Variant report

Variant	nsv979893
Chromosome Location	chr3:157523985-157526573
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	chr3:157523321..157526085-chr3:157529275..157530889,2	K562	blood:
2	chr3:157511714..157513863-chr3:157522364..157525063,2	MCF-7	breast:

Extended variants
information (count: 71 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6768254	chr3:157524027-157524028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34345789	chr3:157524055-157524056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527353171	chr3:157524077-157524078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542847562	chr3:157524092-157524093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560882543	chr3:157524093-157524094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531674385	chr3:157524122-157524123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549805523	chr3:157524172-157524173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531385497	chr3:157524814-157524815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543731648	chr3:157524826-157524827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150420862	chr3:157524847-157524848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75896011	chr3:157524875-157524876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386667450	chr3:157524886-157524887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78459146	chr3:157524887-157524888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188818830	chr3:157524907-157524908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3914481	chr3:157524952-157524953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567875409	chr3:157524962-157524963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538072526	chr3:157524973-157524974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34023008	chr3:157524982-157524983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77915410	chr3:157525007-157525008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571852256	chr3:157525009-157525010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80227592	chr3:157525037-157525038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558725855	chr3:157525040-157525041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377442721	chr3:157525062-157525063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138339499	chr3:157525063-157525064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369850986	chr3:157525118-157525119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553846179	chr3:157525124-157525125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181244228	chr3:157525132-157525133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142878906	chr3:157525168-157525169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115652507	chr3:157525179-157525180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373006897	chr3:157525190-157525191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144969225	chr3:157525221-157525222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111802238	chr3:157525322-157525323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80053152	chr3:157525360-157525361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77194349	chr3:157525394-157525395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186181512	chr3:157525408-157525409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191037521	chr3:157525415-157525416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540916049	chr3:157525436-157525437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560160259	chr3:157525449-157525450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138833505	chr3:157525462-157525463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181053014	chr3:157525518-157525519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186046059	chr3:157525524-157525525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546395663	chr3:157525552-157525553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532151327	chr3:157525588-157525589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191167543	chr3:157525596-157525597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571863423	chr3:157525658-157525659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539389506	chr3:157525740-157525741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548090967	chr3:157525907-157525908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565716228	chr3:157525942-157525943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536266391	chr3:157525963-157525964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554517933	chr3:157525996-157525997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157522200-157524200	Enhancers	Fetal Intestine Large	intestine
2	chr3:157523000-157524000	Enhancers	Liver	Liver
3	chr3:157524800-157525200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:157524800-157525600	Enhancers	NHDF-Ad	bronchial
5	chr3:157524800-157525800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:157525800-157529200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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