Variant report

Variant	esv275133
Chromosome Location	chr10:23098092-23100287
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:23080355..23083056-chr10:23096446..23098590,2	K562	blood:
2	chr10:23001483..23003855-chr10:23099770..23102739,2	K562	blood:
3	chr10:23098595..23101084-chr2:58865453..58867756,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150867	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11013140	chr10:23098092-23098093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539026476	chr10:23098125-23098126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559054019	chr10:23098136-23098137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575799604	chr10:23098139-23098140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs79732954	chr10:23098140-23098141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564152952	chr10:23098171-23098172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563456511	chr10:23098181-23098182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573794824	chr10:23098193-23098194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377711525	chr10:23098196-23098197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114945157	chr10:23098227-23098228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201443647	chr10:23098264-23098265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528031662	chr10:23098275-23098276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550951347	chr10:23098286-23098287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560868657	chr10:23098305-23098306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184236476	chr10:23098313-23098314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530503053	chr10:23098325-23098326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188570509	chr10:23098337-23098338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550296939	chr10:23098355-23098356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374044461	chr10:23098404-23098405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574481363	chr10:23098405-23098406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537579711	chr10:23098407-23098408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12244703	chr10:23098428-23098429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10924929	chr10:23098450-23098451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs139301928	chr10:23098492-23098493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11013141	chr10:23098509-23098510	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs147720691	chr10:23098514-23098515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543112661	chr10:23098521-23098522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569307187	chr10:23098527-23098528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538307549	chr10:23098556-23098557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555122428	chr10:23098569-23098570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554129697	chr10:23098572-23098573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191707993	chr10:23098577-23098578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184661914	chr10:23098587-23098588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189944664	chr10:23098592-23098593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142509072	chr10:23098650-23098651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572034996	chr10:23098655-23098656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182589236	chr10:23098663-23098664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7093263	chr10:23098671-23098672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10828337	chr10:23098692-23098693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543878335	chr10:23098705-23098706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576051041	chr10:23098719-23098720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116321491	chr10:23098740-23098741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111661194	chr10:23098751-23098752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368498655	chr10:23098820-23098821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530194627	chr10:23098826-23098827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202068109	chr10:23098846-23098847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547162497	chr10:23098857-23098858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144942887	chr10:23098862-23098863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200214535	chr10:23098880-23098881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563114365	chr10:23098889-23098890	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23093000-23099600	Weak transcription	NH-A	brain
2	chr10:23093000-23105200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:23094600-23099600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:23094600-23099600	Weak transcription	NHLF	lung
5	chr10:23094800-23104400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:23094800-23105200	Weak transcription	Osteobl	bone
7	chr10:23095000-23099800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:23095000-23099800	Weak transcription	HSMM	muscle
9	chr10:23095400-23099600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:23095600-23099600	Weak transcription	NHDF-Ad	bronchial
11	chr10:23095800-23099600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr10:23097800-23099600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:23099200-23099600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr10:23099400-23099800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:23099400-23100000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr10:23099400-23100200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr10:23099400-23100400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr10:23099400-23100400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr10:23099400-23100400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr10:23099400-23100400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr10:23099600-23099800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr10:23099600-23100000	Enhancers	NHLF	lung
23	chr10:23099600-23100200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:23099600-23100200	Enhancers	Hela-S3	cervix
25	chr10:23099600-23100200	Enhancers	NH-A	brain
26	chr10:23099600-23100400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:23099600-23100400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr10:23099600-23100400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:23099600-23100400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:23099600-23100400	Enhancers	NHDF-Ad	bronchial
31	chr10:23099800-23100000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr10:23099800-23100000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr10:23099800-23100200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:23099800-23100200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr10:23099800-23100200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:23099800-23100200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:23099800-23100200	Enhancers	HSMM	muscle
38	chr10:23099800-23100400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr10:23099800-23100400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr10:23100000-23100400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:23100000-23105200	Weak transcription	NHLF	lung
42	chr10:23100200-23100400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr10:23100200-23104400	Weak transcription	NH-A	brain
44	chr10:23100200-23105200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr10:23100200-23105200	Weak transcription	Hela-S3	cervix
46	chr10:23100200-23105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr10:23100200-23105600	Weak transcription	HSMM	muscle
48	chr10:23100200-23114400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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