Variant report

Variant	nsv517473
Chromosome Location	chr3:23031894-23032340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs822774	chr3:23031894-23031895	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191308677	chr3:23031955-23031956	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556084626	chr3:23031972-23031973	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57132267	chr3:23032000-23032001	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs822773	chr3:23032007-23032008	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370043978	chr3:23032008-23032009	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114236684	chr3:23032024-23032025	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533204529	chr3:23032026-23032027	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186894241	chr3:23032047-23032048	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150203447	chr3:23032064-23032065	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190989701	chr3:23032094-23032095	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529564257	chr3:23032103-23032104	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs822772	chr3:23032109-23032110	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563030718	chr3:23032127-23032128	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533607778	chr3:23032128-23032129	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551537174	chr3:23032179-23032180	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565019270	chr3:23032180-23032181	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183217154	chr3:23032184-23032185	Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs680110	chr3:23032225-23032226	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs566873842	chr3:23032235-23032236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186806537	chr3:23032236-23032237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556459925	chr3:23032282-23032283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571431899	chr3:23032285-23032286	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191328961	chr3:23032304-23032305	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182628553	chr3:23032306-23032307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188075868	chr3:23032325-23032326	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540685897	chr3:23032338-23032339	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs497387	chr3:23032340-23032341	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:71)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23030000-23032000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:23030000-23034200	Weak transcription	Left Ventricle	heart
3	chr3:23030200-23038200	Weak transcription	Psoas Muscle	Psoas
4	chr3:23031800-23032200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:23031800-23032600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:23032000-23032600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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