Variant report

Variant	esv3338719
Chromosome Location	chr10:589222-589502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:586974..589540-chr10:590949..592732,2	K562	blood:
2	chr10:589190..591988-chr10:602233..604449,2	K562	blood:
3	chr10:582102..583966-chr10:587212..590042,3	K562	blood:
4	chr10:585109..589667-chr10:591108..594165,5	MCF-7	breast:
5	chr10:588040..589570-chr10:591232..593419,2	K562	blood:
6	chr10:585455..588115-chr10:589415..592524,3	MCF-7	breast:
7	chr10:588433..590625-chr10:591503..594544,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12252141	chr10:589228-589229	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576495064	chr10:589258-589259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561089282	chr10:589265-589266	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555844785	chr10:589283-589284	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150196484	chr10:589305-589306	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35584375	chr10:589345-589346	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540541986	chr10:589356-589357	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376338993	chr10:589357-589358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138691610	chr10:589365-589366	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189047211	chr10:589376-589377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74683704	chr10:589404-589405	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191941272	chr10:589411-589412	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142689986	chr10:589451-589452	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371132437	chr10:589452-589453	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146025862	chr10:589479-589480	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:582600-592600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr10:583200-592600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:583200-593000	Weak transcription	NH-A	brain
4	chr10:583200-604800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr10:586000-593000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr10:587200-590200	Enhancers	Brain Germinal Matrix	brain
7	chr10:587200-590200	Enhancers	Esophagus	oesophagus
8	chr10:587400-589600	Enhancers	Ovary	ovary
9	chr10:587400-590200	Enhancers	Left Ventricle	heart
10	chr10:587600-590200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr10:587600-590200	Enhancers	Brain Substantia Nigra	brain
12	chr10:587600-590600	Enhancers	Fetal Brain Male	brain
13	chr10:587800-590000	Enhancers	Fetal Muscle Leg	muscle
14	chr10:588000-590200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr10:588200-589400	Enhancers	Fetal Stomach	stomach
16	chr10:588200-590000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:588200-590400	Enhancers	Brain Hippocampus Middle	brain
18	chr10:588200-591200	Weak transcription	Placenta	Placenta
19	chr10:588200-592400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr10:588200-592400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr10:588200-593000	Weak transcription	Spleen	Spleen
22	chr10:588400-589800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:588400-589800	Weak transcription	Gastric	stomach
24	chr10:588400-590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:588400-590000	Weak transcription	Pancreas	Pancrea
26	chr10:588400-590600	Enhancers	Fetal Brain Female	brain
27	chr10:588400-592200	Weak transcription	Fetal Intestine Large	intestine
28	chr10:588400-592400	Weak transcription	Stomach Mucosa	stomach
29	chr10:588400-593000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:588400-593200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:588400-593200	Weak transcription	Adipose Nuclei	Adipose
32	chr10:588400-595200	Weak transcription	Psoas Muscle	Psoas
33	chr10:588600-590000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:588600-592400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr10:588600-593000	Weak transcription	Aorta	Aorta
36	chr10:588600-593000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr10:588600-593000	Weak transcription	Lung	lung
38	chr10:588800-590200	Strong transcription	Fetal Intestine Small	intestine
39	chr10:588800-590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:588800-592400	Weak transcription	Fetal Lung	lung
41	chr10:588800-593000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:588800-593000	Weak transcription	Colon Smooth Muscle	Colon
43	chr10:588800-593000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr10:589000-590200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr10:589000-590200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:589000-592400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr10:589200-589400	Enhancers	Brain Angular Gyrus	brain
48	chr10:589200-589400	Enhancers	Brain Anterior Caudate	brain
49	chr10:589200-589400	Enhancers	Brain Cingulate Gyrus	brain
50	chr10:589200-589400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links