Variant report

Variant	nsv971313
Chromosome Location	chr8:59499735-59501964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr8:59501795-59502038	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:59499706-59499821	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:59484262-59500778	K562	blood:	n/a	n/a
4	POLR2A	chr8:59499674-59499741	K562	blood:	n/a	n/a
5	POLR2A	chr8:59500076-59500093	GM12878	blood:	n/a	n/a
6	ZNF263	chr8:59500188-59500611	HEK293-T-REx	kidney:	n/a	chr8:59500389-59500410

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59488834..59491780-chr8:59497292..59499842,2	MCF-7	breast:
2	chr8:59501580..59503825-chr8:59505050..59507030,2	K562	blood:

Variant related genes	Relation type
NSMAF	TF binding region
ENSG00000242970	TF binding region
ENSG00000137575	chromatin interactions
ENSG00000035681	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549948608	chr8:59499737-59499738	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143043635	chr8:59499763-59499764	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564006165	chr8:59499803-59499804	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560084878	chr8:59499810-59499811	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs541892876	chr8:59499901-59499902	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150850146	chr8:59499922-59499923	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530450132	chr8:59499936-59499937	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs931396	chr8:59500007-59500008	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs139321192	chr8:59500031-59500032	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs560539819	chr8:59500103-59500104	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532594387	chr8:59500115-59500116	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552402313	chr8:59500117-59500118	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs527592722	chr8:59500123-59500124	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs149714345	chr8:59500133-59500134	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534767215	chr8:59500156-59500157	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375018480	chr8:59500169-59500170	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs548206930	chr8:59500197-59500198	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371665233	chr8:59500250-59500251	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200276442	chr8:59500260-59500261	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs376693336	chr8:59500297-59500298	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs553904488	chr8:59500301-59500302	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190312370	chr8:59500316-59500317	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs144527895	chr8:59500336-59500337	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs555982094	chr8:59500371-59500372	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs576231280	chr8:59500460-59500461	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs182869083	chr8:59500602-59500603	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139325712	chr8:59500695-59500696	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs144123853	chr8:59500719-59500720	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs540570209	chr8:59500755-59500756	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369027887	chr8:59500787-59500788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549660724	chr8:59500800-59500801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532591005	chr8:59500804-59500805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371352517	chr8:59500834-59500835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562622979	chr8:59500845-59500846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375506289	chr8:59500868-59500869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531726735	chr8:59500869-59500870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60214509	chr8:59500894-59500895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548144694	chr8:59500905-59500906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11774558	chr8:59500926-59500927	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs200114835	chr8:59500998-59500999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188531830	chr8:59501017-59501018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11785141	chr8:59501025-59501026	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571046109	chr8:59501041-59501042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547365738	chr8:59501122-59501123	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570771131	chr8:59501131-59501132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200523234	chr8:59501137-59501138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7006797	chr8:59501147-59501148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569731275	chr8:59501170-59501171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200863030	chr8:59501182-59501183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555353019	chr8:59501183-59501184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:59476800-59500600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:59477200-59503000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:59477200-59503400	Strong transcription	NHDF-Ad	bronchial
10	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:59477600-59500600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:59477600-59503600	Strong transcription	Osteobl	bone
13	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:59478000-59500400	Strong transcription	NH-A	brain
16	chr8:59478000-59500800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:59478000-59502800	Strong transcription	Fetal Thymus	thymus
18	chr8:59478000-59503000	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr8:59478000-59503200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
24	chr8:59479000-59503800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr8:59479200-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:59479600-59500600	Strong transcription	HUVEC	blood vessel
27	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr8:59480400-59503000	Strong transcription	Adipose Nuclei	Adipose
29	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:59481400-59502000	Weak transcription	Fetal Brain Male	brain
31	chr8:59483000-59504400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr8:59483400-59501000	Strong transcription	Primary B cells from cord blood	blood
34	chr8:59483800-59500600	Strong transcription	Liver	Liver
35	chr8:59483800-59500600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:59483800-59504400	Strong transcription	Duodenum Mucosa	Duodenum
37	chr8:59483800-59528000	Strong transcription	Dnd41	blood
38	chr8:59484000-59505600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:59484400-59503200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:59484400-59503800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:59484800-59502600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:59484800-59503200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:59484800-59505600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:59485200-59500400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:59485400-59501600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:59485600-59500400	Strong transcription	Fetal Brain Female	brain
47	chr8:59485800-59500000	Strong transcription	A549	lung
48	chr8:59487400-59500600	Strong transcription	Left Ventricle	heart
49	chr8:59487400-59500800	Strong transcription	Hela-S3	cervix
50	chr8:59487600-59500600	Strong transcription	Primary T cells from cord blood	blood

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