Variant report

Variant	nsv933371
Chromosome Location	chr8:6389824-6399925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6394442..6396969-chr8:6403020..6405358,2	K562	blood:
2	chr8:6393677..6395465-chr8:6397894..6400469,2	K562	blood:
3	chr8:6393677..6395465-chr8:6397894..6400469,2	K562	blood:
4	chr8:6386091..6387814-chr8:6394957..6397917,2	K562	blood:
5	chr8:6393775..6396969-chr8:6403020..6405358,3	K562	blood:

Extended variants
information (count: 609 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573312677	chr8:6389825-6389826	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs142236993	chr8:6389828-6389829	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs200306919	chr8:6389829-6389830	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184190673	chr8:6389844-6389845	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs199686557	chr8:6389847-6389848	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs201337637	chr8:6389881-6389882	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370433128	chr8:6389888-6389889	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs6559167	chr8:6389889-6389890	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200695891	chr8:6389921-6389922	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201292344	chr8:6389923-6389924	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs144017946	chr8:6389934-6389935	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs199805681	chr8:6389935-6389936	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148673964	chr8:6389964-6389965	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142110344	chr8:6389966-6389967	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs199554025	chr8:6389998-6389999	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2515481	chr8:6390027-6390028	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111337624	chr8:6390048-6390049	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576287261	chr8:6390052-6390053	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs200586534	chr8:6390053-6390054	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs151193912	chr8:6390056-6390057	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2515482	chr8:6390079-6390080	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541542905	chr8:6390084-6390085	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs564447219	chr8:6390094-6390095	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs33912684	chr8:6390096-6390097	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs386411988	chr8:6390111-6390112	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs10662997	chr8:6390113-6390114	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs3214789	chr8:6390140-6390141	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs386360360	chr8:6390142-6390143	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs5889177	chr8:6390143-6390144	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs1031304	chr8:6390162-6390163	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543490191	chr8:6390228-6390229	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564002074	chr8:6390238-6390239	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114206264	chr8:6390278-6390279	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115833214	chr8:6390280-6390281	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559522822	chr8:6390315-6390316	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527355753	chr8:6390318-6390319	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1031303	chr8:6390337-6390338	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192755114	chr8:6390361-6390362	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140349803	chr8:6390363-6390364	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528264562	chr8:6390369-6390370	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549559342	chr8:6390385-6390386	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150311695	chr8:6390421-6390422	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569924044	chr8:6390442-6390443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147591607	chr8:6390467-6390468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34601172	chr8:6390477-6390478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12681141	chr8:6390479-6390480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17077419	chr8:6390530-6390531	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs561425029	chr8:6390532-6390533	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183460292	chr8:6390573-6390574	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530495158	chr8:6390597-6390598	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:6352400-6391400	Weak transcription	Ovary	ovary
4	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
5	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
6	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
13	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
14	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:6373200-6390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:6373600-6391400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
18	chr8:6373800-6390800	Weak transcription	Fetal Muscle Leg	muscle
19	chr8:6374800-6390400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:6375200-6404400	Weak transcription	NHEK	skin
22	chr8:6377000-6398200	Weak transcription	Spleen	Spleen
23	chr8:6377400-6396000	Weak transcription	Aorta	Aorta
24	chr8:6377400-6398000	Weak transcription	Left Ventricle	heart
25	chr8:6377400-6398600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:6377400-6400800	Weak transcription	Thymus	Thymus
27	chr8:6377400-6405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:6377400-6414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:6377600-6390000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:6377600-6390800	Weak transcription	Fetal Stomach	stomach
31	chr8:6378000-6395800	Weak transcription	Lung	lung
32	chr8:6380800-6390400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:6382400-6391800	Weak transcription	Adipose Nuclei	Adipose
34	chr8:6385800-6390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:6386000-6390200	Strong transcription	Dnd41	blood
36	chr8:6386200-6417400	Weak transcription	Pancreas	Pancrea
37	chr8:6386600-6390200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:6386600-6390600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr8:6386800-6391800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:6386800-6393800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:6386800-6405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:6387000-6403800	Weak transcription	Primary T cells from cord blood	blood
43	chr8:6387400-6398000	Weak transcription	HUVEC	blood vessel
44	chr8:6388200-6390000	Strong transcription	Fetal Thymus	thymus
45	chr8:6388400-6390400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:6388400-6391400	Strong transcription	Placenta	Placenta
47	chr8:6388400-6393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:6388600-6390000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:6388600-6390400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:6388600-6390400	Enhancers	Brain Substantia Nigra	brain

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