Variant report

Variant	nsv516431
Chromosome Location	chr8:6745485-6754548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6754502..6756661-chr8:6759647..6761646,2	K562	blood:
2	chr8:6748341..6750164-chr8:6751483..6753518,2	K562	blood:
3	chr8:6751586..6753338-chr8:6758046..6759646,2	K562	blood:
4	chr8:6739980..6742198-chr8:6744981..6748845,3	K562	blood:
5	chr8:6746435..6748872-chr8:6752945..6754567,2	K562	blood:
6	chr8:6723813..6726017-chr8:6752032..6754952,2	MCF-7	breast:
7	chr8:6748341..6750164-chr8:6751483..6753518,2	K562	blood:
8	chr8:6746435..6748872-chr8:6752945..6754567,2	K562	blood:

Extended variants
information (count: 609 )
Associated
traits (count: 135 )

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	rs17581175	chr8:6745485-6745486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559924662	chr8:6745489-6745490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142353197	chr8:6745495-6745496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370582584	chr8:6745499-6745500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573340895	chr8:6745504-6745505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7826243	chr8:6745508-6745509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188302320	chr8:6745511-6745512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148317734	chr8:6745530-6745531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141470974	chr8:6745536-6745537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117282134	chr8:6745562-6745563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553248813	chr8:6745567-6745568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529169622	chr8:6745587-6745588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566674289	chr8:6745596-6745597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146290837	chr8:6745607-6745608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565909843	chr8:6745634-6745635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548765091	chr8:6745639-6745640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145632347	chr8:6745647-6745648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534776006	chr8:6745648-6745649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369242438	chr8:6745654-6745655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138260784	chr8:6745664-6745665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142663502	chr8:6745666-6745667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146039695	chr8:6745691-6745692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557413960	chr8:6745695-6745696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113587360	chr8:6745700-6745701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567643546	chr8:6745721-6745722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59212673	chr8:6745726-6745727	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553379878	chr8:6745740-6745741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573430137	chr8:6745751-6745752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191268756	chr8:6745755-6745756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559065626	chr8:6745762-6745763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184229035	chr8:6745785-6745786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200916377	chr8:6745800-6745801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535501286	chr8:6745801-6745802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115817971	chr8:6745805-6745806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562982253	chr8:6745806-6745807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375784813	chr8:6745809-6745810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118123621	chr8:6745813-6745814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139912458	chr8:6745824-6745825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6996181	chr8:6745829-6745830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575103135	chr8:6745853-6745854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551304337	chr8:6745857-6745858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144558144	chr8:6745858-6745859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148416310	chr8:6745863-6745864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551078828	chr8:6745878-6745879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142567370	chr8:6745901-6745902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374321780	chr8:6745919-6745920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536247345	chr8:6745936-6745937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147559538	chr8:6745943-6745944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181200077	chr8:6745947-6745948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187109503	chr8:6745967-6745968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6741200-6746600	Weak transcription	Dnd41	blood
2	chr8:6742000-6751800	Weak transcription	Esophagus	oesophagus
3	chr8:6743800-6745600	Enhancers	NHEK	skin
4	chr8:6744600-6745600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:6744800-6746200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:6746200-6752200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:6746600-6746800	Active TSS	Spleen	Spleen
8	chr8:6746600-6747800	Enhancers	Dnd41	blood
9	chr8:6746800-6747000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:6747000-6748600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:6747000-6748600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:6747600-6749600	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr8:6747800-6748000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:6747800-6748200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr8:6747800-6748200	Enhancers	Fetal Thymus	thymus
16	chr8:6747800-6748200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr8:6747800-6748400	Enhancers	Primary B cells from peripheral blood	blood
18	chr8:6747800-6748600	Flanking Active TSS	Dnd41	blood
19	chr8:6748000-6748600	Enhancers	Primary T cells from cord blood	blood
20	chr8:6748600-6749000	Weak transcription	Primary T cells from cord blood	blood
21	chr8:6748600-6750000	Enhancers	Dnd41	blood
22	chr8:6749000-6749400	Enhancers	Primary T cells from cord blood	blood
23	chr8:6749800-6750000	Enhancers	Pancreas	Pancrea
24	chr8:6750000-6751600	Weak transcription	Pancreas	Pancrea
25	chr8:6750000-6754000	Weak transcription	Dnd41	blood
26	chr8:6751600-6752000	Enhancers	Pancreas	Pancrea
27	chr8:6751800-6753200	Enhancers	Esophagus	oesophagus
28	chr8:6751800-6753400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:6751800-6753400	Enhancers	HMEC	breast
30	chr8:6752000-6753000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:6752000-6753000	Weak transcription	Pancreas	Pancrea
32	chr8:6752000-6753400	Enhancers	NHEK	skin
33	chr8:6752000-6754200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr8:6752200-6753000	Enhancers	Placenta	Placenta
35	chr8:6752200-6753200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:6752200-6753600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:6753000-6754800	Enhancers	Pancreas	Pancrea
38	chr8:6753000-6757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:6753200-6760000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:6753200-6760000	Weak transcription	Esophagus	oesophagus
41	chr8:6753400-6757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:6753400-6757800	Weak transcription	HMEC	breast
43	chr8:6753400-6758000	Weak transcription	NHEK	skin
44	chr8:6753600-6758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:6754000-6755800	Enhancers	Dnd41	blood
46	chr8:6754200-6757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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