Variant report

Variant	nsv526506
Chromosome Location	chr2:72192369-72206006
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72194025..72195653-chr2:72198955..72201195,2	K562	blood:
2	chr2:72191678..72193899-chr2:72220946..72223503,2	MCF-7	breast:
3	chr2:72189932..72192395-chr2:72194287..72196881,3	K562	blood:
4	chr2:72189932..72192395-chr2:72194287..72196881,3	K562	blood:
5	chr2:72194025..72195653-chr2:72198955..72201195,2	K562	blood:
6	chr2:72198746..72201447-chr2:72212541..72214422,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4852828	chr2:72192369-72192370	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561928871	chr2:72192379-72192380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528154041	chr2:72192389-72192390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188633383	chr2:72192420-72192421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191734293	chr2:72192481-72192482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533291123	chr2:72192513-72192514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371338195	chr2:72192515-72192516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535043878	chr2:72192594-72192595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142932478	chr2:72192622-72192623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569107463	chr2:72192627-72192628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555923584	chr2:72192680-72192681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546603626	chr2:72192690-72192691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557920103	chr2:72192782-72192783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146163012	chr2:72192803-72192804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367687338	chr2:72192865-72192866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140176197	chr2:72192884-72192885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34771393	chr2:72192908-72192909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555854926	chr2:72192924-72192925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574180742	chr2:72192959-72192960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200841735	chr2:72192971-72192972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544589436	chr2:72193103-72193104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368372794	chr2:72193126-72193127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182455470	chr2:72193136-72193137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578184448	chr2:72193157-72193158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143214533	chr2:72193163-72193164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560735226	chr2:72193164-72193165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111591650	chr2:72193252-72193253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186902173	chr2:72193255-72193256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368857803	chr2:72193257-72193258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76207353	chr2:72193295-72193296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561400744	chr2:72193312-72193313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549116825	chr2:72193322-72193323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191751616	chr2:72193343-72193344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144416544	chr2:72193353-72193354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568796260	chr2:72193439-72193440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148430997	chr2:72193463-72193464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142544433	chr2:72193505-72193506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150989132	chr2:72193508-72193509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552619707	chr2:72193530-72193531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182074708	chr2:72193574-72193575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151009969	chr2:72193581-72193582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs67149272	chr2:72193582-72193583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555620280	chr2:72193597-72193598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs62147737	chr2:72198620-72198621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369804423	chr2:72198639-72198640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76459518	chr2:72198651-72198652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74550824	chr2:72198653-72198654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74385263	chr2:72198654-72198655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530623989	chr2:72198656-72198657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535842546	chr2:72198687-72198688	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
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
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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72191400-72193600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr2:72192200-72193200	Enhancers	HSMM	muscle
3	chr2:72198600-72199400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:72198800-72199000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:72201200-72202800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:72201800-72202200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:72201800-72202200	Enhancers	NHDF-Ad	bronchial

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