Variant report

Variant	esv2757359
Chromosome Location	chr10:1442709-1463158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1457147..1459326-chr10:1461247..1462897,2	MCF-7	breast:
2	chr10:1462956..1463735-chr10:1573069..1574036,3	MCF-7	breast:
3	chr10:1448874..1450654-chr10:1453842..1455839,2	K562	blood:
4	chr10:1449013..1451560-chr10:1498248..1499822,2	K562	blood:
5	chr10:1448874..1450654-chr10:1453842..1455839,2	K562	blood:
6	chr10:1439393..1442041-chr10:1448217..1450840,2	K562	blood:
7	chr10:1457147..1459326-chr10:1461247..1462897,2	MCF-7	breast:
8	chr10:1441499..1444025-chr10:1444943..1447669,3	MCF-7	breast:
9	chr10:1462723..1464898-chr10:1498013..1500643,2	MCF-7	breast:
10	chr10:1441499..1444025-chr10:1444943..1447669,3	MCF-7	breast:

No data

Extended variants
information (count: 1016 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1016 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12771141	chr10:1442709-1442710	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571535190	chr10:1442719-1442720	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs199706112	chr10:1442770-1442771	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs537331978	chr10:1442833-1442834	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs368173028	chr10:1442837-1442838	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs370678453	chr10:1442838-1442839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs146989282	chr10:1442844-1442845	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs573576756	chr10:1442856-1442857	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs112815016	chr10:1442861-1442862	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs542210699	chr10:1442863-1442864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552940789	chr10:1442873-1442874	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs111601126	chr10:1442896-1442897	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs79696532	chr10:1442901-1442902	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs375346870	chr10:1442916-1442917	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs578124101	chr10:1442922-1442923	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs34618990	chr10:1442924-1442925	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545144724	chr10:1442951-1442952	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs185252616	chr10:1442965-1442966	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs188522039	chr10:1442974-1442975	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs2820590	chr10:1443016-1443017	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs35429538	chr10:1443088-1443089	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543120859	chr10:1443092-1443093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs530006939	chr10:1443099-1443100	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs113377591	chr10:1443107-1443108	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs549067461	chr10:1443126-1443127	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs11819029	chr10:1443135-1443136	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11813382	chr10:1443154-1443155	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2820589	chr10:1443161-1443162	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11592576	chr10:1443180-1443181	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs550763372	chr10:1443237-1443238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs567820711	chr10:1443262-1443263	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs143198748	chr10:1443279-1443280	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs7076054	chr10:1443334-1443335	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572826848	chr10:1443336-1443337	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs538725542	chr10:1443337-1443338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs558728310	chr10:1443354-1443355	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs80353774	chr10:1443355-1443356	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs374504772	chr10:1443367-1443368	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148085529	chr10:1443384-1443385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs561147835	chr10:1443385-1443386	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs574610818	chr10:1443386-1443387	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs373411767	chr10:1443408-1443409	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs540542984	chr10:1443423-1443424	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs551677927	chr10:1443432-1443433	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs140957783	chr10:1443453-1443454	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs71495944	chr10:1443467-1443468	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs559472223	chr10:1443469-1443470	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs112899200	chr10:1443490-1443491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs75570958	chr10:1443499-1443500	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs145034137	chr10:1443520-1443521	Weak transcription Enhancers Bivalent Enhancer	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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1441200-1443000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr10:1442000-1443000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:1442000-1443200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr10:1442000-1443600	Enhancers	HSMM	muscle
5	chr10:1442000-1444000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:1442200-1442800	Flanking Bivalent TSS/Enh	HepG2	liver
7	chr10:1442200-1443000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr10:1442200-1443000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:1442200-1443400	Enhancers	Esophagus	oesophagus
10	chr10:1442200-1443600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:1442200-1443600	Enhancers	HSMMtube	muscle
12	chr10:1442200-1444600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr10:1442200-1446000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:1442400-1442800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr10:1442400-1443200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:1442600-1443600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr10:1442600-1443600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr10:1442600-1444000	Enhancers	Fetal Muscle Leg	muscle
19	chr10:1442800-1443000	Bivalent Enhancer	HepG2	liver
20	chr10:1442800-1443800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr10:1443000-1443200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:1443000-1445400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:1443000-1446000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr10:1443400-1443600	Bivalent Enhancer	Placenta	Placenta
25	chr10:1443600-1456000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:1443800-1444200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr10:1444000-1444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:1444200-1444600	Enhancers	Fetal Brain Male	brain
29	chr10:1444400-1445200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:1444800-1445200	Active TSS	Spleen	Spleen
31	chr10:1445200-1446000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:1445400-1446200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:1446000-1446200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:1446000-1446400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:1446000-1446400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:1446200-1449400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr10:1446400-1448800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:1446400-1449400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr10:1448000-1449400	Enhancers	Stomach Mucosa	stomach
40	chr10:1448600-1449600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr10:1448800-1450000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr10:1449200-1449800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr10:1449400-1449800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr10:1449400-1450000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr10:1449400-1450000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr10:1449600-1450000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr10:1449600-1450000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr10:1450000-1453000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:1451000-1451200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr10:1451000-1451400	Enhancers	Pancreas	Pancrea

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