Variant report

Variant	nsv1025376
Chromosome Location	chr8:132214793-132281893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:
2	chr8:132258327..132259215-chr8:132816586..132817090,2	MCF-7	breast:
3	chr8:132257100..132257721-chr8:132812114..132812872,2	MCF-7	breast:
4	chr8:132257743..132258760-chr8:132816151..132817060,6	MCF-7	breast:
5	chr8:132249911..132252163-chr8:132258560..132261164,2	K562	blood:

Extended variants
information (count: 1247 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:1247 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193302684	chr8:132227010-132227011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537416217	chr8:132227011-132227012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555725650	chr8:132227024-132227025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574222356	chr8:132227033-132227034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6415532	chr8:132227035-132227036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553973717	chr8:132227044-132227045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138792144	chr8:132227063-132227064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185528030	chr8:132227098-132227099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546100085	chr8:132227100-132227101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558172318	chr8:132227122-132227123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564189587	chr8:132227124-132227125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188005927	chr8:132227127-132227128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544644514	chr8:132227212-132227213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149358494	chr8:132227250-132227251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191341626	chr8:132227255-132227256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548355133	chr8:132227307-132227308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567060293	chr8:132227333-132227334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565309800	chr8:132227374-132227375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146294561	chr8:132227379-132227380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552851601	chr8:132227380-132227381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570844442	chr8:132227408-132227409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs538129732	chr8:132227409-132227410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555787144	chr8:132227464-132227465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115646598	chr8:132227483-132227484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530796809	chr8:132227542-132227543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535178636	chr8:132227543-132227544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114167496	chr8:132227570-132227571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572219384	chr8:132227572-132227573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183687862	chr8:132227579-132227580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79394368	chr8:132227605-132227606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139428695	chr8:132227609-132227610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527446748	chr8:132227615-132227616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142625154	chr8:132227634-132227635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570592367	chr8:132227642-132227643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188741832	chr8:132227676-132227677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74708051	chr8:132227699-132227700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148057683	chr8:132227708-132227709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201878152	chr8:132227709-132227710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34419447	chr8:132227710-132227711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs5895080	chr8:132227713-132227714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143472457	chr8:132227716-132227717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145925319	chr8:132227717-132227718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375992738	chr8:132227728-132227729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542334800	chr8:132227786-132227787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549691877	chr8:132227837-132227838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181084445	chr8:132227838-132227839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537299362	chr8:132227850-132227851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552525450	chr8:132227870-132227871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148676963	chr8:132227932-132227933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531922412	chr8:132227937-132227938	Weak transcription	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132227000-132227800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:132227400-132227600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:132227400-132230600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:132227600-132227800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:132227800-132229200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:132229200-132229600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:132229400-132229600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:132229400-132231000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:132229600-132232600	Enhancers	HMEC	breast
10	chr8:132229800-132230600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:132230000-132232400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:132230400-132231600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:132230400-132232400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:132230400-132232400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:132230600-132231000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:132230600-132231400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr8:132230600-132231400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:132230600-132231400	Enhancers	NH-A	brain
19	chr8:132230600-132231800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr8:132230600-132231800	Enhancers	HSMM	muscle
21	chr8:132230600-132231800	Enhancers	NHEK	skin
22	chr8:132230800-132231200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:132230800-132231400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:132230800-132231400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:132231000-132231400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:132231400-132231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:132232400-132239400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:132239400-132240200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:132241600-132242600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:132250000-132250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:132253800-132259000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:132257400-132257800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:132258400-132259200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:132259000-132261800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:132260800-132261000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:132262000-132262600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr8:132262000-132262800	Enhancers	HMEC	breast
38	chr8:132262200-132262600	Enhancers	GM12878-XiMat	blood
39	chr8:132262600-132262800	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:132262600-132263400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
41	chr8:132262800-132263000	Active TSS	GM12878-XiMat	blood
42	chr8:132272600-132274600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:132273600-132274600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr8:132273600-132274800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:132281800-132282200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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