44251979-44251980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540976118	chr15:44252007-44252008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557640974	chr15:44252044-44252045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139688385	chr15:44252051-44252052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs16951321	chr15:44252077-44252078	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144814848	chr15:44252088-44252089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529893949	chr15:44252090-44252091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529072586	chr15:44252105-44252106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188930928	chr15:44252112-44252113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116961834	chr15:44252119-44252120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193110892	chr15:44252137-44252138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547770226	chr15:44252147-44252148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577685791	chr15:44252192-44252193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148562585	chr15:44252234-44252235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533713964	chr15:44252264-44252265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185103374	chr15:44252301-44252302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570296027	chr15:44252309-44252310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536011906	chr15:44252315-44252316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28729677	chr15:44252362-44252363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565729924	chr15:44252400-44252401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147172189	chr15:44252421-44252422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190182907	chr15:44252431-44252432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140428880	chr15:44252432-44252433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543348440	chr15:44252445-44252446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527869331	chr15:44252451-44252452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2929277	chr15:44252487-44252488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573778948	chr15:44252498-44252499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151153314	chr15:44252511-44252512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561517923	chr15:44252522-44252523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572540543	chr15:44252555-44252556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367826558	chr15:44252576-44252577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541532727	chr15:44252579-44252580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140088397	chr15:44252637-44252638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372173744	chr15:44252638-44252639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149957551	chr15:44252655-44252656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550509132	chr15:44252677-44252678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563979493	chr15:44252694-44252695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529466535	chr15:44252699-44252700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145046888	chr15:44252701-44252702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62023684	chr15:44252725-44252726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534745479	chr15:44252726-44252727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551047755	chr15:44252727-44252728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191754155	chr15:44252761-44252762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571241629	chr15:44252789-44252790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536624277	chr15:44252796-44252797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556843676	chr15:44252825-44252826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573837387	chr15:44252852-44252853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536143444	chr15:44252855-44252856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553177882	chr15:44252874-44252875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44249800-44252000	Enhancers	Brain Hippocampus Middle	brain
2	chr15:44249800-44252200	Enhancers	Brain Anterior Caudate	brain
3	chr15:44249800-44252200	Enhancers	NHLF	lung
4	chr15:44250000-44252000	Enhancers	Brain Cingulate Gyrus	brain
5	chr15:44250000-44252000	Enhancers	NHDF-Ad	bronchial
6	chr15:44250000-44253200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:44250400-44252000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:44250400-44252000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:44250600-44252000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:44250600-44252000	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr15:44250600-44252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:44250600-44252200	Enhancers	Brain Substantia Nigra	brain
13	chr15:44250800-44252000	Enhancers	HSMM	muscle
14	chr15:44250800-44252000	Enhancers	Osteobl	bone
15	chr15:44251000-44252000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:44251000-44252000	Enhancers	Brain Germinal Matrix	brain
17	chr15:44251000-44252000	Enhancers	Fetal Brain Female	brain
18	chr15:44251000-44252000	Enhancers	NHEK	skin
19	chr15:44251000-44267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:44251200-44252000	Enhancers	NH-A	brain
21	chr15:44251200-44252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:44251400-44256800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:44251600-44257000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr15:44251600-44258600	Weak transcription	Brain Angular Gyrus	brain
25	chr15:44251600-44260400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:44251800-44252000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:44251800-44259000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:44252000-44257000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:44252000-44258600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:44252000-44258600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:44252000-44258600	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:44252000-44258800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:44252000-44260400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr15:44252000-44262000	Weak transcription	Fetal Brain Female	brain
35	chr15:44252800-44253000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:44253200-44257000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:44256800-44257400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:44257000-44257400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:44257000-44257400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:44257000-44257400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr15:44257400-44258600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:44257400-44258800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:44257400-44261800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:44257400-44281000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:44258400-44263200	Enhancers	Brain Substantia Nigra	brain
46	chr15:44258600-44258800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:44258600-44259000	Enhancers	Brain Cingulate Gyrus	brain
48	chr15:44258600-44259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:44258600-44259200	Enhancers	Brain Angular Gyrus	brain
50	chr15:44258600-44259400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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