Variant report

Variant	esv3317152
Chromosome Location	chr10:1538952-1544150
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	chr10:1539157..1540737-chr10:1542301..1544094,2	K562	blood:
2	chr10:1539157..1540737-chr10:1542301..1544094,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146033874	chr10:1543409-1543410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190501736	chr10:1543421-1543422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139478707	chr10:1543454-1543455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375522891	chr10:1543482-1543483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534910134	chr10:1543522-1543523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183250721	chr10:1543567-1543568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72764934	chr10:1543586-1543587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537372177	chr10:1543597-1543598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2063941	chr10:1543614-1543615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551352547	chr10:1543642-1543643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573595720	chr10:1543645-1543646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542602281	chr10:1543672-1543673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72764935	chr10:1543677-1543678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149568482	chr10:1543681-1543682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144248420	chr10:1543747-1543748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34742389	chr10:1543766-1543767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2063940	chr10:1543839-1543840	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs61831917	chr10:1543852-1543853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs35934800	chr10:1543887-1543888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs60457795	chr10:1543897-1543898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61831918	chr10:1543940-1543941	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs548837605	chr10:1543944-1543945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188323405	chr10:1543963-1543964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529254500	chr10:1543971-1543972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548938127	chr10:1543979-1543980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565853149	chr10:1543996-1543997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572918181	chr10:1544002-1544003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528596358	chr10:1544031-1544032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192608946	chr10:1544114-1544115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571793594	chr10:1544115-1544116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566572540	chr10:1544146-1544147	Enhancers	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
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1543400-1544000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr10:1543600-1544000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:1543800-1545800	Enhancers	Fetal Intestine Large	intestine
4	chr10:1544000-1545800	Enhancers	Fetal Intestine Small	intestine

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