Variant report

Variant	nsv583995
Chromosome Location	chr2:185099685-185107332
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:185103488..185105465-chr2:185244326..185245928,2	K562	blood:
2	chr15:41186270..41188900-chr2:185100150..185103068,2	K562	blood:

Variant related genes	Relation type
ENSG00000104142	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572958915	chr2:185100002-185100003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376627292	chr2:185100025-185100026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540471130	chr2:185100032-185100033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34960422	chr2:185100064-185100065	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75333477	chr2:185100076-185100077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74609134	chr2:185100089-185100090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184281042	chr2:185100094-185100095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540797853	chr2:185100119-185100120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563128790	chr2:185100122-185100123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189380330	chr2:185100144-185100145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75792683	chr2:185100161-185100162	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139086694	chr2:185100186-185100187	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368057994	chr2:185100245-185100246	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs371865556	chr2:185100276-185100277	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527876935	chr2:185100302-185100303	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181790194	chr2:185100313-185100314	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148355510	chr2:185100338-185100339	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377098269	chr2:185100372-185100373	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567234963	chr2:185100385-185100386	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143965608	chr2:185100392-185100393	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146455427	chr2:185100438-185100439	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs550565933	chr2:185100477-185100478	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs369568145	chr2:185100479-185100480	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568870260	chr2:185100503-185100504	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7596901	chr2:185100535-185100536	Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557567702	chr2:185100545-185100546	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566592649	chr2:185100593-185100594	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533734630	chr2:185100602-185100603	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375800944	chr2:185100611-185100612	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140761093	chr2:185100616-185100617	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs544105427	chr2:185100640-185100641	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556097473	chr2:185100642-185100643	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs145556353	chr2:185100777-185100778	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545046830	chr2:185100842-185100843	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560362375	chr2:185100873-185100874	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527819025	chr2:185100890-185100891	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184480110	chr2:185100980-185100981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs561551121	chr2:185100986-185100987	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531993930	chr2:185101000-185101001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs6759052	chr2:185101095-185101096	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572008391	chr2:185101113-185101114	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78637924	chr2:185101152-185101153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs571255318	chr2:185101160-185101161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371522280	chr2:185101165-185101166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148909966	chr2:185101180-185101181	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116494182	chr2:185101196-185101197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs370588915	chr2:185101277-185101278	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533911381	chr2:185101286-185101287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548859356	chr2:185101304-185101305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs72901145	chr2:185101311-185101312	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185100000-185100200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr2:185100200-185100800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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