Variant report

Variant	esv3317185
Chromosome Location	chr10:1632452-1637450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1636416..1638763-chr10:1644116..1645883,2	K562	blood:
2	chr10:1621538..1624300-chr10:1635695..1637381,2	MCF-7	breast:
3	chr10:1637263..1639781-chr10:1644116..1647024,2	K562	blood:

Extended variants
information (count: 307 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541767399	chr10:1633204-1633205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs117914478	chr10:1633210-1633211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575865902	chr10:1633270-1633271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537452886	chr10:1633286-1633287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147522703	chr10:1633290-1633291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574240820	chr10:1633294-1633295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183030493	chr10:1633299-1633300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116761380	chr10:1633327-1633328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34594742	chr10:1633350-1633351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545952972	chr10:1633363-1633364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562658634	chr10:1633378-1633379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531590749	chr10:1633379-1633380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187600899	chr10:1633387-1633388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575482879	chr10:1633609-1633610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113769477	chr10:1633626-1633627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189344703	chr10:1633646-1633647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574080046	chr10:1633655-1633656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546014975	chr10:1633657-1633658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80341715	chr10:1633660-1633661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369980127	chr10:1633669-1633670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553474809	chr10:1633677-1633678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576497991	chr10:1633703-1633704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545692232	chr10:1633711-1633712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147553877	chr10:1633743-1633744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576303523	chr10:1633768-1633769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35410903	chr10:1633786-1633787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542095055	chr10:1633795-1633796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561299617	chr10:1633847-1633848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113613762	chr10:1633850-1633851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140952335	chr10:1633853-1633854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56004358	chr10:1633854-1633855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139806886	chr10:1633862-1633863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546987259	chr10:1633867-1633868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201000562	chr10:1633874-1633875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10219006	chr10:1633891-1633892	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532592109	chr10:1633892-1633893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78059062	chr10:1633894-1633895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538192613	chr10:1633899-1633900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111234940	chr10:1633908-1633909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61834178	chr10:1633909-1633910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11818655	chr10:1633924-1633925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192261031	chr10:1633944-1633945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534148776	chr10:1633967-1633968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs74583649	chr10:1634008-1634009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547997002	chr10:1634031-1634032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77822792	chr10:1634037-1634038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7896504	chr10:1634042-1634043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs139475898	chr10:1634043-1634044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556123235	chr10:1634120-1634121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576168025	chr10:1634126-1634127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1633200-1633400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1633600-1634000	Enhancers	Fetal Brain Male	brain
3	chr10:1634000-1637000	Weak transcription	Fetal Brain Male	brain
4	chr10:1634600-1648200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:1636600-1636800	Enhancers	Fetal Brain Female	brain
6	chr10:1636600-1637200	Enhancers	Fetal Lung	lung
7	chr10:1636800-1637200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr10:1637000-1637600	Enhancers	Fetal Brain Male	brain
9	chr10:1637000-1637600	Enhancers	Fetal Muscle Leg	muscle
10	chr10:1637200-1637400	Bivalent Enhancer	Fetal Stomach	stomach

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