Variant report

Variant	esv2754784
Chromosome Location	chr10:118255010-118284010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:118230036..118230917-chr10:118280848..118281580,4	MCF-7	breast:
2	chr10:118270037..118270892-chr7:33545417..33545952,2	MCF-7	breast:
3	chr10:118280662..118281383-chr18:32543933..32544819,2	MCF-7	breast:
4	chr10:118268497..118270832-chr10:118275274..118277389,2	MCF-7	breast:
5	chr10:118268497..118270832-chr10:118275274..118277389,2	MCF-7	breast:
6	chr10:118280702..118281248-chr10:118357219..118357769,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187021	chromatin interactions

Extended variants
information (count: 367 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200478435	chr10:118258226-118258227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368360472	chr10:118258261-118258262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563955166	chr10:118258263-118258264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546091017	chr10:118258326-118258327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143014693	chr10:118258388-118258389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182025222	chr10:118258393-118258394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186315985	chr10:118258401-118258402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147475337	chr10:118258404-118258405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139307082	chr10:118258410-118258411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574486662	chr10:118258416-118258417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544891120	chr10:118258426-118258427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550812179	chr10:118258462-118258463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570997494	chr10:118258463-118258464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562302520	chr10:118258481-118258482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4751596	chr10:118258502-118258503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145585741	chr10:118258523-118258524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566817409	chr10:118258533-118258534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535795114	chr10:118258588-118258589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12269235	chr10:118258615-118258616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6585410	chr10:118258624-118258625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189923083	chr10:118258655-118258656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117044389	chr10:118258662-118258663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576920549	chr10:118258697-118258698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545951080	chr10:118258709-118258710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2420293	chr10:118258728-118258729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs559625938	chr10:118258759-118258760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2901107	chr10:118258769-118258770	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542171176	chr10:118258782-118258783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2420294	chr10:118258788-118258789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs4454634	chr10:118258819-118258820	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs180710934	chr10:118258829-118258830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570866194	chr10:118258885-118258886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2420295	chr10:118258927-118258928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs546790230	chr10:118258960-118258961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2420296	chr10:118258963-118258964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144606212	chr10:118258999-118259000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555798968	chr10:118259002-118259003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568017991	chr10:118259035-118259036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113561368	chr10:118259036-118259037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs151159077	chr10:118259038-118259039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571494980	chr10:118259069-118259070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs539587903	chr10:118259120-118259121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372997812	chr10:118259122-118259123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553181297	chr10:118259152-118259153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573092341	chr10:118259191-118259192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557868972	chr10:118259258-118259259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs68098419	chr10:118259282-118259283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375328410	chr10:118259283-118259284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112071837	chr10:118259324-118259325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544273444	chr10:118259325-118259326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118258200-118258800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr10:118258200-118259200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:118258800-118262400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:118260800-118261200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr10:118260800-118261200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr10:118260800-118261200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:118261000-118261400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr10:118261200-118261400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:118280200-118280800	Enhancers	Pancreas	Pancrea
10	chr10:118280800-118281200	Weak transcription	Pancreas	Pancrea
11	chr10:118281200-118283200	Enhancers	Pancreas	Pancrea
12	chr10:118283200-118296400	Weak transcription	Pancreas	Pancrea
13	chr10:118283600-118283800	Enhancers	Duodenum Mucosa	Duodenum

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