Variant report

Variant	nsv821613
Chromosome Location	chr8:131061065-131062625
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	chr8:131062555..131064822-chr8:131096828..131099567,2	K562	blood:
2	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 153 )

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	rs569645968	chr8:131061065-131061066	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191173673	chr8:131061089-131061090	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199538527	chr8:131061136-131061137	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567238216	chr8:131061159-131061160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117278781	chr8:131061162-131061163	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201891607	chr8:131061241-131061242	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141761681	chr8:131061243-131061244	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577588274	chr8:131061246-131061247	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539304744	chr8:131061250-131061251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200370629	chr8:131061261-131061262	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577208099	chr8:131061283-131061284	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557671344	chr8:131061320-131061321	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201943007	chr8:131061333-131061334	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576036151	chr8:131061388-131061389	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200289499	chr8:131061389-131061390	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543241142	chr8:131061390-131061391	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180793169	chr8:131061399-131061400	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186658495	chr8:131061401-131061402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs5895022	chr8:131061410-131061411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540726797	chr8:131061412-131061413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199586324	chr8:131061431-131061432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373575932	chr8:131061433-131061434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528779397	chr8:131061449-131061450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191011540	chr8:131061454-131061455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373510635	chr8:131061464-131061465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200225782	chr8:131061472-131061473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182889218	chr8:131061490-131061491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71510393	chr8:131061505-131061506	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs5895023	chr8:131061518-131061519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36053403	chr8:131061526-131061527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201615645	chr8:131061536-131061537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34745281	chr8:131061543-131061544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565108798	chr8:131061546-131061547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374650126	chr8:131061550-131061551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34787353	chr8:131061555-131061556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377726645	chr8:131061578-131061579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370511739	chr8:131061588-131061589	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199744810	chr8:131061598-131061599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149973321	chr8:131061617-131061618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111206112	chr8:131061629-131061630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373625405	chr8:131061640-131061641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376913070	chr8:131061695-131061696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201647614	chr8:131061697-131061698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370490993	chr8:131061712-131061713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199539937	chr8:131061730-131061731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200789430	chr8:131061743-131061744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532519111	chr8:131061761-131061762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550587435	chr8:131061764-131061765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532672241	chr8:131061774-131061775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373898978	chr8:131061785-131061786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

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
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	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
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131051800-131063800	Weak transcription	Aorta	Aorta
3	chr8:131055000-131063800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:131055200-131063000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:131055400-131063800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:131055400-131064600	Weak transcription	HMEC	breast
7	chr8:131056000-131066600	Weak transcription	Hela-S3	cervix
8	chr8:131058000-131063000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:131058000-131063800	Weak transcription	Pancreas	Pancrea
10	chr8:131058000-131065200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:131058000-131065400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:131058400-131062800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:131058400-131063600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr8:131058400-131063800	Weak transcription	Fetal Brain Male	brain
15	chr8:131058400-131064200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:131058400-131065000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:131058400-131065000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:131058400-131065200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:131058400-131065400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:131058400-131066400	Weak transcription	Ovary	ovary
21	chr8:131058400-131066600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:131058400-131066600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr8:131058400-131073800	Weak transcription	Stomach Mucosa	stomach
24	chr8:131058600-131066000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:131058600-131066600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:131058600-131068000	Weak transcription	Colonic Mucosa	Colon
27	chr8:131058800-131062800	Weak transcription	Osteobl	bone
28	chr8:131058800-131063600	Weak transcription	Brain Anterior Caudate	brain
29	chr8:131058800-131063800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:131058800-131063800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:131058800-131065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr8:131058800-131065200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:131058800-131066200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:131058800-131066400	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:131058800-131066600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr8:131058800-131066800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:131058800-131068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:131058800-131068600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:131058800-131068800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:131058800-131074200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:131059000-131061200	Strong transcription	Fetal Stomach	stomach
42	chr8:131059000-131062600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:131059000-131063200	Weak transcription	Fetal Thymus	thymus
44	chr8:131059000-131063200	Weak transcription	NH-A	brain
45	chr8:131059000-131063800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr8:131059000-131065000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:131059000-131065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr8:131059000-131065200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:131059000-131065200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr8:131059000-131065400	Weak transcription	Brain Angular Gyrus	brain

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