Variant report

Variant	esv1804781
Chromosome Location	chr10:1279272-1282372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 305 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:305 , 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	rs4880799	chr10:1279272-1279273	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529355421	chr10:1279316-1279317	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549130395	chr10:1279321-1279322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570050564	chr10:1279326-1279327	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186401979	chr10:1279352-1279353	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116919840	chr10:1279357-1279358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551769113	chr10:1279390-1279391	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189236587	chr10:1279391-1279392	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373525757	chr10:1279397-1279398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536642856	chr10:1279409-1279410	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4880800	chr10:1279446-1279447	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs113934329	chr10:1279502-1279503	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4880801	chr10:1279503-1279504	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553177288	chr10:1279509-1279510	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572930188	chr10:1279510-1279511	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540901636	chr10:1279529-1279530	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538861334	chr10:1279530-1279531	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181679896	chr10:1279540-1279541	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141933257	chr10:1279541-1279542	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111825422	chr10:1279549-1279550	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543370640	chr10:1279561-1279562	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563356514	chr10:1279577-1279578	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117912786	chr10:1279584-1279585	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150256693	chr10:1279595-1279596	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67687625	chr10:1279598-1279599	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs367955654	chr10:1279600-1279601	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs369970462	chr10:1279621-1279622	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs528665960	chr10:1279622-1279623	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs144533631	chr10:1279652-1279653	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs148037900	chr10:1279654-1279655	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200268465	chr10:1279672-1279673	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563819822	chr10:1279673-1279674	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200449688	chr10:1279690-1279691	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565396172	chr10:1279697-1279698	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201411121	chr10:1279718-1279719	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs141751719	chr10:1279723-1279724	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs185909498	chr10:1279728-1279729	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs147477539	chr10:1279731-1279732	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs191642114	chr10:1279742-1279743	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183096272	chr10:1279749-1279750	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs199540152	chr10:1279752-1279753	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs140028838	chr10:1279753-1279754	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs267602405	chr10:1279754-1279755	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143822275	chr10:1279759-1279760	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35356097	chr10:1279760-1279761	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139936295	chr10:1279764-1279765	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs371206658	chr10:1279769-1279770	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149857202	chr10:1279779-1279780	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs199735124	chr10:1279780-1279781	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs138937848	chr10:1279782-1279783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1259000-1281000	Weak transcription	Right Atrium	heart
2	chr10:1266400-1281000	Weak transcription	Gastric	stomach
3	chr10:1273400-1281600	Strong transcription	Primary T cells from cord blood	blood
4	chr10:1273800-1281000	Weak transcription	Brain Hippocampus Middle	brain
5	chr10:1274200-1281600	Weak transcription	HSMM	muscle
6	chr10:1275400-1281000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:1276400-1281000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:1276400-1281200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:1276800-1279600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr10:1277000-1281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:1277000-1282400	Weak transcription	Primary B cells from cord blood	blood
12	chr10:1277600-1280000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr10:1277800-1279400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:1278000-1279400	Strong transcription	Dnd41	blood
15	chr10:1278200-1279600	Strong transcription	Spleen	Spleen
16	chr10:1278200-1280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr10:1278400-1279800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:1278600-1279600	Strong transcription	Brain Angular Gyrus	brain
19	chr10:1278600-1279800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr10:1278600-1281000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:1278800-1281000	Weak transcription	Brain Anterior Caudate	brain
22	chr10:1278800-1281000	Weak transcription	Fetal Kidney	kidney
23	chr10:1278800-1281000	Weak transcription	Pancreas	Pancrea
24	chr10:1278800-1281200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr10:1279000-1281000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:1279000-1281000	Weak transcription	Brain Substantia Nigra	brain
27	chr10:1279000-1281400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:1279200-1279600	Weak transcription	Esophagus	oesophagus
29	chr10:1279200-1281000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr10:1279400-1279600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr10:1279400-1281000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr10:1279400-1282200	Weak transcription	Dnd41	blood
33	chr10:1279600-1279800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr10:1279600-1279800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
35	chr10:1279600-1279800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr10:1279600-1279800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr10:1279600-1279800	ZNF genes & repeats	Spleen	Spleen
38	chr10:1279600-1281000	Weak transcription	Brain Angular Gyrus	brain
39	chr10:1279800-1280000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr10:1279800-1281000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:1279800-1281000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:1280000-1281000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr10:1280400-1282600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr10:1280600-1280800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr10:1280800-1281000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr10:1280800-1282000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr10:1280800-1282800	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr10:1281000-1281200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr10:1281000-1281200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:1281000-1281200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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