Variant report

Variant	nsv396580
Chromosome Location	chr8:100636237-100643963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:100634441..100637349-chr8:100638779..100641653,3	K562	blood:
2	chr8:100634973..100637054-chr8:100640847..100642958,2	MCF-7	breast:
3	chr8:100634441..100637349-chr8:100638779..100641653,3	K562	blood:
4	chr4:62349743..62350606-chr8:100642196..100642782,2	MCF-7	breast:
5	chr8:100634973..100637054-chr8:100640847..100642958,2	MCF-7	breast:
6	chr8:100641638..100644745-chr8:100644767..100647893,3	K562	blood:
7	chr8:100637655..100639702-chr8:100646117..100648663,2	MCF-7	breast:

Extended variants
information (count: 267 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58273802	chr8:100636237-100636238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71202870	chr8:100636238-100636239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59766786	chr8:100636239-100636240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59310808	chr8:100636240-100636241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375769899	chr8:100636241-100636242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58827818	chr8:100636242-100636243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61009675	chr8:100636243-100636244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs57845348	chr8:100636244-100636245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58411095	chr8:100636245-100636246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs58321616	chr8:100636246-100636247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61357749	chr8:100636247-100636248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13268194	chr8:100636264-100636265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76095969	chr8:100636296-100636297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2035617	chr8:100636309-100636310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527284698	chr8:100636334-100636335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577565421	chr8:100636367-100636368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2035618	chr8:100636386-100636387	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112664972	chr8:100636475-100636476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2035619	chr8:100636515-100636516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551289147	chr8:100636551-100636552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147078047	chr8:100636586-100636587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138266531	chr8:100636620-100636621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148852965	chr8:100636638-100636639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193001246	chr8:100636658-100636659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10955219	chr8:100636669-100636670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs372518359	chr8:100636712-100636713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535840713	chr8:100636784-100636785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143473844	chr8:100636811-100636812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545885951	chr8:100636833-100636834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375643803	chr8:100636877-100636878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185661433	chr8:100636895-100636896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564864231	chr8:100636897-100636898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558529774	chr8:100636951-100636952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532673848	chr8:100637008-100637009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75130916	chr8:100637036-100637037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547114702	chr8:100637037-100637038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201118170	chr8:100637052-100637053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553946097	chr8:100637108-100637109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552701322	chr8:100637127-100637128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527414243	chr8:100637131-100637132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377518096	chr8:100637195-100637196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566132295	chr8:100637207-100637208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542787674	chr8:100637229-100637230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562878528	chr8:100637232-100637233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576403049	chr8:100637263-100637264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544891931	chr8:100637268-100637269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564841619	chr8:100637272-100637273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369256286	chr8:100637290-100637291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527435558	chr8:100637299-100637300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72674698	chr8:100637305-100637306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100622200-100655400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:100624600-100645200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:100631200-100648000	Weak transcription	Fetal Lung	lung
4	chr8:100631600-100645600	Weak transcription	Primary T cells from cord blood	blood
5	chr8:100631600-100649000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:100631600-100654400	Weak transcription	Left Ventricle	heart
7	chr8:100631600-100658800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
9	chr8:100632000-100636600	Weak transcription	HUVEC	blood vessel
10	chr8:100632000-100640000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:100632000-100654000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:100632200-100654200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:100632800-100645600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr8:100633000-100636400	Weak transcription	HMEC	breast
15	chr8:100633200-100636400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:100633200-100636600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:100633200-100636600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:100633200-100636800	Weak transcription	Osteobl	bone
19	chr8:100633200-100637000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:100633600-100636400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:100634600-100636800	Weak transcription	Fetal Heart	heart
22	chr8:100634600-100640400	Weak transcription	Fetal Intestine Large	intestine
23	chr8:100635800-100637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:100636200-100637200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr8:100636200-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:100636400-100637000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:100636400-100637000	Enhancers	HMEC	breast
28	chr8:100636400-100637000	Enhancers	NHEK	skin
29	chr8:100636400-100637400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:100636400-100645800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:100636600-100637000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:100636600-100637000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:100636600-100637000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:100636600-100637000	Enhancers	Colon Smooth Muscle	Colon
35	chr8:100636600-100637000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:100636600-100637000	Enhancers	HUVEC	blood vessel
37	chr8:100636800-100637000	Enhancers	Fetal Heart	heart
38	chr8:100636800-100637200	Enhancers	HSMMtube	muscle
39	chr8:100636800-100637200	Enhancers	Osteobl	bone
40	chr8:100637000-100637200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:100637000-100637400	Weak transcription	Fetal Heart	heart
42	chr8:100637000-100648600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:100637000-100654400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:100637200-100637800	Weak transcription	Fetal Stomach	stomach
45	chr8:100637200-100639400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:100637600-100637800	Enhancers	Psoas Muscle	Psoas
47	chr8:100637800-100638000	ZNF genes & repeats	Fetal Stomach	stomach
48	chr8:100637800-100658600	Weak transcription	Psoas Muscle	Psoas
49	chr8:100639800-100640400	Enhancers	Fetal Thymus	thymus
50	chr8:100640000-100641200	Enhancers	Thymus	Thymus

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