Variant report

Variant	nsv825924
Chromosome Location	chr11:58626835-58634921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564228687	chr11:58631000-58631001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs587953	chr11:58631001-58631002	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs492802	chr11:58631023-58631024	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs113040048	chr11:58631078-58631079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs493659	chr11:58631089-58631090	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550276403	chr11:58631149-58631150	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569873535	chr11:58631181-58631182	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs116573974	chr11:58631185-58631186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs144334796	chr11:58631190-58631191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs559199100	chr11:58631252-58631253	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561197502	chr11:58631272-58631273	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573063727	chr11:58631289-58631290	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530039996	chr11:58631307-58631308	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534999503	chr11:58631361-58631362	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553428482	chr11:58631390-58631391	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148360785	chr11:58631397-58631398	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141673318	chr11:58631420-58631421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557501963	chr11:58631421-58631422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs496601	chr11:58631443-58631444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs497348	chr11:58631476-58631477	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191419986	chr11:58631479-58631480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117610125	chr11:58631490-58631491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540434600	chr11:58631552-58631553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11229669	chr11:58631592-58631593	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs519256	chr11:58631593-58631594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs150542258	chr11:58631598-58631599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs519310	chr11:58631607-58631608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs183947636	chr11:58631608-58631609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs682780	chr11:58631624-58631625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs139795946	chr11:58631628-58631629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571100425	chr11:58631645-58631646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535305243	chr11:58631646-58631647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553721484	chr11:58631669-58631670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78656302	chr11:58631693-58631694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs682357	chr11:58631714-58631715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs536556487	chr11:58631757-58631758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143179429	chr11:58631795-58631796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189754646	chr11:58631807-58631808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557696623	chr11:58631827-58631828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56001071	chr11:58631836-58631837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs202026188	chr11:58631840-58631841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573016041	chr11:58631848-58631849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76907161	chr11:58631934-58631935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192746597	chr11:58631942-58631943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573297132	chr11:58631945-58631946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573402234	chr11:58631982-58631983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs680976	chr11:58632016-58632017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565839010	chr11:58632036-58632037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562586357	chr11:58632046-58632047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146259738	chr11:58632056-58632057	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58631000-58631400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:58631000-58631400	ZNF genes & repeats	Thymus	Thymus
3	chr11:58631200-58631400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:58631400-58635000	Enhancers	Thymus	Thymus
5	chr11:58631600-58632400	Enhancers	Fetal Thymus	thymus
6	chr11:58632400-58632800	Weak transcription	Fetal Thymus	thymus
7	chr11:58632800-58634600	Enhancers	Fetal Thymus	thymus
8	chr11:58633800-58634000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:58634000-58634800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:58634000-58635800	Enhancers	NHEK	skin
11	chr11:58634200-58634600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:58634200-58635600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:58634400-58635000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:58634400-58635600	Enhancers	HMEC	breast
15	chr11:58634800-58635400	Enhancers	NHDF-Ad	bronchial
16	chr11:58634800-58635600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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