Variant report

Variant	esv3362999
Chromosome Location	chr10:523363-523613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372681951	chr10:523371-523372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533618045	chr10:523375-523376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564943445	chr10:523376-523377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371518421	chr10:523397-523398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187785943	chr10:523404-523405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531090021	chr10:523431-523432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193136152	chr10:523484-523485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551291003	chr10:523501-523502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570335335	chr10:523504-523505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184888070	chr10:523508-523509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373639413	chr10:523517-523518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367805425	chr10:523518-523519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372621166	chr10:523519-523520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189264491	chr10:523523-523524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375681952	chr10:523547-523548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561290170	chr10:523552-523553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367831999	chr10:523554-523555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202086739	chr10:523570-523571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546641762	chr10:523579-523580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566632703	chr10:523582-523583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181457382	chr10:523593-523594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552283702	chr10:523609-523610	Weak transcription Enhancers	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:497800-530400	Weak transcription	Stomach Mucosa	stomach
2	chr10:501200-529200	Weak transcription	NHDF-Ad	bronchial
3	chr10:501400-530200	Weak transcription	A549	lung
4	chr10:504600-526400	Weak transcription	Right Atrium	heart
5	chr10:505200-526600	Weak transcription	Fetal Heart	heart
6	chr10:506000-524200	Weak transcription	HSMM	muscle
7	chr10:513000-531400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr10:514400-524600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:514600-530400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:515400-530400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:516400-526600	Weak transcription	Fetal Brain Male	brain
12	chr10:517000-524400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr10:517000-528800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:517000-530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:517000-530400	Weak transcription	NH-A	brain
16	chr10:517000-530600	Weak transcription	Fetal Lung	lung
17	chr10:517000-536800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr10:517200-526800	Weak transcription	Psoas Muscle	Psoas
19	chr10:517200-530000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr10:517200-530400	Weak transcription	Colonic Mucosa	Colon
21	chr10:517200-531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr10:517400-524400	Weak transcription	Lung	lung
23	chr10:517400-525800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:517400-526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:517400-526800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:517400-529000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr10:517400-530400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr10:517400-530600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr10:517600-524800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:517600-526400	Weak transcription	Brain Substantia Nigra	brain
31	chr10:517600-530000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:517600-530400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:517800-530200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:517800-530400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr10:517800-530400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:518000-524600	Weak transcription	Colon Smooth Muscle	Colon
37	chr10:518000-527000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr10:518200-529800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:518400-524600	Weak transcription	Left Ventricle	heart
40	chr10:518400-524600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr10:518600-524600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:518600-526800	Weak transcription	Gastric	stomach
43	chr10:518600-527000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:518600-530400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:518800-524600	Weak transcription	Right Ventricle	heart
46	chr10:518800-530200	Weak transcription	Liver	Liver
47	chr10:518800-530400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr10:519000-524400	Weak transcription	Brain Angular Gyrus	brain
49	chr10:519000-527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:519000-527800	Weak transcription	Aorta	Aorta

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