Variant report

Variant	nsv873873
Chromosome Location	chr2:36288320-36345738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1199 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10495863	chr2:36288320-36288321	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60846931	chr2:36288343-36288344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577718463	chr2:36288344-36288345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555365859	chr2:36288346-36288347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183190696	chr2:36288378-36288379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534728481	chr2:36288413-36288414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553553498	chr2:36288414-36288415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72865763	chr2:36288452-36288453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs542773929	chr2:36288465-36288466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560866996	chr2:36288495-36288496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374450066	chr2:36288496-36288497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545053042	chr2:36288509-36288510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187878385	chr2:36288540-36288541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148016303	chr2:36288542-36288543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191494449	chr2:36288575-36288576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369488738	chr2:36288594-36288595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531378116	chr2:36288606-36288607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543338403	chr2:36288607-36288608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141616596	chr2:36288616-36288617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528756664	chr2:36288627-36288628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372106310	chr2:36288634-36288635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565591913	chr2:36288639-36288640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373686842	chr2:36288670-36288671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532562397	chr2:36288672-36288673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377707585	chr2:36288694-36288695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182132413	chr2:36288720-36288721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10495864	chr2:36288748-36288749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79820570	chr2:36288786-36288787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76607006	chr2:36288823-36288824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192500744	chr2:36288829-36288830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567463083	chr2:36288837-36288838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534876561	chr2:36288854-36288855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552951718	chr2:36288884-36288885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185068963	chr2:36288887-36288888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538785247	chr2:36288918-36288919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75803867	chr2:36288958-36288959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575820884	chr2:36288985-36288986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150521422	chr2:36288989-36288990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555111613	chr2:36288995-36288996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573467856	chr2:36289010-36289011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540881929	chr2:36289011-36289012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs72865764	chr2:36289012-36289013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532950182	chr2:36289016-36289017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs140310388	chr2:36289026-36289027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530129316	chr2:36289029-36289030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144470307	chr2:36289058-36289059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113220854	chr2:36289070-36289071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548912622	chr2:36289128-36289129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561087405	chr2:36289129-36289130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188590313	chr2:36289131-36289132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36287600-36288800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr2:36287800-36288800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:36288000-36288600	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:36288000-36289000	Weak transcription	Fetal Intestine Large	intestine
5	chr2:36288000-36290200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:36288200-36288400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:36288200-36288600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:36288400-36306400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:36288800-36289000	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:36289000-36289200	Enhancers	Fetal Intestine Large	intestine
11	chr2:36301800-36302200	Enhancers	Fetal Brain Female	brain
12	chr2:36303800-36304200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr2:36314000-36314600	Enhancers	Fetal Brain Female	brain
14	chr2:36318400-36319000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:36319000-36319800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:36319400-36320000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:36319800-36322800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:36324000-36324400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:36324400-36324600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:36345600-36346400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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