Variant report

Variant	nsv875493
Chromosome Location	chr2:185100535-185131675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:185115001..185116702-chr2:185121013..185123546,2	K562	blood:
2	chr15:41186270..41188900-chr2:185100150..185103068,2	K562	blood:
3	chr2:185128748..185131745-chr2:185134110..185138355,3	K562	blood:
4	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
5	chr2:185115001..185116702-chr2:185121013..185123546,2	K562	blood:

Variant related genes	Relation type
ENSG00000104142	chromatin interactions

Extended variants
information (count: 446 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7596901	chr2:185100535-185100536	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557567702	chr2:185100545-185100546	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566592649	chr2:185100593-185100594	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533734630	chr2:185100602-185100603	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375800944	chr2:185100611-185100612	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs140761093	chr2:185100616-185100617	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544105427	chr2:185100640-185100641	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556097473	chr2:185100642-185100643	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145556353	chr2:185100777-185100778	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545046830	chr2:185100842-185100843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560362375	chr2:185100873-185100874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs527819025	chr2:185100890-185100891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184480110	chr2:185100980-185100981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561551121	chr2:185100986-185100987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531993930	chr2:185101000-185101001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs6759052	chr2:185101095-185101096	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572008391	chr2:185101113-185101114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78637924	chr2:185101152-185101153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs571255318	chr2:185101160-185101161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371522280	chr2:185101165-185101166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148909966	chr2:185101180-185101181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116494182	chr2:185101196-185101197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370588915	chr2:185101277-185101278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533911381	chr2:185101286-185101287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548859356	chr2:185101304-185101305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs72901145	chr2:185101311-185101312	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545922622	chr2:185101378-185101379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs189004152	chr2:185101399-185101400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556861903	chr2:185101400-185101401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs180845991	chr2:185101402-185101403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577544250	chr2:185101404-185101405	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112823668	chr2:185101418-185101419	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538638640	chr2:185101431-185101432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35453312	chr2:185101436-185101437	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572419449	chr2:185101444-185101445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543108338	chr2:185101464-185101465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561281691	chr2:185101495-185101496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527498523	chr2:185101538-185101539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576698617	chr2:185101541-185101542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs186520639	chr2:185101582-185101583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs565564769	chr2:185101586-185101587	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs532872983	chr2:185101588-185101589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs112334373	chr2:185101668-185101669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147008998	chr2:185101681-185101682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191346771	chr2:185101698-185101699	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549055468	chr2:185101737-185101738	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181719488	chr2:185101738-185101739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1037619	chr2:185101747-185101748	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185966017	chr2:185101765-185101766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs530898262	chr2:185101784-185101785	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Intellectual disability	22102821	CNVD
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185100200-185100800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:185116200-185116600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:185116200-185117000	Enhancers	Adipose Nuclei	Adipose
4	chr2:185117000-185118800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:185118800-185119000	Enhancers	Adipose Nuclei	Adipose
6	chr2:185121400-185121800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:185125000-185125600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:185125400-185127400	Enhancers	Liver	Liver
9	chr2:185125600-185127000	Enhancers	Adipose Nuclei	Adipose
10	chr2:185126000-185126800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:185126800-185128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:185127000-185134200	Weak transcription	Adipose Nuclei	Adipose
13	chr2:185128600-185129200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:185129000-185129200	Enhancers	Liver	Liver
15	chr2:185129200-185134800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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