Variant report

Variant	nsv977716
Chromosome Location	chr15:51643279-51644701
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:51643838-51643882	MCF-7	breast:	n/a	n/a
2	CTCF	chr15:51643847-51643868	MCF-7	breast:	n/a	n/a
3	CTCF	chr15:51643839-51643895	MCF-7	breast:	n/a	n/a
4	CTCF	chr15:51643800-51643950	HMEC	breast:	n/a	n/a
5	FOS	chr15:51643495-51643499	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr15:51643435-51643536	HepG2	liver:	n/a	chr15:51643486-51643497

No.	Distal block	Cell Line	Cell type
1	chr15:51631967..51634345-chr15:51643752..51646529,2	MCF-7	breast:
2	chr15:51633491..51635862-chr15:51644041..51645648,2	MCF-7	breast:
3	chr15:51642370..51644642-chr15:51658744..51660938,2	MCF-7	breast:
4	chr15:51632518..51637077-chr15:51639957..51644018,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270378	TF binding region
ENSG00000259194	chromatin interactions
ENSG00000186417	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182037205	chr15:51643305-51643306	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554362245	chr15:51643310-51643311	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs72729214	chr15:51643333-51643334	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186180642	chr15:51643372-51643373	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs148577654	chr15:51643385-51643386	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190928962	chr15:51643387-51643388	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs376978687	chr15:51643400-51643401	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182672333	chr15:51643405-51643406	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572417010	chr15:51643418-51643419	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7178417	chr15:51643449-51643450	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs560902563	chr15:51643458-51643459	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576172847	chr15:51643462-51643463	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs188069500	chr15:51643485-51643486	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs142988133	chr15:51643533-51643534	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs2470162	chr15:51643567-51643568	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191245751	chr15:51643568-51643569	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529790902	chr15:51643569-51643570	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs151124503	chr15:51643603-51643604	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74669593	chr15:51643648-51643649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548948331	chr15:51643662-51643663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs567347263	chr15:51643747-51643748	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs16964277	chr15:51643785-51643786	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550019744	chr15:51643816-51643817	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571756234	chr15:51643820-51643821	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs28670704	chr15:51643873-51643874	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553961232	chr15:51643934-51643935	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs200143509	chr15:51643949-51643950	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs79917986	chr15:51644002-51644003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs141036940	chr15:51644026-51644027	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554575674	chr15:51644073-51644074	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs543833320	chr15:51644082-51644083	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs576109419	chr15:51644094-51644095	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs565404155	chr15:51644104-51644105	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373701568	chr15:51644128-51644129	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182639862	chr15:51644170-51644171	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143843485	chr15:51644176-51644177	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375299588	chr15:51644233-51644234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368688221	chr15:51644234-51644235	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371847034	chr15:51644238-51644239	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377173858	chr15:51644243-51644244	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs370315652	chr15:51644246-51644247	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs375126020	chr15:51644252-51644253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs369895199	chr15:51644258-51644259	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372849141	chr15:51644263-51644264	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs146814999	chr15:51644264-51644265	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs187671164	chr15:51644267-51644268	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549271250	chr15:51644307-51644308	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs560907015	chr15:51644317-51644318	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs2446420	chr15:51644338-51644339	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78866778	chr15:51644360-51644361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	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
Breast cancer	21785460	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51634800-51643400	Weak transcription	Lung	lung
2	chr15:51637400-51643400	Weak transcription	Placenta	Placenta
3	chr15:51640200-51646800	Enhancers	Brain Substantia Nigra	brain
4	chr15:51640800-51676200	Weak transcription	Aorta	Aorta
5	chr15:51641600-51644400	Enhancers	Brain Angular Gyrus	brain
6	chr15:51641600-51645200	Weak transcription	Stomach Mucosa	stomach
7	chr15:51641600-51646200	Enhancers	Brain Cingulate Gyrus	brain
8	chr15:51641800-51644000	Enhancers	Stomach Smooth Muscle	stomach
9	chr15:51641800-51644200	Enhancers	Adipose Nuclei	Adipose
10	chr15:51641800-51646800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:51642000-51647200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr15:51642200-51644000	Enhancers	Left Ventricle	heart
13	chr15:51642600-51643600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:51642600-51643600	Bivalent Enhancer	GM12878-XiMat	blood
15	chr15:51642800-51645400	Weak transcription	Right Ventricle	heart
16	chr15:51642800-51646600	Weak transcription	Right Atrium	heart
17	chr15:51642800-51647600	Enhancers	Brain Hippocampus Middle	brain
18	chr15:51643000-51643400	Weak transcription	Brain Anterior Caudate	brain
19	chr15:51643000-51643400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:51643400-51644000	Enhancers	Lung	lung
21	chr15:51643400-51644200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:51643400-51645800	Enhancers	Placenta	Placenta
23	chr15:51643400-51646000	Enhancers	Brain Anterior Caudate	brain
24	chr15:51643600-51644000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:51644000-51645200	Weak transcription	Left Ventricle	heart
26	chr15:51644000-51645400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:51644200-51646000	Enhancers	Brain Germinal Matrix	brain
28	chr15:51644200-51648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr15:51644400-51644800	Weak transcription	Brain Angular Gyrus	brain

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