Variant report

Variant	rs11683229
Chromosome Location	chr2:63596836-63596837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11125961	0.84[ASN][1000 genomes]
rs11680079	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs11685079	0.83[AMR][1000 genomes]
rs11893120	0.84[ASN][1000 genomes]
rs11900732	0.92[ASN][1000 genomes]
rs12993094	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13000175	0.83[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes]
rs13013890	1.00[ASW][hapmap];0.83[CEU][hapmap];0.84[CHB][hapmap];0.89[CHD][hapmap];0.84[GIH][hapmap]
rs13013948	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13021852	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs13025357	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs13028634	0.81[EUR][1000 genomes]
rs13030917	0.88[ASN][1000 genomes]
rs13431584	0.84[CHB][hapmap]
rs1446568	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1949411	1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[ASN][1000 genomes]
rs2166498	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs33977056	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs34781199	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35684492	0.83[ASN][1000 genomes]
rs6704998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs67528972	0.80[AMR][1000 genomes]
rs68094480	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv834241	chr2:63490262-63668205	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1014935	chr2:63545598-63599535	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1012628	chr2:63545598-63604859	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1013613	chr2:63545598-63606689	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1002047	chr2:63584797-63648782	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Protein quantitative trait loci	18464913	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63572000-63624000	Weak transcription	Left Ventricle	heart
2	chr2:63572800-63597000	Weak transcription	Dnd41	blood
3	chr2:63581400-63622000	Weak transcription	Ovary	ovary
4	chr2:63584200-63621800	Weak transcription	Primary B cells from cord blood	blood
5	chr2:63584400-63605400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:63585000-63604200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:63585200-63601000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:63593800-63599400	Weak transcription	Fetal Heart	heart
9	chr2:63595000-63612200	Weak transcription	HSMM	muscle
10	chr2:63595200-63631200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:63596200-63599400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr2:63596200-63600800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:63596400-63597400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr2:63596800-63597000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:63596800-63597800	ZNF genes & repeats	Fetal Lung	lung
16	chr2:63596800-63599200	ZNF genes & repeats	Adipose Nuclei	Adipose

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