Variant report

Variant	nsv961763
Chromosome Location	chr2:76347246-76353798
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	chr2:75874032..75875721-chr2:76349204..76351782,2	K562	blood:
2	chr2:76333336..76335344-chr2:76346016..76347795,2	K562	blood:

Variant related genes	Relation type
ENSG00000233107	chromatin interactions
ENSG00000115364	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531841704	chr2:76347272-76347273	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550373844	chr2:76347279-76347280	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142102383	chr2:76347289-76347290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145759205	chr2:76347305-76347306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369671993	chr2:76347326-76347327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185732069	chr2:76347327-76347328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558769033	chr2:76347336-76347337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566116117	chr2:76347341-76347342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs36054939	chr2:76347346-76347347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs548727173	chr2:76347356-76347357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548991159	chr2:76347374-76347375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs70937888	chr2:76347375-76347376	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs398104454	chr2:76347383-76347384	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs376404494	chr2:76347384-76347385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567309895	chr2:76347386-76347387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191980561	chr2:76347392-76347393	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565930897	chr2:76347405-76347406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs62165098	chr2:76347406-76347407	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181934737	chr2:76347444-76347445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377300633	chr2:76347495-76347496	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187434566	chr2:76347498-76347499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554809832	chr2:76347499-76347500	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115194837	chr2:76347558-76347559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79755580	chr2:76347617-76347618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541504849	chr2:76347640-76347641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563211675	chr2:76347654-76347655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575315148	chr2:76347663-76347664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578000762	chr2:76347763-76347764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs13413589	chr2:76349207-76349208	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557607233	chr2:76349217-76349218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs575867119	chr2:76349235-76349236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117719019	chr2:76349316-76349317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564145544	chr2:76349380-76349381	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111510197	chr2:76349410-76349411	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114704479	chr2:76349423-76349424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561522460	chr2:76349424-76349425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529055493	chr2:76349429-76349430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550516637	chr2:76349435-76349436	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562761027	chr2:76349473-76349474	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533080548	chr2:76349487-76349488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142892336	chr2:76349504-76349505	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs36032322	chr2:76349523-76349524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566514100	chr2:76349524-76349525	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557616099	chr2:76349526-76349527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533858279	chr2:76349552-76349553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs185326038	chr2:76349569-76349570	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544133101	chr2:76349623-76349624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567272780	chr2:76349629-76349630	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536015849	chr2:76349671-76349672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557284055	chr2:76349720-76349721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76350600-76350800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:76353600-76353800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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