Variant report

Variant	esv2471600
Chromosome Location	chr10:23470361-23471870
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	chr10:23466171..23468610-chr10:23470724..23472434,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540209058	chr10:23470363-23470364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151281245	chr10:23470419-23470420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537275937	chr10:23470460-23470461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546409769	chr10:23470464-23470465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72802145	chr10:23470488-23470489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546273276	chr10:23470495-23470496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564972169	chr10:23470524-23470525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12266688	chr10:23470574-23470575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550628793	chr10:23470591-23470592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567537717	chr10:23470599-23470600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140489855	chr10:23470633-23470634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372554163	chr10:23470643-23470644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546578928	chr10:23470652-23470653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566575023	chr10:23470672-23470673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186181793	chr10:23470693-23470694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75588584	chr10:23470699-23470700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373840358	chr10:23470700-23470701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57441471	chr10:23470710-23470711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368472007	chr10:23470730-23470731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372209197	chr10:23470731-23470732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577280781	chr10:23470771-23470772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569386435	chr10:23470838-23470839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375422208	chr10:23470848-23470849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12248042	chr10:23470864-23470865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150045872	chr10:23470909-23470910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190109127	chr10:23470981-23470982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182166436	chr10:23470991-23470992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553794189	chr10:23470992-23470993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116965130	chr10:23471002-23471003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546013289	chr10:23471049-23471050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546784855	chr10:23471097-23471098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147718235	chr10:23471104-23471105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544360156	chr10:23471105-23471106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11013311	chr10:23471192-23471193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs529969358	chr10:23471213-23471214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566549967	chr10:23471275-23471276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546913665	chr10:23471315-23471316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566514229	chr10:23471366-23471367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11013312	chr10:23471430-23471431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs370556962	chr10:23471470-23471471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552016037	chr10:23471481-23471482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568909320	chr10:23471503-23471504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377509604	chr10:23471601-23471602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142486898	chr10:23471633-23471634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568310090	chr10:23471665-23471666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534258829	chr10:23471683-23471684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554026655	chr10:23471775-23471776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23468200-23471800	Weak transcription	Pancreas	Pancrea
2	chr10:23471800-23472800	Enhancers	Pancreas	Pancrea

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