Variant report

Variant	esv1797711
Chromosome Location	chr8:9456376-9462653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9454898..9456532-chr8:9457178..9459757,2	K562	blood:
2	chr8:9454898..9456532-chr8:9457178..9459757,2	K562	blood:
3	chr8:9453884..9455961-chr8:9458927..9460754,2	MCF-7	breast:
4	chr8:9450877..9453725-chr8:9457625..9461148,3	K562	blood:

Extended variants
information (count: 339 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111956288	chr8:9456380-9456381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552051301	chr8:9456388-9456389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150417965	chr8:9456389-9456390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576796602	chr8:9456404-9456405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545759046	chr8:9456526-9456527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13265248	chr8:9456654-9456655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35799466	chr8:9456659-9456660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544936876	chr8:9456731-9456732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562646319	chr8:9456774-9456775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138156002	chr8:9456815-9456816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570880018	chr8:9456839-9456840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs193041079	chr8:9456846-9456847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62493910	chr8:9456863-9456864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs55729276	chr8:9456884-9456885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185202799	chr8:9456956-9456957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566922868	chr8:9456967-9456968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372591980	chr8:9456984-9456985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538678681	chr8:9456990-9456991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552497637	chr8:9456998-9456999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188358261	chr8:9457026-9457027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146039421	chr8:9457053-9457054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367621312	chr8:9457099-9457100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75404858	chr8:9457106-9457107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574719405	chr8:9457118-9457119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534384826	chr8:9457124-9457125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553598561	chr8:9457190-9457191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576828019	chr8:9457213-9457214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545494015	chr8:9457244-9457245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141714123	chr8:9457259-9457260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367993766	chr8:9457269-9457270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562546250	chr8:9457270-9457271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35076714	chr8:9457302-9457303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397891164	chr8:9457312-9457313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4493905	chr8:9457337-9457338	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs4372006	chr8:9457345-9457346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138752003	chr8:9457354-9457355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181328288	chr8:9457375-9457376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527499423	chr8:9457379-9457380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114191429	chr8:9457380-9457381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560385276	chr8:9457392-9457393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115296010	chr8:9457428-9457429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11997025	chr8:9457440-9457441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568955403	chr8:9457448-9457449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537825756	chr8:9457475-9457476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548501927	chr8:9457509-9457510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371949962	chr8:9457516-9457517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568377215	chr8:9457550-9457551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58944302	chr8:9457588-9457589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183580368	chr8:9457607-9457608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112854378	chr8:9457634-9457635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

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
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
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
Bladder cancer	21909424	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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:9433600-9461000	Weak transcription	Fetal Stomach	stomach
4	chr8:9434800-9459000	Weak transcription	Primary B cells from cord blood	blood
5	chr8:9435400-9465600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:9435400-9468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:9435600-9457600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:9435600-9472400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:9435800-9459400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9435800-9465400	Weak transcription	Lung	lung
11	chr8:9435800-9465600	Weak transcription	Pancreas	Pancrea
12	chr8:9435800-9472600	Weak transcription	HSMMtube	muscle
13	chr8:9437400-9468000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:9439400-9472400	Weak transcription	HSMM	muscle
15	chr8:9439600-9465600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:9440600-9465600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:9441200-9460600	Weak transcription	Fetal Intestine Large	intestine
18	chr8:9442600-9465400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:9445400-9459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:9447600-9465400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:9447800-9457600	Weak transcription	Right Atrium	heart
22	chr8:9448000-9459600	Weak transcription	Fetal Intestine Small	intestine
23	chr8:9449000-9460000	Weak transcription	Spleen	Spleen
24	chr8:9449200-9456800	Weak transcription	Right Ventricle	heart
25	chr8:9449200-9465600	Weak transcription	Ovary	ovary
26	chr8:9450200-9465600	Weak transcription	NHDF-Ad	bronchial
27	chr8:9450200-9470600	Weak transcription	NHLF	lung
28	chr8:9450200-9472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:9450600-9461000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:9450600-9469600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr8:9450600-9480200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:9450800-9456400	Weak transcription	Small Intestine	intestine
33	chr8:9450800-9458200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:9450800-9459600	Weak transcription	Dnd41	blood
35	chr8:9450800-9462600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:9450800-9462800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:9450800-9464400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:9450800-9465400	Weak transcription	Left Ventricle	heart
39	chr8:9450800-9468400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:9450800-9471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:9451000-9459400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:9451000-9460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:9451200-9456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:9451200-9458800	Weak transcription	Primary T cells from cord blood	blood
45	chr8:9451200-9461800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:9453400-9465400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:9454200-9456600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr8:9454600-9457200	Weak transcription	Brain Substantia Nigra	brain
49	chr8:9454600-9465600	Weak transcription	Psoas Muscle	Psoas
50	chr8:9454800-9466000	Weak transcription	Brain Angular Gyrus	brain

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