Variant report

Variant	esv1374087
Chromosome Location	chr10:694300-694705
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	CTCF	chr10:694301-694378	GM19239	blood:	n/a	n/a
2	NR3C1	chr10:692818-695316	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:692996..695820-chr10:700101..701896,2	MCF-7	breast:
2	chr10:692009..694331-chr10:706518..708449,2	MCF-7	breast:

Variant related genes	Relation type
PRR26	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543380858	chr10:694300-694301	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs563379634	chr10:694314-694315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs531613297	chr10:694321-694322	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs541807547	chr10:694334-694335	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561912703	chr10:694353-694354	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs374123656	chr10:694359-694360	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs71489261	chr10:694369-694370	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs71489262	chr10:694372-694373	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs71489263	chr10:694378-694379	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs71489264	chr10:694390-694391	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs375435229	chr10:694392-694393	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs180894705	chr10:694403-694404	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs147891298	chr10:694404-694405	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs71489265	chr10:694407-694408	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs71489266	chr10:694416-694417	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549787753	chr10:694429-694430	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200415194	chr10:694442-694443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs71489267	chr10:694444-694445	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs71489268	chr10:694449-694450	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs71489269	chr10:694468-694469	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11253298	chr10:694469-694470	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs71489270	chr10:694480-694481	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs373354464	chr10:694494-694495	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566369409	chr10:694507-694508	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs377526471	chr10:694510-694511	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557947971	chr10:694512-694513	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs71489271	chr10:694534-694535	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs150393679	chr10:694538-694539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs71489272	chr10:694539-694540	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs557323153	chr10:694591-694592	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs573992373	chr10:694594-694595	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs543018279	chr10:694596-694597	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs561787351	chr10:694602-694603	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs572326808	chr10:694629-694630	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541192306	chr10:694654-694655	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs564306828	chr10:694656-694657	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs115961600	chr10:694659-694660	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370103417	chr10:694660-694661	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs563283806	chr10:694674-694675	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528839576	chr10:694681-694682	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs10904534	chr10:694687-694688	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs566212761	chr10:694704-694705	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs535021904	chr10:694705-694706	Weak transcription Enhancers	TF binding region	1 gene(s)	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:672000-700000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:672600-695800	Weak transcription	NHLF	lung
3	chr10:681800-696200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:683000-696000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:684200-700000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:685600-699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:685800-695200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr10:686200-696200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:687400-700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:687600-695200	Weak transcription	Right Ventricle	heart
11	chr10:688800-694400	Weak transcription	Gastric	stomach
12	chr10:688800-698200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:688800-702600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:689200-696000	Weak transcription	Psoas Muscle	Psoas
15	chr10:691200-695600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr10:691200-704200	Weak transcription	HSMM	muscle
17	chr10:691200-704800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:691400-694800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:691400-695000	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:691400-695200	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:691400-695200	Weak transcription	Fetal Lung	lung
22	chr10:691400-695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:691400-695800	Weak transcription	Brain Angular Gyrus	brain
24	chr10:691400-695800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr10:691400-695800	Weak transcription	Left Ventricle	heart
26	chr10:691400-704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:691600-695600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:691600-695600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:691800-695200	Weak transcription	Brain Substantia Nigra	brain
30	chr10:692000-695400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr10:692400-695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:692400-695200	Weak transcription	Fetal Intestine Small	intestine
33	chr10:692400-695800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr10:692600-695600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr10:692800-695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:693000-695600	Weak transcription	Fetal Brain Male	brain
37	chr10:693400-696000	Enhancers	Pancreas	Pancrea
38	chr10:694200-694600	Enhancers	Esophagus	oesophagus
39	chr10:694400-694600	Enhancers	Gastric	stomach
40	chr10:694400-694600	Enhancers	Spleen	Spleen
41	chr10:694600-696000	Weak transcription	Gastric	stomach
42	chr10:694600-696400	Weak transcription	Esophagus	oesophagus
43	chr10:694600-696400	Weak transcription	Spleen	Spleen

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