Variant report

Variant	esv3338952
Chromosome Location	chr10:501177-501631
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	chr10:501603..504452-chr10:504874..506411,2	MCF-7	breast:
2	chr10:488559..490151-chr10:500981..502924,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560996661	chr10:501198-501199	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs10795165	chr10:501205-501206	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540006576	chr10:501225-501226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560386628	chr10:501264-501265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532389498	chr10:501267-501268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552286832	chr10:501269-501270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562602049	chr10:501270-501271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10904251	chr10:501277-501278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs190769303	chr10:501283-501284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200822424	chr10:501294-501295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201837134	chr10:501318-501319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10904252	chr10:501322-501323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs11252528	chr10:501333-501334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11252529	chr10:501356-501357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199925055	chr10:501375-501376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113276757	chr10:501379-501380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370830591	chr10:501381-501382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35418083	chr10:501389-501390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28545129	chr10:501390-501391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375367903	chr10:501407-501408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112200136	chr10:501413-501414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11252530	chr10:501436-501437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78551707	chr10:501438-501439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367723473	chr10:501439-501440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28710800	chr10:501447-501448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547728145	chr10:501450-501451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570699213	chr10:501458-501459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12773128	chr10:501470-501471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7089732	chr10:501504-501505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539677301	chr10:501516-501517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28400358	chr10:501527-501528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576501588	chr10:501530-501531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7081933	chr10:501550-501551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558654175	chr10:501552-501553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34462029	chr10:501561-501562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112103422	chr10:501584-501585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs33969466	chr10:501607-501608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542182632	chr10:501609-501610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35013971	chr10:501617-501618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34927370	chr10:501618-501619	Weak 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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:436600-521200	Weak transcription	HepG2	liver
2	chr10:479800-503600	Weak transcription	NHLF	lung
3	chr10:483000-503600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:486400-504600	Weak transcription	Fetal Kidney	kidney
5	chr10:486800-505400	Weak transcription	HSMM	muscle
6	chr10:491600-505400	Weak transcription	HSMMtube	muscle
7	chr10:492200-505400	Weak transcription	Fetal Intestine Large	intestine
8	chr10:492200-515600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:494400-503600	Weak transcription	Fetal Intestine Small	intestine
10	chr10:495800-501200	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr10:496000-501200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr10:496000-501200	Enhancers	Brain Angular Gyrus	brain
13	chr10:496000-501200	Enhancers	Brain Hippocampus Middle	brain
14	chr10:496000-501600	Enhancers	Brain Cingulate Gyrus	brain
15	chr10:496800-501200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr10:496800-504400	Weak transcription	Gastric	stomach
17	chr10:497000-501400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr10:497000-503400	Weak transcription	Fetal Heart	heart
19	chr10:497200-501200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:497200-502200	Weak transcription	Adipose Nuclei	Adipose
21	chr10:497600-501400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr10:497800-501400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:497800-501600	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr10:497800-530400	Weak transcription	Stomach Mucosa	stomach
25	chr10:498000-501200	Enhancers	Brain Anterior Caudate	brain
26	chr10:498000-501400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr10:498000-501600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:498000-501600	Enhancers	Brain Substantia Nigra	brain
29	chr10:498200-501600	Enhancers	Primary T cells from cord blood	blood
30	chr10:498200-501600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr10:498200-504400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr10:498400-501400	Enhancers	Colon Smooth Muscle	Colon
33	chr10:498400-501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:498400-501600	Enhancers	Rectal Smooth Muscle	rectum
35	chr10:498600-501400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr10:498800-504400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:499000-503600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr10:499000-504400	Weak transcription	Lung	lung
39	chr10:499400-505400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr10:499400-516400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:499600-505400	Weak transcription	Fetal Lung	lung
42	chr10:499600-517400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:499800-501400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr10:499800-502200	Weak transcription	Fetal Brain Male	brain
45	chr10:499800-502400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:499800-502400	Weak transcription	Fetal Brain Female	brain
47	chr10:499800-504600	Weak transcription	Spleen	Spleen
48	chr10:499800-505600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr10:500000-501200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr10:500000-501400	Enhancers	Muscle Satellite Cultured Cells	--

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