Variant report

Variant	esv3393134
Chromosome Location	chr10:5950199-5950468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5946370..5949809-chr10:5950035..5953033,4	K562	blood:
2	chr10:5950213..5953065-chr10:6017303..6019683,2	MCF-7	breast:
3	chr10:5940356..5945616-chr10:5946052..5950228,5	K562	blood:
4	chr10:5928731..5931390-chr10:5949628..5953556,4	K562	blood:

Variant related genes	Relation type
ENSG00000134461	chromatin interactions
ENSG00000134470	chromatin interactions
ENSG00000134452	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76960303	chr10:5950208-5950209	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs626344	chr10:5950235-5950236	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs116502447	chr10:5950237-5950238	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183566763	chr10:5950248-5950249	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530265910	chr10:5950265-5950266	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548382686	chr10:5950286-5950287	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs569778771	chr10:5950293-5950294	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs537171825	chr10:5950331-5950332	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs530348231	chr10:5950419-5950420	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs552282107	chr10:5950426-5950427	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs146511045	chr10:5950439-5950440	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs571781394	chr10:5950450-5950451	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141085096	chr10:5950453-5950454	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Ovarian cancer	22355333	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5933200-5977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:5933600-5951600	Weak transcription	Stomach Mucosa	stomach
3	chr10:5935600-5962000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr10:5936600-5952600	Weak transcription	Hela-S3	cervix
5	chr10:5936800-5953200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr10:5938000-5950800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr10:5938200-5950800	Weak transcription	NH-A	brain
8	chr10:5939400-5950800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr10:5941000-5950800	Weak transcription	Gastric	stomach
10	chr10:5944000-5981600	Strong transcription	Fetal Intestine Small	intestine
11	chr10:5944400-5952000	Strong transcription	K562	blood
12	chr10:5944400-5955000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:5944600-5952800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr10:5944600-5981200	Strong transcription	Fetal Thymus	thymus
15	chr10:5945000-5953800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:5945800-5980800	Strong transcription	Thymus	Thymus
17	chr10:5946600-5950800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr10:5947000-5980800	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr10:5947000-5981600	Strong transcription	Placenta	Placenta
20	chr10:5947200-5981000	Strong transcription	Fetal Intestine Large	intestine
21	chr10:5947400-5970800	Strong transcription	Liver	Liver
22	chr10:5947400-5974400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr10:5947400-5981200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr10:5947600-5968400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:5947600-5968600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:5947600-5968600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:5947600-5975000	Strong transcription	Primary T cells from cord blood	blood
28	chr10:5947600-5981000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:5947600-5981000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:5947600-5981000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr10:5947600-5981000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:5947600-5981200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr10:5947800-5950600	Weak transcription	Small Intestine	intestine
34	chr10:5947800-5961000	Strong transcription	Fetal Brain Female	brain
35	chr10:5947800-5974000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr10:5947800-5974400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr10:5947800-5974600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr10:5948000-5950200	Genic enhancers	NHEK	skin
39	chr10:5948000-5950600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:5948000-5955800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:5948000-5960200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr10:5948000-5974600	Strong transcription	Fetal Lung	lung
43	chr10:5948000-5974800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:5948000-5975000	Strong transcription	Primary B cells from cord blood	blood
45	chr10:5948000-5975800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:5948200-5951000	Weak transcription	HUVEC	blood vessel
47	chr10:5948200-5974000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr10:5948200-5974800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr10:5948400-5950600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:5948400-5952000	Strong transcription	Fetal Stomach	stomach

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