Variant report

Variant	nsv967621
Chromosome Location	chr8:100243842-100246149
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142966436	chr8:100243847-100243848	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566994419	chr8:100243850-100243851	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182037730	chr8:100243853-100243854	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146108014	chr8:100243874-100243875	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34559955	chr8:100243979-100243980	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139223268	chr8:100243982-100243983	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569430915	chr8:100244006-100244007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538161519	chr8:100244019-100244020	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144023532	chr8:100244025-100244026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571686191	chr8:100244050-100244051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374295991	chr8:100244138-100244139	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114588170	chr8:100244259-100244260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554189239	chr8:100244276-100244277	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570832045	chr8:100244277-100244278	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574086658	chr8:100244339-100244340	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374066300	chr8:100244359-100244360	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543095878	chr8:100244363-100244364	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187247250	chr8:100244430-100244431	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555564544	chr8:100244446-100244447	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554437361	chr8:100244447-100244448	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576139432	chr8:100244451-100244452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190985267	chr8:100244453-100244454	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112326090	chr8:100244481-100244482	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143943530	chr8:100244612-100244613	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540653739	chr8:100244647-100244648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560531134	chr8:100244685-100244686	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182047733	chr8:100244687-100244688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117004925	chr8:100244692-100244693	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148618702	chr8:100244723-100244724	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531901831	chr8:100244726-100244727	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371360855	chr8:100244727-100244728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55832528	chr8:100244760-100244761	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552125954	chr8:100244841-100244842	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572001898	chr8:100244893-100244894	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534482127	chr8:100244942-100244943	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375754045	chr8:100244943-100244944	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554246356	chr8:100244978-100244979	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113545916	chr8:100245054-100245055	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs72672332	chr8:100245061-100245062	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs113176745	chr8:100245081-100245082	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs117968073	chr8:100245093-100245094	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs544775089	chr8:100245098-100245099	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548603269	chr8:100245112-100245113	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs568125770	chr8:100245143-100245144	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs537063507	chr8:100245150-100245151	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143932072	chr8:100245155-100245156	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs186685497	chr8:100245184-100245185	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370021259	chr8:100245225-100245226	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529653351	chr8:100245237-100245238	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190067186	chr8:100245269-100245270	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100164200-100245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:100178800-100245000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:100178800-100245000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:100198400-100245800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:100201400-100245200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:100203800-100245600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr8:100204200-100248200	Weak transcription	Esophagus	oesophagus
8	chr8:100207000-100245600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:100207000-100290400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr8:100210000-100252400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:100212600-100253000	Weak transcription	Lung	lung
12	chr8:100214800-100244800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr8:100214800-100252600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:100214800-100293200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:100215000-100246000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:100215800-100248000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:100216800-100252200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:100219400-100246200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:100223800-100244200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:100223800-100245200	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:100228200-100244800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:100230400-100257800	Weak transcription	Aorta	Aorta
23	chr8:100231000-100246200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:100231000-100253000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:100231000-100255400	Weak transcription	Right Ventricle	heart
26	chr8:100231200-100245200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:100231200-100245800	Weak transcription	Primary B cells from cord blood	blood
28	chr8:100231200-100245800	Weak transcription	Fetal Lung	lung
29	chr8:100231200-100245800	Weak transcription	NHLF	lung
30	chr8:100231200-100246000	Weak transcription	HSMMtube	muscle
31	chr8:100231200-100253000	Weak transcription	Gastric	stomach
32	chr8:100231400-100251200	Weak transcription	Ovary	ovary
33	chr8:100232000-100247600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:100232000-100267400	Weak transcription	Left Ventricle	heart
35	chr8:100234000-100245000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:100234200-100251600	Weak transcription	GM12878-XiMat	blood
37	chr8:100236400-100245000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:100236400-100253000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:100236600-100245600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:100236600-100252600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:100236800-100246000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:100236800-100253000	Weak transcription	Osteobl	bone
43	chr8:100237400-100245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:100237600-100245000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:100237800-100246200	Weak transcription	Thymus	Thymus
46	chr8:100240000-100247800	Weak transcription	Placenta	Placenta
47	chr8:100240000-100249800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:100240400-100245200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:100241200-100255400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr8:100241400-100244800	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links