Variant report

Variant	esv3337484
Chromosome Location	chr8:9991119-9991711
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:
2	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
3	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568728768	chr8:9991124-9991125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553707255	chr8:9991128-9991129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34143323	chr8:9991135-9991136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140121242	chr8:9991147-9991148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150319073	chr8:9991188-9991189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs137990648	chr8:9991223-9991224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142530324	chr8:9991239-9991240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146001134	chr8:9991258-9991259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557373566	chr8:9991259-9991260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574293542	chr8:9991309-9991310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540093459	chr8:9991321-9991322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560033895	chr8:9991334-9991335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531986091	chr8:9991337-9991338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11785454	chr8:9991353-9991354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190768875	chr8:9991363-9991364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531475730	chr8:9991371-9991372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372350691	chr8:9991372-9991373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138734100	chr8:9991379-9991380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141842164	chr8:9991380-9991381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146286949	chr8:9991389-9991390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562629034	chr8:9991390-9991391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374370110	chr8:9991395-9991396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148502825	chr8:9991410-9991411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368301492	chr8:9991484-9991485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538640555	chr8:9991485-9991486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558949739	chr8:9991488-9991489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531301638	chr8:9991491-9991492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537899445	chr8:9991498-9991499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554651878	chr8:9991500-9991501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574257024	chr8:9991514-9991515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540061690	chr8:9991554-9991555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539907668	chr8:9991562-9991563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553630621	chr8:9991592-9991593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577105531	chr8:9991634-9991635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142830383	chr8:9991637-9991638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545475982	chr8:9991650-9991651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3885723	chr8:9991661-9991662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs150632893	chr8:9991688-9991689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564694957	chr8:9991696-9991697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541907421	chr8:9991704-9991705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561786818	chr8:9991711-9991712	Weak transcription Enhancers	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea
2	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:9987200-9992000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:9987200-9995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:9988800-9991800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:9988800-9991800	Weak transcription	Fetal Brain Female	brain
7	chr8:9988800-9992000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:9988800-9996200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:9988800-10002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:9989000-9991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:9989000-9992400	Weak transcription	Brain Substantia Nigra	brain
12	chr8:9989000-9995000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:9989000-9995200	Weak transcription	Brain Angular Gyrus	brain
14	chr8:9989000-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:9990000-9991800	Weak transcription	Fetal Intestine Small	intestine
16	chr8:9990000-9992800	Enhancers	Liver	Liver
17	chr8:9990200-9991800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:9990200-9992000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:9990400-9991200	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:9990600-9991200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr8:9990600-9992000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:9990800-9991200	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:9990800-9991200	Enhancers	Esophagus	oesophagus
24	chr8:9990800-9991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:9990800-9992200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:9990800-9992200	Enhancers	HUVEC	blood vessel
27	chr8:9991000-9991200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr8:9991000-9991200	Enhancers	Fetal Brain Male	brain
29	chr8:9991000-9991400	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr8:9991000-9991600	Weak transcription	Lung	lung
31	chr8:9991000-9992800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:9991200-9991600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:9991200-9991600	Weak transcription	Fetal Brain Male	brain
34	chr8:9991200-9997600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:9991200-10004600	Weak transcription	Esophagus	oesophagus
36	chr8:9991400-9991800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:9991600-9991800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:9991600-9991800	Enhancers	Fetal Heart	heart
39	chr8:9991600-9992200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:9991600-9992200	Enhancers	Fetal Brain Male	brain
41	chr8:9991600-9992200	Enhancers	Lung	lung
42	chr8:9991600-9996000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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