Variant report

Variant	nsv877900
Chromosome Location	chr3:164339967-164373656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:164241644..164242499-chr3:164352238..164353178,5	MCF-7	breast:
2	chr3:164154258..164155585-chr3:164352234..164353310,15	MCF-7	breast:
3	chr3:164097711..164099012-chr3:164352332..164353250,14	MCF-7	breast:
4	chr3:164352695..164353520-chr3:164544596..164545181,2	MCF-7	breast:
5	chr3:164097659..164099012-chr3:164352282..164353331,34	MCF-7	breast:
6	chr3:164355558..164357908-chr3:164371177..164373033,2	K562	blood:
7	chr3:164241669..164242499-chr3:164352238..164352926,2	MCF-7	breast:
8	chr3:164155004..164155575-chr3:164352325..164352831,2	MCF-7	breast:
9	chr3:164355558..164357908-chr3:164371177..164373033,2	K562	blood:
10	chr3:164154966..164155479-chr3:164352397..164353197,2	MCF-7	breast:
11	chr3:164097708..164098703-chr3:164352353..164353241,9	MCF-7	breast:
12	chr3:164280228..164281066-chr3:164352373..164353274,2	MCF-7	breast:

No data

Extended variants
information (count: 352 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75458143	chr3:164352623-164352624	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563569600	chr3:164352632-164352633	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13061546	chr3:164352679-164352680	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545400400	chr3:164352733-164352734	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79412092	chr3:164352745-164352746	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs115783478	chr3:164352755-164352756	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34741709	chr3:164352831-164352832	Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114396065	chr3:164352841-164352842	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs190341370	chr3:164352842-164352843	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550224984	chr3:164352855-164352856	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs11714785	chr3:164352900-164352901	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372095249	chr3:164352921-164352922	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538280359	chr3:164352939-164352940	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558125752	chr3:164352967-164352968	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74702126	chr3:164353002-164353003	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534420588	chr3:164353057-164353058	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs114469117	chr3:164353064-164353065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574567876	chr3:164353071-164353072	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs149363350	chr3:164353086-164353087	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs181059371	chr3:164353152-164353153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368277146	chr3:164353159-164353160	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs59447921	chr3:164353170-164353171	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545460335	chr3:164353322-164353323	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs565289765	chr3:164353353-164353354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs185215959	chr3:164353364-164353365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190371556	chr3:164353401-164353402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541561400	chr3:164353408-164353409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561401975	chr3:164353421-164353422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568838669	chr3:164353422-164353423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147772770	chr3:164353423-164353424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs57481270	chr3:164353424-164353425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566365021	chr3:164353458-164353459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537801372	chr3:164353475-164353476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200698866	chr3:164353526-164353527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371745380	chr3:164353532-164353533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149055044	chr3:164353533-164353534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144674800	chr3:164353539-164353540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138418091	chr3:164353540-164353541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34314672	chr3:164353548-164353549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552412757	chr3:164353551-164353552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373587933	chr3:164353576-164353577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534292163	chr3:164353580-164353581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7630938	chr3:164353617-164353618	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547205017	chr3:164353638-164353639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7630962	chr3:164353693-164353694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557111137	chr3:164353826-164353827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs16848432	chr3:164353848-164353849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34493335	chr3:164353849-164353850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546125457	chr3:164353929-164353930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570299814	chr3:164354004-164354005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:164352600-164352800	Enhancers	Liver	Liver
2	chr3:164352600-164353400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:164352800-164353000	Flanking Active TSS	Liver	Liver
4	chr3:164352800-164353400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:164353000-164353400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:164353000-164353400	Active TSS	Liver	Liver
7	chr3:164353400-164354000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:164353400-164358200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:164354000-164358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:164358200-164358400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:164358200-164358600	Enhancers	NHDF-Ad	bronchial
12	chr3:164358200-164359200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:164358200-164359400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:164358200-164360200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:164358400-164358800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:164358600-164359400	Weak transcription	NHDF-Ad	bronchial
17	chr3:164358800-164359200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:164359200-164359400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:164359400-164360000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:164359400-164360400	Enhancers	NHDF-Ad	bronchial

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