Variant report

Variant	esv19528
Chromosome Location	chr10:1657661-1660888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552118277	chr10:1657669-1657670	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs562685660	chr10:1657680-1657681	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10751807	chr10:1657683-1657684	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548516467	chr10:1657693-1657694	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568354276	chr10:1657694-1657695	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs536298555	chr10:1657698-1657699	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs58062409	chr10:1657705-1657706	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12049791	chr10:1657772-1657773	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557315683	chr10:1657777-1657778	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574128763	chr10:1657780-1657781	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185098917	chr10:1657783-1657784	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs116905511	chr10:1657790-1657791	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs74644451	chr10:1657819-1657820	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370254224	chr10:1657821-1657822	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs554882964	chr10:1657834-1657835	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34918345	chr10:1657837-1657838	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371798179	chr10:1657850-1657851	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7920221	chr10:1657861-1657862	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545448142	chr10:1657862-1657863	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs10794771	chr10:1657989-1657990	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576726810	chr10:1658021-1658022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370762105	chr10:1658022-1658023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139431593	chr10:1658030-1658031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375235167	chr10:1658073-1658074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7912853	chr10:1658107-1658108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542044410	chr10:1658112-1658113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561992519	chr10:1658139-1658140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs372281442	chr10:1658150-1658151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188413179	chr10:1658191-1658192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566880501	chr10:1658216-1658217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532356011	chr10:1658226-1658227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35631463	chr10:1658240-1658241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568998684	chr10:1658251-1658252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538095337	chr10:1658254-1658255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76763827	chr10:1658278-1658279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568692826	chr10:1658312-1658313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145063126	chr10:1658349-1658350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554140387	chr10:1658371-1658372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1874999	chr10:1658403-1658404	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545474184	chr10:1658416-1658417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530065235	chr10:1658448-1658449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1875000	chr10:1658504-1658505	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11250668	chr10:1658521-1658522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs11250669	chr10:1658534-1658535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs561879859	chr10:1658556-1658557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144942056	chr10:1658557-1658558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192697491	chr10:1658559-1658560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564183861	chr10:1658571-1658572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551794581	chr10:1658577-1658578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1875001	chr10:1658585-1658586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1651800-1671200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:1654600-1659600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr10:1654800-1659000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:1654800-1659000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr10:1654800-1659000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr10:1655400-1659800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:1655400-1660000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:1657400-1657800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:1657400-1657800	Enhancers	Esophagus	oesophagus
10	chr10:1657400-1658000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:1657400-1658200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:1657800-1658800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:1658000-1667600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:1658200-1659200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:1658600-1658800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:1658800-1659200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:1659000-1659200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:1659000-1660200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr10:1659000-1660400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr10:1659000-1660400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr10:1659200-1659400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr10:1659200-1671800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:1659600-1660000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr10:1659800-1660200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:1659800-1660400	Enhancers	Primary B cells from peripheral blood	blood
26	chr10:1660000-1660400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:1660000-1660600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr10:1660000-1660600	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr10:1660200-1662800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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