Variant report

Variant	nsv395893
Chromosome Location	chr8:66647130-66651736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:66646650..66648902-chr8:66649150..66651692,2	K562	blood:
2	chr8:66645308..66647727-chr8:66649629..66652069,2	MCF-7	breast:
3	chr8:66634318..66636259-chr8:66648468..66650206,2	K562	blood:
4	chr8:66646650..66648902-chr8:66649150..66651692,2	K562	blood:
5	chr8:66645308..66647727-chr8:66649629..66652069,2	MCF-7	breast:
6	chr8:66649066..66651698-chr8:66653132..66654772,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572679337	chr8:66647134-66647135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368148292	chr8:66647151-66647152	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539986176	chr8:66647152-66647153	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371528965	chr8:66647168-66647169	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561438084	chr8:66647173-66647174	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144561326	chr8:66647237-66647238	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550259405	chr8:66647246-66647247	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190051148	chr8:66647247-66647248	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531075439	chr8:66647251-66647252	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552816779	chr8:66647305-66647306	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571106937	chr8:66647322-66647323	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76161786	chr8:66647345-66647346	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375518429	chr8:66647352-66647353	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568521713	chr8:66647392-66647393	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535864904	chr8:66647403-66647404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557039590	chr8:66647407-66647408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181179244	chr8:66647437-66647438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141050204	chr8:66647465-66647466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557626784	chr8:66647477-66647478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186485958	chr8:66647487-66647488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539996861	chr8:66647509-66647510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149813185	chr8:66647510-66647511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202082825	chr8:66647555-66647556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372273693	chr8:66647560-66647561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111507264	chr8:66647597-66647598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544208043	chr8:66647610-66647611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562838710	chr8:66647700-66647701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532917566	chr8:66647751-66647752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552637429	chr8:66647758-66647759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564731930	chr8:66647772-66647773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79257313	chr8:66647863-66647864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368965347	chr8:66647877-66647878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540376487	chr8:66647942-66647943	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189406708	chr8:66647973-66647974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368574689	chr8:66647979-66647980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6986048	chr8:66647985-66647986	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs181055487	chr8:66648021-66648022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552499708	chr8:66648022-66648023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562654241	chr8:66648033-66648034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531664876	chr8:66648066-66648067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551032129	chr8:66648112-66648113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569202612	chr8:66648153-66648154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186437580	chr8:66648156-66648157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376327920	chr8:66648159-66648160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148946163	chr8:66648270-66648271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143701438	chr8:66648291-66648292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533757514	chr8:66648293-66648294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190861825	chr8:66648305-66648306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138341942	chr8:66648314-66648315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183414354	chr8:66648329-66648330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Prostate cancer	22341455	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66602800-66650600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:66620800-66648800	Weak transcription	Psoas Muscle	Psoas
3	chr8:66621400-66673000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:66624600-66661200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:66625600-66661400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:66626200-66652000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:66626200-66664600	Strong transcription	Fetal Thymus	thymus
8	chr8:66626400-66656600	Strong transcription	Primary T cells from cord blood	blood
9	chr8:66626600-66653600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:66626600-66655600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr8:66627200-66655000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:66628000-66652000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:66628200-66660000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:66628200-66660200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:66628400-66650200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:66628400-66651600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:66628400-66652400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:66628400-66652800	Strong transcription	Primary B cells from cord blood	blood
19	chr8:66628400-66663800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:66628400-66666600	Strong transcription	Dnd41	blood
21	chr8:66631400-66647600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:66633800-66653800	Weak transcription	K562	blood
23	chr8:66635000-66648800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:66635200-66674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:66635400-66654400	Weak transcription	Small Intestine	intestine
26	chr8:66635400-66673600	Weak transcription	Brain Substantia Nigra	brain
27	chr8:66635400-66673800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:66635400-66674000	Weak transcription	Fetal Brain Male	brain
29	chr8:66635600-66655000	Weak transcription	HSMMtube	muscle
30	chr8:66637000-66650600	Weak transcription	Fetal Lung	lung
31	chr8:66638800-66647400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:66638800-66655600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:66639200-66654400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:66640800-66652000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr8:66641200-66654400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:66641800-66647600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:66641800-66651200	Strong transcription	Left Ventricle	heart
38	chr8:66641800-66651600	Strong transcription	Fetal Intestine Small	intestine
39	chr8:66641800-66651600	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:66641800-66651800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:66641800-66653000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:66641800-66653400	Strong transcription	Thymus	Thymus
43	chr8:66641800-66655000	Strong transcription	GM12878-XiMat	blood
44	chr8:66641800-66660000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:66642000-66648800	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:66642000-66649200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr8:66642000-66651800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr8:66642000-66651800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr8:66642200-66648800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:66642200-66651200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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