Variant report

Variant	esv3321553
Chromosome Location	chr10:365952-370150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:368780..371728-chr10:384825..386792,2	MCF-7	breast:

Extended variants
information (count: 301 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:301 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184041691	chr10:365982-365983	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150663533	chr10:365985-365986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187105861	chr10:365999-366000	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191539961	chr10:366019-366020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530607813	chr10:366039-366040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551224453	chr10:366095-366096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114666857	chr10:366112-366113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536813266	chr10:366117-366118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183771941	chr10:366126-366127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3097727	chr10:366139-366140	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538697126	chr10:366140-366141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76406936	chr10:366155-366156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140091456	chr10:366159-366160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143689436	chr10:366162-366163	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146798573	chr10:366182-366183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139523219	chr10:366200-366201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542762886	chr10:366225-366226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559437458	chr10:366226-366227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573085399	chr10:366250-366251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144177731	chr10:366254-366255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550818196	chr10:366266-366267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564852942	chr10:366273-366274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530490102	chr10:366280-366281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375985855	chr10:366305-366306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560917956	chr10:366306-366307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530276987	chr10:366307-366308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529591767	chr10:366308-366309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561234109	chr10:366321-366322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3125039	chr10:366330-366331	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7912253	chr10:366340-366341	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7921033	chr10:366341-366342	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs190553953	chr10:366365-366366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537804639	chr10:366396-366397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554649996	chr10:366420-366421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574874967	chr10:366435-366436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530093509	chr10:366438-366439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573084033	chr10:366444-366445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566248201	chr10:366448-366449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72653035	chr10:366450-366451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71505870	chr10:366465-366466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114625046	chr10:366499-366500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578247763	chr10:366508-366509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142108742	chr10:366542-366543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145882458	chr10:366545-366546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182202724	chr10:366571-366572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185252502	chr10:366574-366575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529780134	chr10:366597-366598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3123254	chr10:366604-366605	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542325314	chr10:366715-366716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376176619	chr10:366721-366722	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:329000-375200	Weak transcription	Psoas Muscle	Psoas
2	chr10:331400-375400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:342400-375600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:344200-369400	Weak transcription	A549	lung
5	chr10:344200-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr10:346000-367400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:349200-379400	Weak transcription	Thymus	Thymus
8	chr10:351400-367600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:353200-375600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:353200-375600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:353400-367000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:354000-369800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr10:354000-372200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:354400-369800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr10:355000-366800	Weak transcription	Colonic Mucosa	Colon
16	chr10:355000-375400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:355200-372200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr10:355400-382800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr10:356000-367200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:356200-366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:356600-370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:359400-367400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:360200-367400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr10:360400-367400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr10:360600-367400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:361600-369800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr10:361600-372200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:361800-369800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:361800-372200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr10:362400-366600	Strong transcription	Fetal Intestine Large	intestine
31	chr10:362600-367400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:363000-367400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:363000-367400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr10:363200-367400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr10:363600-367200	Strong transcription	Brain Germinal Matrix	brain
36	chr10:363800-369000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr10:363800-382800	Weak transcription	Fetal Brain Male	brain
38	chr10:364000-366000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:364000-369400	Weak transcription	NH-A	brain
40	chr10:364000-371000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:364200-366600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr10:364200-369600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr10:364200-369600	Weak transcription	Right Ventricle	heart
44	chr10:364200-372200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr10:364400-366000	Enhancers	Fetal Lung	lung
46	chr10:364400-366800	Weak transcription	Colon Smooth Muscle	Colon
47	chr10:364400-367600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr10:364400-369600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:364400-369800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:364600-366000	Weak transcription	Brain Cingulate Gyrus	brain

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