Variant report

Variant	nsv982106
Chromosome Location	chr8:86983974-86987379
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86363241..86365174-chr8:86985333..86987257,15	MCF-7	breast:
2	chr8:86879619..86881182-chr8:86983362..86985609,2	K562	blood:
3	chr8:86985364..86986001-chr8:87044916..87045612,2	MCF-7	breast:
4	chr8:86949231..86952070-chr8:86985178..86988129,3	K562	blood:
5	chr8:86848347..86850172-chr8:86983643..86985301,2	MCF-7	breast:
6	chr8:86376809..86377406-chr8:86985363..86985877,2	MCF-7	breast:
7	chr8:86361201..86364121-chr8:86985140..86987760,3	MCF-7	breast:
8	chr8:86367056..86368850-chr8:86985724..86988221,2	MCF-7	breast:
9	chr8:86975301..86977439-chr8:86985291..86986825,2	MCF-7	breast:
10	chr8:86375090..86376062-chr8:86985040..86986834,15	MCF-7	breast:
11	chr8:86365982..86366575-chr8:86985503..86986224,2	MCF-7	breast:
12	chr8:86374904..86377696-chr8:86982744..86984756,2	MCF-7	breast:
13	chr8:86375160..86375701-chr8:86985292..86986203,2	K562	blood:
14	chr8:86363504..86364383-chr8:86986429..86987168,3	MCF-7	breast:
15	chr8:86982282..86983795-chr8:86983943..86985533,2	MCF-7	breast:
16	chr8:86373773..86378088-chr8:86980935..86988141,12	MCF-7	breast:
17	chr8:86363798..86364482-chr8:86983865..86984679,3	MCF-7	breast:
18	chr8:86291082..86291802-chr8:86985256..86986590,4	MCF-7	breast:
19	chr8:86852235..86854715-chr8:86982807..86985769,2	MCF-7	breast:
20	chr8:86375263..86376172-chr8:86985101..86986239,4	MCF-7	breast:
21	chr8:86364193..86367420-chr8:86983302..86985481,3	MCF-7	breast:
22	chr8:86362621..86364573-chr8:86984978..86986328,33	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104267	chromatin interactions
ENSG00000253549	chromatin interactions
ENSG00000133742	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369139349	chr8:86983979-86983980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs572273970	chr8:86983993-86983994	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs16898049	chr8:86984010-86984011	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs558186075	chr8:86984075-86984076	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183169927	chr8:86984093-86984094	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs543792151	chr8:86984095-86984096	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs563706826	chr8:86984096-86984097	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573960710	chr8:86984107-86984108	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187907783	chr8:86984117-86984118	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145601188	chr8:86984126-86984127	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs372530790	chr8:86984135-86984136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192765472	chr8:86984174-86984175	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182554716	chr8:86984193-86984194	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551288009	chr8:86984203-86984204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531986304	chr8:86984227-86984228	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs56957601	chr8:86984253-86984254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567249571	chr8:86984313-86984314	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550530078	chr8:86984384-86984385	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs77639937	chr8:86984395-86984396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs207469493	chr8:86984558-86984559	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535863620	chr8:86984601-86984602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549228314	chr8:86984681-86984682	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187909542	chr8:86984682-86984683	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs535218296	chr8:86984692-86984693	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs138005020	chr8:86984701-86984702	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs578038382	chr8:86984761-86984762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs78698988	chr8:86984793-86984794	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs557512072	chr8:86984833-86984834	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7000427	chr8:86984960-86984961	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs543049877	chr8:86984974-86984975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs16898212	chr8:86985003-86985004	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142531933	chr8:86985034-86985035	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143140517	chr8:86985048-86985049	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs7005397	chr8:86985097-86985098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs530756656	chr8:86985105-86985106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550227469	chr8:86985186-86985187	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs60419136	chr8:86985268-86985269	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs529599762	chr8:86985326-86985327	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs546238993	chr8:86985369-86985370	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs192332892	chr8:86985399-86985400	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs528819078	chr8:86985460-86985461	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs551928285	chr8:86985469-86985470	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112466364	chr8:86985557-86985558	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs571407894	chr8:86985581-86985582	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs538851554	chr8:86985624-86985625	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs34960156	chr8:86985636-86985637	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs537665305	chr8:86985643-86985644	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs34913710	chr8:86985665-86985666	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369918598	chr8:86985667-86985668	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs553975215	chr8:86985682-86985683	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86979000-86985400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86982400-86984800	Weak transcription	Liver	Liver
3	chr8:86983200-86984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:86983200-86984200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:86983200-86984400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:86983200-86984800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:86983400-86984400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:86983400-86984400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:86983400-86985800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:86983600-86988800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:86983800-86985600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:86983800-86986400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:86983800-86991200	Enhancers	Brain Hippocampus Middle	brain
14	chr8:86984000-86984200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:86984000-86985200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:86984200-86984400	Enhancers	Brain Anterior Caudate	brain
17	chr8:86984200-86984400	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:86984200-86985800	Enhancers	Brain Substantia Nigra	brain
19	chr8:86984200-87000000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:86984400-86984800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:86984400-86985400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:86984400-86985400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:86984400-86985600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr8:86984400-86986800	Weak transcription	Brain Anterior Caudate	brain
25	chr8:86984800-86985200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:86984800-86985200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:86984800-86985800	Enhancers	Liver	Liver
28	chr8:86984800-86985800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:86984800-86989400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:86985000-86985600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr8:86985200-86985600	Enhancers	Brain Angular Gyrus	brain
32	chr8:86985200-86986800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:86985200-86989400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:86985400-86985600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:86985400-86985800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:86985400-86985800	Enhancers	Brain Cingulate Gyrus	brain
37	chr8:86985400-86985800	Enhancers	Fetal Intestine Large	intestine
38	chr8:86985400-86985800	Enhancers	Stomach Mucosa	stomach
39	chr8:86985400-86985800	Enhancers	K562	blood
40	chr8:86985400-86987000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:86985400-86988600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr8:86985600-86985800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:86985600-86985800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:86985600-86985800	Enhancers	Fetal Kidney	kidney
45	chr8:86985600-86985800	Enhancers	Fetal Lung	lung
46	chr8:86985600-86986000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr8:86985600-86986800	Weak transcription	Brain Angular Gyrus	brain
48	chr8:86985600-86986800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr8:86985600-86987000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:86985600-86987400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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