Variant report

Variant	nsv981944
Chromosome Location	chr8:59494327-59495538
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:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59465818..59467351-chr8:59492193..59494904,2	MCF-7	breast:
2	chr8:59470291..59472157-chr8:59493284..59495142,2	K562	blood:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SDCBP	hsa-miR-155-5p	chr8:59494793-59494814
2	SDCBP	hsa-miR-103a-3p	chr8:59494922-59494944
3	SDCBP	hsa-miR-103a-3p	chr8:59494399-59494406
4	SDCBP	hsa-miR-155-5p	chr8:59494890-59494914
5	SDCBP	hsa-miR-103a-3p	chr8:59494382-59494406
6	SDCBP	hsa-miR-155-5p	chr8:59494807-59494814

Variant related genes	Relation type
ENSG00000137575	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371949686	chr8:59494327-59494328	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563050111	chr8:59494328-59494329	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs137927039	chr8:59494330-59494331	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201667562	chr8:59494340-59494341	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1803072	chr8:59494357-59494358	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373695046	chr8:59494370-59494371	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181823693	chr8:59494383-59494384	Strong transcription Weak transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
8	rs1803071	chr8:59494415-59494416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547354370	chr8:59494421-59494422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570780186	chr8:59494427-59494428	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2997	chr8:59494476-59494477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539674908	chr8:59494544-59494545	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11550278	chr8:59494554-59494555	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368807103	chr8:59494555-59494556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569977497	chr8:59494569-59494570	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548637514	chr8:59494617-59494618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187436234	chr8:59494635-59494636	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555626507	chr8:59494648-59494649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565762692	chr8:59494653-59494654	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534721260	chr8:59494704-59494705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs3739326	chr8:59494712-59494713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577568381	chr8:59494729-59494730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546434818	chr8:59494736-59494737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs202058764	chr8:59494738-59494739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556569919	chr8:59494749-59494750	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375487262	chr8:59494754-59494755	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373068871	chr8:59494769-59494770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117089964	chr8:59494819-59494820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs542004174	chr8:59494820-59494821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs142419216	chr8:59494862-59494863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527753119	chr8:59494886-59494887	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117485213	chr8:59494890-59494891	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
33	rs190601179	chr8:59494985-59494986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144694795	chr8:59494993-59494994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550197473	chr8:59495069-59495070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182846496	chr8:59495075-59495076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34213860	chr8:59495097-59495098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529235568	chr8:59495102-59495103	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375546473	chr8:59495137-59495138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556904207	chr8:59495139-59495140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375338364	chr8:59495202-59495203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148339226	chr8:59495223-59495224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565902159	chr8:59495232-59495233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556672357	chr8:59495347-59495348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1044304	chr8:59495357-59495358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534657293	chr8:59495395-59495396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186116974	chr8:59495428-59495429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150195412	chr8:59495444-59495445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571359407	chr8:59495468-59495469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116513437	chr8:59495469-59495470	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:153 , 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	chr8:59473000-59497400	Weak transcription	Stomach Mucosa	stomach
4	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:59473400-59495400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:59474000-59497000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:59476600-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:59476800-59495400	Weak transcription	Pancreas	Pancrea
10	chr8:59476800-59500600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:59477200-59503000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:59477200-59503400	Strong transcription	NHDF-Ad	bronchial
14	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:59477600-59496800	Strong transcription	Placenta	Placenta
16	chr8:59477600-59500600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:59477600-59503600	Strong transcription	Osteobl	bone
18	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:59478000-59497000	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr8:59478000-59500400	Strong transcription	NH-A	brain
22	chr8:59478000-59500800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:59478000-59502800	Strong transcription	Fetal Thymus	thymus
24	chr8:59478000-59503000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr8:59478000-59503200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
30	chr8:59479000-59503800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr8:59479200-59499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:59479200-59505600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:59479600-59500600	Strong transcription	HUVEC	blood vessel
34	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr8:59480400-59503000	Strong transcription	Adipose Nuclei	Adipose
36	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:59481200-59498000	Weak transcription	Brain Substantia Nigra	brain
38	chr8:59481400-59502000	Weak transcription	Fetal Brain Male	brain
39	chr8:59483000-59504400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr8:59483400-59501000	Strong transcription	Primary B cells from cord blood	blood
42	chr8:59483800-59500600	Strong transcription	Liver	Liver
43	chr8:59483800-59500600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:59483800-59504400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:59483800-59528000	Strong transcription	Dnd41	blood
46	chr8:59484000-59496800	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:59484000-59505600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:59484400-59503200	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:59484400-59503800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:59484600-59494400	Strong transcription	HSMM	muscle

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