Variant report

Variant	esv3331395
Chromosome Location	chr10:1276952-1280150
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	chr10:1276796..1278904-chr10:1331020..1332895,2	MCF-7	breast:

Extended variants
information (count: 199 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80329417	chr10:1276981-1276982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11250351	chr10:1277026-1277027	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568764598	chr10:1277031-1277032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538238312	chr10:1277048-1277049	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548603604	chr10:1277060-1277061	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187107906	chr10:1277088-1277089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534302348	chr10:1277095-1277096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191148082	chr10:1277115-1277116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72762912	chr10:1277117-1277118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11594345	chr10:1277147-1277148	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs17293713	chr10:1277149-1277150	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183109749	chr10:1277199-1277200	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148913574	chr10:1277201-1277202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143216293	chr10:1277289-1277290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570983480	chr10:1277373-1277374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373262172	chr10:1277392-1277393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561357407	chr10:1277480-1277481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77808661	chr10:1277491-1277492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540748517	chr10:1277538-1277539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564060694	chr10:1277565-1277566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533140553	chr10:1277570-1277571	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374864187	chr10:1277607-1277608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549756137	chr10:1277686-1277687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563551052	chr10:1277697-1277698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1995852	chr10:1277716-1277717	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548566457	chr10:1277724-1277725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568485195	chr10:1277763-1277764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115467418	chr10:1277794-1277795	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547855973	chr10:1277801-1277802	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570898933	chr10:1277823-1277824	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540021832	chr10:1277829-1277830	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576344878	chr10:1277833-1277834	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147877367	chr10:1277859-1277860	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541760478	chr10:1277864-1277865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570291063	chr10:1277894-1277895	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7091765	chr10:1277895-1277896	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535762365	chr10:1277906-1277907	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374555144	chr10:1277971-1277972	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571691915	chr10:1278000-1278001	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34525672	chr10:1278028-1278029	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs557829753	chr10:1278039-1278040	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375184599	chr10:1278044-1278045	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28663508	chr10:1278082-1278083	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141619132	chr10:1278093-1278094	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572292848	chr10:1278106-1278107	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563351027	chr10:1278116-1278117	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs529172155	chr10:1278117-1278118	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375278527	chr10:1278124-1278125	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187605808	chr10:1278144-1278145	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559721268	chr10:1278231-1278232	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1259000-1281000	Weak transcription	Right Atrium	heart
2	chr10:1266200-1277400	Weak transcription	Brain Angular Gyrus	brain
3	chr10:1266200-1278200	Weak transcription	Spleen	Spleen
4	chr10:1266400-1278400	Weak transcription	Fetal Kidney	kidney
5	chr10:1266400-1281000	Weak transcription	Gastric	stomach
6	chr10:1267200-1278200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:1273000-1277600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr10:1273200-1278000	Weak transcription	Dnd41	blood
9	chr10:1273400-1281600	Strong transcription	Primary T cells from cord blood	blood
10	chr10:1273800-1281000	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:1274200-1279000	Strong transcription	Brain Substantia Nigra	brain
12	chr10:1274200-1281600	Weak transcription	HSMM	muscle
13	chr10:1274400-1277200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr10:1274600-1278200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:1274800-1278000	Weak transcription	Pancreas	Pancrea
16	chr10:1275400-1281000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr10:1276000-1278200	Weak transcription	Brain Anterior Caudate	brain
18	chr10:1276000-1278200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr10:1276200-1277000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:1276200-1278200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:1276400-1278000	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr10:1276400-1281000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:1276400-1281200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr10:1276600-1277800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:1276800-1279600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr10:1277000-1277200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr10:1277000-1281000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:1277000-1282400	Weak transcription	Primary B cells from cord blood	blood
29	chr10:1277200-1278200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:1277400-1277800	Enhancers	Brain Angular Gyrus	brain
31	chr10:1277600-1280000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr10:1277800-1278600	Genic enhancers	Brain Angular Gyrus	brain
33	chr10:1277800-1279400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr10:1278000-1278400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr10:1278000-1278600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:1278000-1278800	Genic enhancers	Brain Inferior Temporal Lobe	brain
37	chr10:1278000-1278800	ZNF genes & repeats	Pancreas	Pancrea
38	chr10:1278000-1279400	Strong transcription	Dnd41	blood
39	chr10:1278200-1278600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:1278200-1278600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:1278200-1278600	Genic enhancers	Brain Cingulate Gyrus	brain
42	chr10:1278200-1278800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:1278200-1278800	Strong transcription	Brain Anterior Caudate	brain
44	chr10:1278200-1278800	ZNF genes & repeats	Esophagus	oesophagus
45	chr10:1278200-1278800	Bivalent/Poised TSS	Fetal Lung	lung
46	chr10:1278200-1279000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
47	chr10:1278200-1279000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:1278200-1279600	Strong transcription	Spleen	Spleen
49	chr10:1278200-1280800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr10:1278400-1278800	ZNF genes & repeats	Fetal Kidney	kidney

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