Variant report

Variant	esv3393362
Chromosome Location	chr3:195727955-195732353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564732067	chr3:195731603-195731604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116269690	chr3:195731629-195731630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376522687	chr3:195731679-195731680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549569492	chr3:195731708-195731709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9851562	chr3:195731741-195731742	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs183225806	chr3:195731753-195731754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547699849	chr3:195731756-195731757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371544739	chr3:195731766-195731767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188552361	chr3:195731767-195731768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539722316	chr3:195731816-195731817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191957189	chr3:195731829-195731830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563807541	chr3:195731830-195731831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184943779	chr3:195731842-195731843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555533512	chr3:195731853-195731854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530924575	chr3:195731878-195731879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187762630	chr3:195731933-195731934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572400805	chr3:195731965-195731966	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	16397240	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Intracranial aneurysm	16715129	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mental retardation	17124404	CNVD
Congenital anomalies of the kidney and urinary tract	20299530	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21509527	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	16760732	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	22958593	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20970697	CNVD
Mental retardation	19951919	CNVD
Autism	20970697	CNVD
Developmental delay	18471269	CNVD
Intellectual disability	22045946	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Uveal melanoma	20484589	CNVD
3q29 microdeletion syndrome	20500065	CNVD
Biliary cancer	20453639	CNVD
3q29 microdeletion syndrome	22283845	CNVD
3q29 microdeletion syndrome	21626679	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195726800-195728000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:195731600-195732000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links