Variant report

Variant	nsv890344
Chromosome Location	chr8:9995515-10060638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9910777..9912807-chr8:10008037..10009823,2	MCF-7	breast:
2	chr8:9911097..9912602-chr8:10046216..10048538,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175806	chromatin interactions
ENSG00000260093	chromatin interactions

Extended variants
information (count: 3791 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:3791 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12547884	chr8:9995515-9995516	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143564371	chr8:9995548-9995549	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189079184	chr8:9995574-9995575	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs561560770	chr8:9995578-9995579	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs530474014	chr8:9995592-9995593	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs373314357	chr8:9995600-9995601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs546985978	chr8:9995609-9995610	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566822479	chr8:9995618-9995619	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs538676698	chr8:9995621-9995622	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs533407435	chr8:9995624-9995625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148048798	chr8:9995632-9995633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141781027	chr8:9995633-9995634	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376314693	chr8:9995677-9995678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150178574	chr8:9995679-9995680	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554388671	chr8:9995682-9995683	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139012362	chr8:9995708-9995709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534053781	chr8:9995714-9995715	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553797955	chr8:9995738-9995739	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143034859	chr8:9995744-9995745	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368127164	chr8:9995749-9995750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562558643	chr8:9995762-9995763	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs181062252	chr8:9995776-9995777	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561423205	chr8:9995800-9995801	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs530244394	chr8:9995845-9995846	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs17151188	chr8:9995853-9995854	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376452421	chr8:9995854-9995855	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs560647510	chr8:9995860-9995861	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs532519215	chr8:9995869-9995870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552192341	chr8:9995883-9995884	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs569006468	chr8:9995888-9995889	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537901491	chr8:9995929-9995930	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs374364060	chr8:9995942-9995943	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548287534	chr8:9995945-9995946	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568214035	chr8:9995995-9995996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544722753	chr8:9996009-9996010	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs533769273	chr8:9996010-9996011	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558267158	chr8:9996021-9996022	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571788485	chr8:9996035-9996036	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs554012944	chr8:9996052-9996053	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs184882077	chr8:9996071-9996072	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs573965055	chr8:9996081-9996082	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147474072	chr8:9996129-9996130	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs560917607	chr8:9996155-9996156	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189306920	chr8:9996181-9996182	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs541911130	chr8:9996185-9996186	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs114857339	chr8:9996234-9996235	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574952008	chr8:9996270-9996271	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540502534	chr8:9996287-9996288	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs112847068	chr8:9996337-9996338	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140002316	chr8:9996338-9996339	Weak transcription Enhancers Active TSS Flanking Active TSS	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:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr8:9987200-9995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:9988800-9996200	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:9988800-10002200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:9989000-10000400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:9991200-9997600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:9991200-10004600	Weak transcription	Esophagus	oesophagus
9	chr8:9991600-9996000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:9991800-9995800	Enhancers	Fetal Brain Female	brain
11	chr8:9992000-9997400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:9992200-9995800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:9992200-9995800	Weak transcription	Left Ventricle	heart
14	chr8:9992200-9995800	Weak transcription	Lung	lung
15	chr8:9992200-9995800	Weak transcription	Right Atrium	heart
16	chr8:9992200-10004800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:9992200-10004800	Weak transcription	Right Ventricle	heart
18	chr8:9992400-10000600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:9992600-9995800	Weak transcription	Brain Anterior Caudate	brain
20	chr8:9992600-9995800	Weak transcription	Fetal Heart	heart
21	chr8:9992600-9996200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:9992600-10000600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:9992800-9995800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:9993000-9995600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:9994800-9995800	Enhancers	Liver	Liver
26	chr8:9995000-9996400	Enhancers	Small Intestine	intestine
27	chr8:9995000-9996600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:9995000-9996800	Enhancers	Fetal Intestine Large	intestine
29	chr8:9995000-9998600	Enhancers	Adipose Nuclei	Adipose
30	chr8:9995000-10000600	Enhancers	Fetal Brain Male	brain
31	chr8:9995200-9995800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:9995200-9996600	Enhancers	Brain Angular Gyrus	brain
33	chr8:9995200-9996800	Enhancers	Brain Germinal Matrix	brain
34	chr8:9995200-9997800	Enhancers	Fetal Intestine Small	intestine
35	chr8:9995400-9996000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:9995400-9996600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:9995400-9996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr8:9995400-9996600	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:9995400-9996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:9995400-9996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:9995600-9996000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:9995600-9996600	Enhancers	Duodenum Mucosa	Duodenum
43	chr8:9995600-9996600	Enhancers	Ovary	ovary
44	chr8:9995600-9996800	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr8:9995800-9996200	Enhancers	HepG2	liver
46	chr8:9995800-9996400	Enhancers	Lung	lung
47	chr8:9995800-9996400	Enhancers	Pancreas	Pancrea
48	chr8:9995800-9996400	Enhancers	Stomach Mucosa	stomach
49	chr8:9995800-9996600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:9995800-9996600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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