Variant report

Variant	esv3406269
Chromosome Location	chr10:4956252-4958600
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:4957459..4960472-chr10:4974097..4976295,3	K562	blood:
2	chr10:4952930..4955597-chr10:4957156..4959069,3	K562	blood:
3	chr10:4953562..4955597-chr10:4956461..4959069,2	K562	blood:
4	chr10:4953662..4955307-chr10:4957981..4959719,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188321682	chr10:4956291-4956292	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs192552929	chr10:4956296-4956297	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs375679047	chr10:4956310-4956311	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534725299	chr10:4956389-4956390	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146689986	chr10:4956391-4956392	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546754027	chr10:4956466-4956467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184507323	chr10:4956470-4956471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs567726871	chr10:4956485-4956486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs535036348	chr10:4956493-4956494	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556882848	chr10:4956502-4956503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs140221844	chr10:4956503-4956504	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150289263	chr10:4956504-4956505	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557643483	chr10:4956529-4956530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs188905071	chr10:4956638-4956639	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs572963763	chr10:4956644-4956645	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540384850	chr10:4956650-4956651	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555792303	chr10:4956667-4956668	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574087594	chr10:4956778-4956779	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181991523	chr10:4956906-4956907	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563219361	chr10:4956908-4956909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567943158	chr10:4956913-4956914	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533652029	chr10:4956983-4956984	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs184622962	chr10:4957060-4957061	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571773741	chr10:4957064-4957065	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369287863	chr10:4957091-4957092	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs573030447	chr10:4957106-4957107	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs545612075	chr10:4957124-4957125	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575013425	chr10:4957184-4957185	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368496840	chr10:4957191-4957192	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs190285220	chr10:4957216-4957217	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs546379128	chr10:4957291-4957292	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs180977889	chr10:4957400-4957401	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs550972270	chr10:4957475-4957476	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528896372	chr10:4957502-4957503	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550145454	chr10:4957531-4957532	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs568837849	chr10:4957541-4957542	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs149101706	chr10:4957553-4957554	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs146169310	chr10:4957627-4957628	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs55810378	chr10:4957668-4957669	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533944211	chr10:4957776-4957777	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs555946933	chr10:4957799-4957800	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs574174544	chr10:4957841-4957842	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs544652712	chr10:4957845-4957846	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185799262	chr10:4957849-4957850	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs10430777	chr10:4957859-4957860	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545395645	chr10:4957868-4957869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs376057684	chr10:4957882-4957883	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs71391980	chr10:4957883-4957884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs71828728	chr10:4957888-4957889	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs398012698	chr10:4957899-4957900	Weak transcription Active TSS	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4918400-4968000	Weak transcription	Primary T cells from cord blood	blood
2	chr10:4944800-4956400	Weak transcription	A549	lung
3	chr10:4945200-4962200	Weak transcription	Ovary	ovary
4	chr10:4946000-4973400	Weak transcription	Pancreas	Pancrea
5	chr10:4950600-4960400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:4952000-4964400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr10:4952200-4966600	Weak transcription	Left Ventricle	heart
8	chr10:4952200-4967800	Weak transcription	Right Ventricle	heart
9	chr10:4953600-4956400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:4953800-4958000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:4953800-4960200	Weak transcription	HMEC	breast
12	chr10:4954000-4958000	Weak transcription	NHEK	skin
13	chr10:4955800-4956600	Flanking Active TSS	Liver	Liver
14	chr10:4956400-4956600	Enhancers	A549	lung
15	chr10:4956400-4956800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:4956400-4956800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:4956600-4958800	Active TSS	Liver	Liver
18	chr10:4956600-4961000	Weak transcription	A549	lung
19	chr10:4956800-4958200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:4956800-4960200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr10:4958000-4958600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:4958000-4958600	Enhancers	NHEK	skin
23	chr10:4958200-4958600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr10:4958600-4960200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:4958600-4960200	Weak transcription	NHEK	skin
26	chr10:4958600-4960400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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