Variant report

Variant	nsv972211
Chromosome Location	chr8:59735634-59742139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 216 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549939369	chr8:59735645-59735646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368637268	chr8:59735651-59735652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577169507	chr8:59735662-59735663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76759544	chr8:59735668-59735669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562806830	chr8:59735693-59735694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531910754	chr8:59735717-59735718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190585070	chr8:59735718-59735719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183143905	chr8:59735719-59735720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56171269	chr8:59735725-59735726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527897473	chr8:59735731-59735732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547529651	chr8:59735753-59735754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570981536	chr8:59735816-59735817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563354065	chr8:59735821-59735822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533334132	chr8:59735840-59735841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550236342	chr8:59735849-59735850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569941696	chr8:59735864-59735865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535426709	chr8:59735875-59735876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149487658	chr8:59735876-59735877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528926990	chr8:59735974-59735975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565694457	chr8:59736041-59736042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114464191	chr8:59736165-59736166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557402285	chr8:59736176-59736177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17292859	chr8:59736227-59736228	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147294703	chr8:59736244-59736245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576664639	chr8:59736308-59736309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374374387	chr8:59736313-59736314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564674899	chr8:59736365-59736366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140948282	chr8:59736385-59736386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565852875	chr8:59736395-59736396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs826727	chr8:59736400-59736401	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs541662997	chr8:59736448-59736449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371835307	chr8:59736459-59736460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374706288	chr8:59736494-59736495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533491002	chr8:59736547-59736548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144922610	chr8:59736594-59736595	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144362312	chr8:59736646-59736647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62505115	chr8:59736647-59736648	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570104150	chr8:59736704-59736705	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529295775	chr8:59736722-59736723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12550146	chr8:59736762-59736763	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147525896	chr8:59736842-59736843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534483517	chr8:59736843-59736844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148586784	chr8:59736864-59736865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188906300	chr8:59736888-59736889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371458240	chr8:59736931-59736932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55914621	chr8:59736951-59736952	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs142767974	chr8:59736982-59736983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78614653	chr8:59737036-59737037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542631801	chr8:59737093-59737094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191986450	chr8:59737153-59737154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59714600-59746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:59715000-59742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:59720600-59736800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:59720600-59738200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr8:59720600-59754800	Weak transcription	Small Intestine	intestine
7	chr8:59720800-59739000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:59720800-59745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:59721000-59739000	Weak transcription	NHLF	lung
11	chr8:59721000-59739200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:59721000-59745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:59721400-59745000	Weak transcription	Fetal Brain Male	brain
14	chr8:59721600-59736400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:59721600-59736800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:59721600-59745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:59722000-59737800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:59722400-59757200	Strong transcription	Dnd41	blood
19	chr8:59724600-59738800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:59727000-59745400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:59728200-59736200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:59728200-59736400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:59728400-59736000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:59728400-59741600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:59728400-59741600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:59729600-59736200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:59729600-59736200	Weak transcription	Fetal Intestine Small	intestine
28	chr8:59729600-59736200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:59729600-59736400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:59729600-59739000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:59729600-59740000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:59729600-59754800	Weak transcription	Gastric	stomach
33	chr8:59729800-59736200	Weak transcription	Fetal Stomach	stomach
34	chr8:59729800-59739000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr8:59730200-59736000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:59730200-59736600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:59730200-59739800	Weak transcription	Fetal Lung	lung
38	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
39	chr8:59731200-59738000	Weak transcription	NHDF-Ad	bronchial
40	chr8:59732000-59745000	Weak transcription	Fetal Kidney	kidney
41	chr8:59732200-59755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:59733600-59739200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:59734000-59740000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:59734000-59745200	Weak transcription	Fetal Brain Female	brain
45	chr8:59734200-59739200	Weak transcription	HUVEC	blood vessel
46	chr8:59734200-59739600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:59734800-59740200	Strong transcription	Primary T cells from cord blood	blood
48	chr8:59735000-59739600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:59735000-59740200	Strong transcription	Thymus	Thymus
50	chr8:59735200-59739200	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links