Variant report

Variant	nsv518960
Chromosome Location	chr8:1955283-1959068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1953398..1956111-chr8:1957370..1959528,2	MCF-7	breast:
2	chr8:1947283..1948870-chr8:1955148..1956732,2	MCF-7	breast:
3	chr8:1953398..1956111-chr8:1957370..1959528,2	MCF-7	breast:

Extended variants
information (count: 254 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12677235	chr8:1955283-1955284	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546035383	chr8:1955305-1955306	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs77677814	chr8:1955324-1955325	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs111336487	chr8:1955345-1955346	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs568838061	chr8:1955350-1955351	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs73671509	chr8:1955355-1955356	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs548284430	chr8:1955358-1955359	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs561501915	chr8:1955377-1955378	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs530552837	chr8:1955381-1955382	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs10105508	chr8:1955393-1955394	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs570798255	chr8:1955394-1955395	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs533156547	chr8:1955407-1955408	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs546770298	chr8:1955469-1955470	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs566667775	chr8:1955481-1955482	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs183052794	chr8:1955513-1955514	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs555074594	chr8:1955536-1955537	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs551375263	chr8:1955549-1955550	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs372037016	chr8:1955566-1955567	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs10088130	chr8:1955590-1955591	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7386983	chr8:1955606-1955607	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs187449279	chr8:1955671-1955672	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs554021393	chr8:1955677-1955678	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs546100494	chr8:1955688-1955689	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs145495453	chr8:1955752-1955753	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs567838560	chr8:1955764-1955765	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs147664396	chr8:1955771-1955772	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs541536165	chr8:1955778-1955779	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs549835777	chr8:1955783-1955784	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs561853588	chr8:1955797-1955798	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs539226104	chr8:1955808-1955809	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs367898868	chr8:1955810-1955811	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs571515306	chr8:1955814-1955815	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs530413044	chr8:1955834-1955835	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs544270133	chr8:1955847-1955848	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs140953932	chr8:1955849-1955850	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs373740472	chr8:1955850-1955851	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs556875324	chr8:1955887-1955888	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs150264936	chr8:1955924-1955925	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs192933205	chr8:1955946-1955947	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs544194632	chr8:1955947-1955948	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs546931793	chr8:1955960-1955961	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs566520482	chr8:1955965-1955966	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs529120652	chr8:1955976-1955977	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs548384235	chr8:1956020-1956021	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs568588495	chr8:1956028-1956029	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs537153319	chr8:1956062-1956063	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs377461789	chr8:1956064-1956065	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs556898806	chr8:1956082-1956083	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs138928742	chr8:1956083-1956084	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs539718378	chr8:1956100-1956101	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1949800-1956800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr8:1950000-1955600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:1950600-1957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr8:1950600-1958200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:1951000-1955800	Weak transcription	Colonic Mucosa	Colon
6	chr8:1951400-1955600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1951600-1955400	Weak transcription	Fetal Brain Male	brain
8	chr8:1951600-1958800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:1952200-1956000	Enhancers	Brain Substantia Nigra	brain
10	chr8:1952600-1955800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr8:1953600-1955400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr8:1953600-1956000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:1953800-1955800	Weak transcription	Lung	lung
14	chr8:1954200-1955800	Enhancers	Adipose Nuclei	Adipose
15	chr8:1954200-1957400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:1954200-1957400	Strong transcription	Fetal Intestine Small	intestine
17	chr8:1954400-1956000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:1954400-1956400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:1954400-1957400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:1954400-1958600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:1954400-1960200	Weak transcription	Fetal Thymus	thymus
22	chr8:1954600-1955400	Enhancers	Primary hematopoietic stem cells	blood
23	chr8:1954600-1955600	Strong transcription	Fetal Intestine Large	intestine
24	chr8:1954600-1956400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:1954600-1956600	Strong transcription	Brain Germinal Matrix	brain
26	chr8:1954600-1958600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:1954800-1955400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr8:1954800-1955400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:1954800-1955600	Enhancers	Fetal Lung	lung
30	chr8:1954800-1955800	Enhancers	Liver	Liver
31	chr8:1954800-1955800	Flanking Active TSS	HSMM	muscle
32	chr8:1954800-1956000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:1954800-1956400	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr8:1955000-1955400	Enhancers	Primary B cells from cord blood	blood
35	chr8:1955000-1955400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:1955000-1955400	Bivalent Enhancer	Fetal Stomach	stomach
37	chr8:1955000-1956200	Strong transcription	Fetal Brain Female	brain
38	chr8:1955000-1956600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:1955000-1956800	Genic enhancers	Fetal Muscle Leg	muscle
40	chr8:1955000-1957000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:1955200-1955400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:1955200-1955400	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:1955200-1955400	Flanking Active TSS	HSMMtube	muscle
44	chr8:1955200-1955600	Genic enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:1955200-1955600	Enhancers	Brain Angular Gyrus	brain
46	chr8:1955200-1955600	Strong transcription	Pancreas	Pancrea
47	chr8:1955200-1955600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
48	chr8:1955200-1955800	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr8:1955200-1955800	Genic enhancers	Spleen	Spleen
50	chr8:1955200-1956000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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