Variant report

Variant	esv3347565
Chromosome Location	chr3:140434382-140434580
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	chr3:140433649..140435909-chr3:140440994..140443307,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NMNAT3-10	chr3:140434525-140435054	refGeneNc_2651_NR_027070

Extended variants
information (count: 20 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561555386	chr3:140434402-140434403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2649853	chr3:140434417-140434418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533038806	chr3:140434422-140434423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376114941	chr3:140434440-140434441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573455709	chr3:140434441-140434442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186150772	chr3:140434445-140434446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200056896	chr3:140434451-140434452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs66461775	chr3:140434452-140434453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200318493	chr3:140434453-140434454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201305309	chr3:140434454-140434455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62268353	chr3:140434455-140434456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62268354	chr3:140434468-140434469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs62268355	chr3:140434471-140434472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192418571	chr3:140434507-140434508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180806713	chr3:140434518-140434519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371782479	chr3:140434531-140434532	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186246444	chr3:140434532-140434533	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs373773464	chr3:140434546-140434547	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs2583814	chr3:140434556-140434557	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs375755386	chr3:140434558-140434559	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Schizophrenia	17989066	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140428000-140436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:140428600-140435600	Weak transcription	Pancreas	Pancrea
3	chr3:140431600-140437200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:140431800-140435200	Weak transcription	GM12878-XiMat	blood
5	chr3:140433400-140435200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr3:140434000-140435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:140434000-140435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:140434000-140438200	Weak transcription	HepG2	liver
9	chr3:140434200-140435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:140434200-140435200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:140434200-140435200	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:140434200-140439200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:140434400-140435600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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