Variant report

Variant	nsv1027280
Chromosome Location	chr8:9958259-10058984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:
2	chr8:9959952..9962225-chr8:9964575..9967404,2	MCF-7	breast:
3	chr8:9911097..9912602-chr8:10046216..10048538,2	MCF-7	breast:
4	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
5	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:
6	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:
7	chr8:9910777..9912807-chr8:10008037..10009823,2	MCF-7	breast:
8	chr8:9963502..9966052-chr8:9972558..9974638,2	MCF-7	breast:
9	chr8:9911729..9913700-chr8:9963859..9966058,2	MCF-7	breast:
10	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
11	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:
12	chr8:9963502..9966052-chr8:9972558..9974638,2	MCF-7	breast:
13	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:
14	chr8:9959952..9962225-chr8:9964575..9967404,2	MCF-7	breast:
15	chr8:9954771..9956774-chr8:9960148..9962685,2	K562	blood:
16	chr19:10063347..10063968-chr8:9970215..9971121,2	MCF-7	breast:
17	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260093	chromatin interactions
ENSG00000175806	chromatin interactions

Extended variants
information (count: 5824 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:5824 , 50 per page) page: 1 2 3 4 5 6 7 ... 117

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568441986	chr8:9958259-9958260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550699462	chr8:9958267-9958268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188951720	chr8:9958301-9958302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554295451	chr8:9958320-9958321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4840463	chr8:9958321-9958322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs6994687	chr8:9958324-9958325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181094015	chr8:9958337-9958338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572072979	chr8:9958377-9958378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142713597	chr8:9958379-9958380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536136048	chr8:9958441-9958442	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs541708162	chr8:9958445-9958446	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147373689	chr8:9958455-9958456	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555272180	chr8:9958486-9958487	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186623522	chr8:9958496-9958497	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190723295	chr8:9958526-9958527	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148432606	chr8:9958538-9958539	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563750239	chr8:9958567-9958568	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181069994	chr8:9958571-9958572	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543167716	chr8:9958606-9958607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371080645	chr8:9958608-9958609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563081984	chr8:9958613-9958614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187153354	chr8:9958619-9958620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531838254	chr8:9958621-9958622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190869504	chr8:9958636-9958637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555380592	chr8:9958646-9958647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575194958	chr8:9958650-9958651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375382027	chr8:9958652-9958653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376196427	chr8:9958677-9958678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527997074	chr8:9958693-9958694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183372887	chr8:9958700-9958701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187410535	chr8:9958701-9958702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190693451	chr8:9958817-9958818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570778040	chr8:9958852-9958853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544303248	chr8:9958878-9958879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557943243	chr8:9958894-9958895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150562681	chr8:9958899-9958900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182914193	chr8:9958906-9958907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535314537	chr8:9958921-9958922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540502794	chr8:9958936-9958937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374043549	chr8:9958968-9958969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555233154	chr8:9958976-9958977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560735182	chr8:9958994-9958995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570223379	chr8:9958996-9958997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370746209	chr8:9959026-9959027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577599928	chr8:9959038-9959039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143474243	chr8:9959044-9959045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563285176	chr8:9959045-9959046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537633459	chr8:9959050-9959051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146770866	chr8:9959052-9959053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139492804	chr8:9959059-9959060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
Acute myeloid leukemia	21251322	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
Lung squamous cell carcinoma	22363434	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
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:980 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9952000-9959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9956600-9962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:9957000-9965400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:9958000-9959400	Weak transcription	Brain Anterior Caudate	brain
5	chr8:9958000-9963200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:9958000-9963200	Weak transcription	Gastric	stomach
7	chr8:9958400-9958600	Active TSS	Fetal Heart	heart
8	chr8:9958600-9965200	Weak transcription	Fetal Heart	heart
9	chr8:9959400-9959600	ZNF genes & repeats	Brain Anterior Caudate	brain
10	chr8:9959400-9959800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:9959800-9960200	Weak transcription	Brain Anterior Caudate	brain
12	chr8:9959800-9974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:9960400-9960600	Enhancers	Fetal Brain Female	brain
14	chr8:9960600-9962400	Weak transcription	Fetal Brain Female	brain
15	chr8:9961200-9967400	Weak transcription	Primary T cells from cord blood	blood
16	chr8:9961400-9970400	Weak transcription	Pancreas	Pancrea
17	chr8:9961800-9962400	Enhancers	Fetal Brain Male	brain
18	chr8:9962000-9969000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:9962400-9963800	Weak transcription	Fetal Brain Male	brain
20	chr8:9962400-9964000	Enhancers	Fetal Brain Female	brain
21	chr8:9962400-9965800	Weak transcription	Psoas Muscle	Psoas
22	chr8:9962600-9966800	Weak transcription	Spleen	Spleen
23	chr8:9962800-9963000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:9962800-9963400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr8:9962800-9963800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:9963000-9963200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:9963000-9963200	Enhancers	Brain Germinal Matrix	brain
28	chr8:9963000-9963800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:9963000-9963800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:9963000-9963800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr8:9963000-9964200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:9963000-9964400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:9963000-9970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:9963200-9963400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:9963200-9963800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr8:9963200-9963800	Enhancers	Gastric	stomach
37	chr8:9963200-9964000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:9963200-9966200	Weak transcription	Brain Germinal Matrix	brain
39	chr8:9963200-9970400	Weak transcription	Aorta	Aorta
40	chr8:9963400-9963600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr8:9963400-9963800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr8:9963600-9964000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:9963800-9964600	Weak transcription	Gastric	stomach
44	chr8:9963800-9967200	Enhancers	Fetal Brain Male	brain
45	chr8:9964000-9964200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:9964000-9965000	Weak transcription	Fetal Brain Female	brain
47	chr8:9964200-9964400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:9964200-9964600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:9964200-9965400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:9964400-9964600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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