Variant report

Variant	esv3384307
Chromosome Location	chr10:5293051-5294583
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	chr10:5285994..5288790-chr10:5292059..5294701,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376637746	chr10:5293102-5293103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536221125	chr10:5293103-5293104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528595628	chr10:5293214-5293215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201326784	chr10:5293336-5293337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552344268	chr10:5293338-5293339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200690414	chr10:5293339-5293340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79622567	chr10:5293340-5293341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540215161	chr10:5293355-5293356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3996537	chr10:5293507-5293508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs529601211	chr10:5293511-5293512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537522665	chr10:5293528-5293529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371458132	chr10:5293564-5293565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191967001	chr10:5293566-5293567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577725887	chr10:5293574-5293575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551328670	chr10:5293599-5293600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181739984	chr10:5293627-5293628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554103460	chr10:5293637-5293638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117355579	chr10:5293661-5293662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528101091	chr10:5293673-5293674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs875833	chr10:5293681-5293682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185224744	chr10:5293691-5293692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560840339	chr10:5293700-5293701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189693763	chr10:5293713-5293714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543467842	chr10:5293714-5293715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564873468	chr10:5293724-5293725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182640115	chr10:5293737-5293738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138276436	chr10:5293738-5293739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559600898	chr10:5293825-5293826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187926553	chr10:5293844-5293845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548491851	chr10:5293876-5293877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368633649	chr10:5293932-5293933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191300517	chr10:5293933-5293934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117849636	chr10:5293940-5293941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183535211	chr10:5293955-5293956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80208936	chr10:5293956-5293957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77432327	chr10:5293974-5293975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188479243	chr10:5294017-5294018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192550337	chr10:5294018-5294019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144694756	chr10:5294021-5294022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554914416	chr10:5294025-5294026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575983366	chr10:5294071-5294072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543098609	chr10:5294084-5294085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7907152	chr10:5294096-5294097	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576897833	chr10:5294121-5294122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570359197	chr10:5294125-5294126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141511347	chr10:5294152-5294153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146190553	chr10:5294153-5294154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568088531	chr10:5294190-5294191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2398152	chr10:5294191-5294192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs148058641	chr10:5294207-5294208	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
Breast cancer	17133270	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
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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5286600-5293800	Weak transcription	A549	lung
2	chr10:5293800-5294400	Enhancers	A549	lung
3	chr10:5293800-5295000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:5293800-5295000	Enhancers	HepG2	liver
5	chr10:5294200-5294600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr10:5294200-5294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:5294200-5294600	Enhancers	Esophagus	oesophagus
8	chr10:5294200-5294600	Enhancers	Placenta	Placenta
9	chr10:5294200-5294600	Bivalent Enhancer	Left Ventricle	heart
10	chr10:5294200-5294600	Enhancers	Stomach Mucosa	stomach
11	chr10:5294200-5294600	Enhancers	HMEC	breast
12	chr10:5294200-5294800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:5294200-5294800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:5294200-5294800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:5294400-5294600	Flanking Active TSS	A549	lung
16	chr10:5294400-5294800	Enhancers	Muscle Satellite Cultured Cells	--

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