Variant report

Variant	esv3429746
Chromosome Location	chr15:57077560-57079758
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	chr15:57024297..57027296-chr15:57075507..57077671,3	K562	blood:
2	chr15:57024297..57026872-chr15:57075507..57078884,3	K562	blood:

Variant related genes	Relation type
ENSG00000137871	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190369965	chr15:57077568-57077569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181511952	chr15:57077572-57077573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542616567	chr15:57077583-57077584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563589692	chr15:57077585-57077586	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17819616	chr15:57077607-57077608	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373678243	chr15:57077649-57077650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112978388	chr15:57077671-57077672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77695777	chr15:57077720-57077721	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565781946	chr15:57077741-57077742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs140198568	chr15:57077775-57077776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs185486948	chr15:57077785-57077786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377541003	chr15:57077787-57077788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76440254	chr15:57077805-57077806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs111559158	chr15:57077809-57077810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113677381	chr15:57077814-57077815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145953296	chr15:57077879-57077880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189952375	chr15:57077882-57077883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs538997011	chr15:57077927-57077928	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs180905855	chr15:57077948-57077949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572559142	chr15:57077991-57077992	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs185974974	chr15:57077995-57077996	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190705762	chr15:57078042-57078043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs537281727	chr15:57078046-57078047	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574339246	chr15:57078113-57078114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543426260	chr15:57078151-57078152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184197034	chr15:57078250-57078251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs188744820	chr15:57078251-57078252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560738051	chr15:57078254-57078255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs7178196	chr15:57078278-57078279	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs559452888	chr15:57078281-57078282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs528299154	chr15:57078287-57078288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs1657942	chr15:57078313-57078314	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs151170896	chr15:57078348-57078349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546664842	chr15:57078427-57078428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs368325029	chr15:57078473-57078474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536377214	chr15:57078483-57078484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140271583	chr15:57078601-57078602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575174888	chr15:57078618-57078619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs36002859	chr15:57078685-57078686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569758735	chr15:57078716-57078717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571675676	chr15:57078791-57078792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538902821	chr15:57078811-57078812	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558987355	chr15:57078934-57078935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs190812914	chr15:57078947-57078948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs77335105	chr15:57078992-57078993	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372221873	chr15:57079016-57079017	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574560912	chr15:57079121-57079122	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149935647	chr15:57079241-57079242	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs556985495	chr15:57079251-57079252	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs576911638	chr15:57079261-57079262	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57073000-57086200	Weak transcription	Aorta	Aorta
2	chr15:57076800-57078800	Weak transcription	K562	blood
3	chr15:57077400-57078200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr15:57078800-57079000	Enhancers	GM12878-XiMat	blood
5	chr15:57078800-57079000	Flanking Active TSS	K562	blood
6	chr15:57078800-57079000	Enhancers	NHDF-Ad	bronchial
7	chr15:57079000-57079200	Flanking Active TSS	GM12878-XiMat	blood
8	chr15:57079000-57079200	Enhancers	K562	blood
9	chr15:57079000-57079200	Flanking Active TSS	NHDF-Ad	bronchial
10	chr15:57079000-57079600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:57079200-57079400	Enhancers	GM12878-XiMat	blood
12	chr15:57079200-57079400	Active TSS	K562	blood
13	chr15:57079200-57079600	Active TSS	NHDF-Ad	bronchial
14	chr15:57079400-57079600	Flanking Active TSS	GM12878-XiMat	blood
15	chr15:57079600-57079800	Enhancers	GM12878-XiMat	blood

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