Variant report

Variant	nsv517687
Chromosome Location	chr2:188234678-188238334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13432953	chr2:188234678-188234679	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181984859	chr2:188234687-188234688	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547877524	chr2:188234698-188234699	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7608001	chr2:188234717-188234718	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537035462	chr2:188234756-188234757	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369118229	chr2:188234764-188234765	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75761022	chr2:188234804-188234805	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571099949	chr2:188234837-188234838	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17463994	chr2:188234844-188234845	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553567392	chr2:188234845-188234846	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575068460	chr2:188234884-188234885	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs860846	chr2:188234928-188234929	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs570508903	chr2:188234929-188234930	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146207626	chr2:188234998-188234999	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572074721	chr2:188235014-188235015	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185596684	chr2:188235033-188235034	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76409765	chr2:188235063-188235064	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532543869	chr2:188235079-188235080	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3771087	chr2:188235100-188235101	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190517015	chr2:188235119-188235120	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566930524	chr2:188235127-188235128	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559150044	chr2:188235162-188235163	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs858758	chr2:188235258-188235259	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs547922144	chr2:188235277-188235278	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181787920	chr2:188235278-188235279	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569257121	chr2:188235316-188235317	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186040550	chr2:188235340-188235341	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552121122	chr2:188235367-188235368	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138789988	chr2:188235394-188235395	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535371924	chr2:188235419-188235420	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553678514	chr2:188235465-188235466	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568713821	chr2:188235492-188235493	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114327680	chr2:188235511-188235512	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141278199	chr2:188235517-188235518	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372476623	chr2:188235537-188235538	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545894646	chr2:188235567-188235568	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566931467	chr2:188235572-188235573	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60134881	chr2:188235582-188235583	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369416335	chr2:188235593-188235594	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs858759	chr2:188235611-188235612	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs540973353	chr2:188235638-188235639	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189913666	chr2:188235700-188235701	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370323542	chr2:188235717-188235718	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529846888	chr2:188235724-188235725	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541576181	chr2:188235752-188235753	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534731360	chr2:188235754-188235755	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554755913	chr2:188235755-188235756	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554896524	chr2:188235770-188235771	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369341304	chr2:188235775-188235776	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570452378	chr2:188235851-188235852	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
4	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
5	chr2:188214600-188257800	Weak transcription	Ovary	ovary
6	chr2:188223000-188236800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:188223000-188255200	Weak transcription	Fetal Stomach	stomach
8	chr2:188223600-188244400	Weak transcription	Fetal Kidney	kidney
9	chr2:188223800-188236000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:188223800-188239600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:188223800-188242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:188223800-188246400	Weak transcription	Left Ventricle	heart
13	chr2:188223800-188250800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:188223800-188257800	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:188225000-188251200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:188225800-188239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:188228200-188238400	Weak transcription	Adipose Nuclei	Adipose
18	chr2:188228600-188237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:188232800-188236600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:188233800-188238600	Genic enhancers	HUVEC	blood vessel
21	chr2:188234400-188234800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:188234600-188236600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:188234800-188236800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:188236000-188239400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr2:188236600-188236800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:188236600-188238000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:188236800-188237200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:188236800-188237400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:188236800-188237400	Enhancers	Osteobl	bone
30	chr2:188236800-188237600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:188237000-188237600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:188237200-188237600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:188237200-188251000	Weak transcription	Psoas Muscle	Psoas
34	chr2:188237400-188237600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:188237400-188245600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:188237600-188241800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:188237600-188246400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:188238000-188248000	Weak transcription	Muscle Satellite Cultured Cells	--

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