Variant report

Variant	nsv977585
Chromosome Location	chr14:40075682-40102272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 718 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:718 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186918583	chr14:40075703-40075704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554111854	chr14:40075733-40075734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144672102	chr14:40075752-40075753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574312228	chr14:40075769-40075770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200599878	chr14:40075799-40075800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191335431	chr14:40075812-40075813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138593734	chr14:40075901-40075902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149393562	chr14:40075925-40075926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376245954	chr14:40075927-40075928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143773646	chr14:40075930-40075931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17109439	chr14:40075979-40075980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572698777	chr14:40075992-40075993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541319705	chr14:40075998-40075999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561348614	chr14:40076044-40076045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17109441	chr14:40076047-40076048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148160075	chr14:40076093-40076094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543819356	chr14:40076231-40076232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563809610	chr14:40076233-40076234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532644963	chr14:40076270-40076271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141997023	chr14:40076277-40076278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565690457	chr14:40076286-40076287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35196801	chr14:40076329-40076330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57495351	chr14:40076371-40076372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398024857	chr14:40076387-40076388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184861552	chr14:40076393-40076394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs117746504	chr14:40076408-40076409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188124023	chr14:40076420-40076421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139454854	chr14:40076465-40076466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34739616	chr14:40076493-40076494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556528186	chr14:40076562-40076563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570259358	chr14:40076563-40076564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539098938	chr14:40076586-40076587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559112246	chr14:40076598-40076599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192921779	chr14:40076620-40076621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554989938	chr14:40076671-40076672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533123566	chr14:40076681-40076682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185096425	chr14:40076713-40076714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367641063	chr14:40076734-40076735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563672346	chr14:40076766-40076767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147334378	chr14:40076831-40076832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140701454	chr14:40076864-40076865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143048086	chr14:40076888-40076889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543442084	chr14:40076972-40076973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188927545	chr14:40076982-40076983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147470632	chr14:40077001-40077002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79066291	chr14:40077002-40077003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182013286	chr14:40077061-40077062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184653127	chr14:40077097-40077098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570451681	chr14:40077098-40077099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550163939	chr14:40077108-40077109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40072400-40078200	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr14:40072600-40076000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr14:40072600-40078200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:40073400-40076400	Enhancers	Primary T cells from cord blood	blood
5	chr14:40073600-40076000	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr14:40074000-40075800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:40074800-40077400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:40075000-40076000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr14:40075200-40076200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr14:40075200-40076400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:40075800-40076800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:40076000-40076800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:40076000-40076800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr14:40076000-40077000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:40076200-40076800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:40076400-40077600	Weak transcription	Primary T cells from cord blood	blood
17	chr14:40076400-40078600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:40076800-40077000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr14:40076800-40077400	Enhancers	Dnd41	blood
20	chr14:40076800-40078200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:40076800-40078800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr14:40077400-40078000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:40077600-40077800	Enhancers	Primary T cells from cord blood	blood
24	chr14:40078000-40078600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:40078200-40078400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr14:40078400-40079200	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr14:40078600-40078800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:40078600-40083800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr14:40083200-40083400	Enhancers	HSMMtube	muscle
30	chr14:40083200-40085800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:40083400-40083600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:40083400-40084800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr14:40083400-40084800	Weak transcription	HSMMtube	muscle
34	chr14:40083600-40084000	Enhancers	Primary T cells from cord blood	blood
35	chr14:40083600-40084800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:40083600-40085000	Enhancers	Dnd41	blood
37	chr14:40083800-40085200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr14:40083800-40085200	Enhancers	HepG2	liver
39	chr14:40084400-40085000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:40084800-40085000	Enhancers	HSMMtube	muscle
41	chr14:40085800-40086200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:40085800-40086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:40085800-40086600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:40085800-40086800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:40086000-40086400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:40086000-40086400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr14:40086000-40086400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:40086000-40086600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:40086800-40087000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:40088600-40090600	Enhancers	Skeletal Muscle Male	skeletal muscle

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