Variant report

Variant	nsv517761
Chromosome Location	chr8:132202889-132252439
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	chr8:132049071..132049842-chr8:132202495..132203099,2	MCF-7	breast:
2	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:

Extended variants
information (count: 710 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75029660	chr8:132210626-132210627	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs369220731	chr8:132210629-132210630	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs181080597	chr8:132210679-132210680	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs186267960	chr8:132210682-132210683	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs542966596	chr8:132210699-132210700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555192643	chr8:132210718-132210719	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190587213	chr8:132210753-132210754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs114085911	chr8:132210844-132210845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34069325	chr8:132210884-132210885	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542140794	chr8:132210897-132210898	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577906893	chr8:132210956-132210957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs549082043	chr8:132210958-132210959	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562024869	chr8:132211017-132211018	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547686121	chr8:132211096-132211097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545333499	chr8:132211123-132211124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563530200	chr8:132211177-132211178	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531763825	chr8:132211178-132211179	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs183514051	chr8:132211187-132211188	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561919582	chr8:132211192-132211193	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs529417936	chr8:132211195-132211196	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147867631	chr8:132211226-132211227	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77678868	chr8:132211285-132211286	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141448243	chr8:132211309-132211310	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs551659567	chr8:132211328-132211329	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548006263	chr8:132211354-132211355	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs536660304	chr8:132211371-132211372	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs186376391	chr8:132211420-132211421	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540108632	chr8:132211427-132211428	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs117952207	chr8:132211463-132211464	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531047358	chr8:132211502-132211503	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534761837	chr8:132211535-132211536	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs376096654	chr8:132211539-132211540	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192185025	chr8:132211623-132211624	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs577916857	chr8:132211638-132211639	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs146997598	chr8:132211672-132211673	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575958916	chr8:132211700-132211701	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs182637331	chr8:132211702-132211703	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs151009210	chr8:132211739-132211740	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187724613	chr8:132211746-132211747	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs536451281	chr8:132211747-132211748	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs542537992	chr8:132211819-132211820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78420675	chr8:132211849-132211850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529265017	chr8:132211851-132211852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547878131	chr8:132211931-132211932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559372320	chr8:132211934-132211935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533367648	chr8:132211996-132211997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544473785	chr8:132213209-132213210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs181392077	chr8:132213274-132213275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs9643261	chr8:132213280-132213281	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544037499	chr8:132213284-132213285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastric cancer	16891809	CNVD
Colorectal cancer	19455253	CNVD
Pregnancies with abnormal ultrasound findings	21110858	CNVD
Breast cancer	19181860	CNVD
Brain cancer	19584924	CNVD
Medulloblastoma	19584924	CNVD
Follicular lymphoma	17699855	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132210600-132211400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132211400-132211800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:132211800-132212000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:132213200-132213800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr8:132227000-132227800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:132227400-132227600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:132227400-132230600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:132227600-132227800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:132227800-132229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:132229200-132229600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:132229400-132229600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:132229400-132231000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr8:132229600-132232600	Enhancers	HMEC	breast
14	chr8:132229800-132230600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:132230000-132232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:132230400-132231600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:132230400-132232400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:132230400-132232400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:132230600-132231000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:132230600-132231400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:132230600-132231400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr8:132230600-132231400	Enhancers	NH-A	brain
23	chr8:132230600-132231800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:132230600-132231800	Enhancers	HSMM	muscle
25	chr8:132230600-132231800	Enhancers	NHEK	skin
26	chr8:132230800-132231200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:132230800-132231400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:132230800-132231400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:132231000-132231400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr8:132231400-132231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:132232400-132239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:132239400-132240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:132241600-132242600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:132250000-132250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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