Variant report

Variant	nsv963569
Chromosome Location	chr3:159462963-159467316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:159454827..159457737-chr3:159462058..159464997,2	MCF-7	breast:
2	chr3:159456584..159459020-chr3:159461976..159463575,2	K562	blood:
3	chr3:159467307..159469276-chr3:159479696..159482079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250588	chromatin interactions

Extended variants
information (count: 135 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533738769	chr3:159463004-159463005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555647150	chr3:159463020-159463021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191957156	chr3:159463088-159463089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570114415	chr3:159463093-159463094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544357357	chr3:159463103-159463104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556159531	chr3:159463104-159463105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577586014	chr3:159463131-159463132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1461101	chr3:159463169-159463170	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184254086	chr3:159463188-159463189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189428525	chr3:159463254-159463255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9823882	chr3:159463264-159463265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs561975544	chr3:159463275-159463276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546578214	chr3:159463486-159463487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76544458	chr3:159463495-159463496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568884653	chr3:159463514-159463515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573534266	chr3:159463526-159463527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116674103	chr3:159463591-159463592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551612620	chr3:159463594-159463595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142027156	chr3:159463649-159463650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534122592	chr3:159463706-159463707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555583803	chr3:159463710-159463711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116450167	chr3:159463746-159463747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146308569	chr3:159463754-159463755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114327269	chr3:159463761-159463762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112366996	chr3:159463770-159463771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577522840	chr3:159463787-159463788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192783750	chr3:159463833-159463834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553780167	chr3:159463862-159463863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184225512	chr3:159463873-159463874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540560812	chr3:159463882-159463883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190800940	chr3:159463890-159463891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181904509	chr3:159463891-159463892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375501669	chr3:159463897-159463898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186079478	chr3:159464014-159464015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189027633	chr3:159464141-159464142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544253787	chr3:159464155-159464156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562651905	chr3:159464176-159464177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181429606	chr3:159464203-159464204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535187332	chr3:159464232-159464233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551463625	chr3:159464287-159464288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553315867	chr3:159464341-159464342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76765845	chr3:159464342-159464343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113419645	chr3:159464413-159464414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527556037	chr3:159464510-159464511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376359519	chr3:159464556-159464557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567000997	chr3:159464608-159464609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567420470	chr3:159464621-159464622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573797283	chr3:159464640-159464641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538045074	chr3:159464686-159464687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371071641	chr3:159464704-159464705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159450800-159480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:159451800-159470200	Weak transcription	NHEK	skin
3	chr3:159451800-159473200	Weak transcription	Aorta	Aorta
4	chr3:159451800-159478800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:159452000-159466200	Weak transcription	HMEC	breast
6	chr3:159452400-159468200	Weak transcription	HSMM	muscle
7	chr3:159455800-159466200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:159457200-159466000	Weak transcription	Liver	Liver
9	chr3:159458200-159466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:159458200-159472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:159458400-159466200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:159460400-159464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:159461600-159465800	Weak transcription	A549	lung
14	chr3:159464600-159478800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr3:159464800-159466400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:159464800-159467200	Weak transcription	Left Ventricle	heart
17	chr3:159465400-159466400	Enhancers	Lung	lung
18	chr3:159465800-159467000	Enhancers	A549	lung
19	chr3:159466000-159468400	Enhancers	Liver	Liver
20	chr3:159466200-159466400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:159466200-159466400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:159466200-159466400	Enhancers	HMEC	breast
23	chr3:159466200-159466400	Enhancers	NH-A	brain
24	chr3:159466200-159466600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:159466200-159466800	Enhancers	Osteobl	bone
26	chr3:159466200-159467000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:159466200-159467400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:159466200-159467600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:159466400-159467000	Weak transcription	Lung	lung
30	chr3:159466400-159467200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:159466400-159467400	Enhancers	Fetal Intestine Large	intestine
32	chr3:159466400-159468400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:159466400-159468400	Weak transcription	NH-A	brain
34	chr3:159466400-159469000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:159466400-159478000	Weak transcription	HMEC	breast
36	chr3:159466600-159470800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:159466800-159468400	Weak transcription	Osteobl	bone
38	chr3:159467000-159467200	Enhancers	Lung	lung
39	chr3:159467000-159467600	Flanking Active TSS	A549	lung
40	chr3:159467000-159467600	Enhancers	HepG2	liver
41	chr3:159467000-159467800	Enhancers	Fetal Intestine Small	intestine
42	chr3:159467000-159467800	Enhancers	Fetal Kidney	kidney
43	chr3:159467000-159468200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:159467200-159467400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr3:159467200-159467400	Enhancers	Left Ventricle	heart
46	chr3:159467200-159468400	Weak transcription	Lung	lung

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