Variant report

Variant	esv3376753
Chromosome Location	chr10:578254-579086
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	chr10:577006..578982-chr10:591616..594323,2	MCF-7	breast:
2	chr10:578987..580530-chr10:655147..657083,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60836082	chr10:578276-578277	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563172300	chr10:578282-578283	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142225225	chr10:578289-578290	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59361292	chr10:578348-578349	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559039134	chr10:578403-578404	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57817002	chr10:578420-578421	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551752850	chr10:578428-578429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573065542	chr10:578429-578430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371224055	chr10:578443-578444	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571951234	chr10:578462-578463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72039274	chr10:578465-578466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555868673	chr10:578468-578469	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543599209	chr10:578480-578481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10636550	chr10:578482-578483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111941731	chr10:578484-578485	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs59979748	chr10:578491-578492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556675863	chr10:578499-578500	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71489251	chr10:578500-578501	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540066171	chr10:578501-578502	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369852305	chr10:578515-578516	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs816637	chr10:578518-578519	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2794959	chr10:578536-578537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368771832	chr10:578555-578556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376741235	chr10:578569-578570	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28420998	chr10:578574-578575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61831028	chr10:578590-578591	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193231521	chr10:578608-578609	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10546313	chr10:578609-578610	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12770984	chr10:578610-578611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184655998	chr10:578613-578614	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs66481607	chr10:578623-578624	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113701985	chr10:578626-578627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535733207	chr10:578627-578628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs117456235	chr10:578628-578629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34935099	chr10:578633-578634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539042462	chr10:578638-578639	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145111240	chr10:578643-578644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs61831029	chr10:578660-578661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540626152	chr10:578661-578662	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375681652	chr10:578674-578675	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs816638	chr10:578680-578681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75061527	chr10:578686-578687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200996246	chr10:578696-578697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113469334	chr10:578698-578699	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147435795	chr10:578699-578700	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543360502	chr10:578703-578704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79435226	chr10:578704-578705	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140788478	chr10:578716-578717	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375946242	chr10:578741-578742	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145187026	chr10:578759-578760	Weak transcription Strong 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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:557800-582200	Weak transcription	Osteobl	bone
2	chr10:566000-581200	Weak transcription	Adipose Nuclei	Adipose
3	chr10:568600-582000	Weak transcription	Right Atrium	heart
4	chr10:568600-582400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:571400-580400	Enhancers	Ovary	ovary
6	chr10:572000-582000	Weak transcription	NH-A	brain
7	chr10:572200-579200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:572200-581800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:573200-579000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:573200-587200	Weak transcription	Gastric	stomach
11	chr10:573200-587800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:573800-582600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:575000-578800	Weak transcription	Fetal Stomach	stomach
14	chr10:575000-580000	Weak transcription	Fetal Brain Male	brain
15	chr10:575000-582000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:575800-580200	Weak transcription	Fetal Brain Female	brain
17	chr10:576000-578400	Weak transcription	Brain Angular Gyrus	brain
18	chr10:576400-579000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:576400-579200	Weak transcription	Brain Anterior Caudate	brain
20	chr10:576600-578600	Enhancers	Brain Hippocampus Middle	brain
21	chr10:576600-581800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr10:577000-579600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:577000-582000	Weak transcription	Brain Substantia Nigra	brain
24	chr10:577000-582000	Weak transcription	Psoas Muscle	Psoas
25	chr10:577000-582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr10:577200-579200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:577200-581000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:577400-578400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr10:577400-578600	Enhancers	Fetal Muscle Trunk	muscle
30	chr10:577600-578400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:577600-579000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr10:577600-579200	Weak transcription	Spleen	Spleen
33	chr10:577600-579800	Enhancers	Pancreas	Pancrea
34	chr10:577800-578400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr10:577800-579200	Weak transcription	Left Ventricle	heart
36	chr10:577800-580600	Strong transcription	Fetal Intestine Small	intestine
37	chr10:578000-580000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr10:578200-578400	Enhancers	Colon Smooth Muscle	Colon
39	chr10:578200-578400	Enhancers	Fetal Muscle Leg	muscle
40	chr10:578200-578800	Enhancers	Right Ventricle	heart
41	chr10:578400-578800	Weak transcription	Colon Smooth Muscle	Colon
42	chr10:578400-579600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr10:578400-579800	Enhancers	Brain Angular Gyrus	brain
44	chr10:578400-580000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:578400-582200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:578400-587800	Weak transcription	Fetal Muscle Leg	muscle
47	chr10:578600-579000	Weak transcription	Brain Hippocampus Middle	brain
48	chr10:578600-579000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr10:578800-579000	Enhancers	Colon Smooth Muscle	Colon
50	chr10:578800-579600	Strong transcription	Fetal Stomach	stomach

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