Variant report

Variant	rs2122510
Chromosome Location	chr4:121754769-121754770
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10033707	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs10518379	0.88[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11728387	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11733915	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs11734461	0.87[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11735169	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs12499000	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs12507922	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs12507970	0.87[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12508015	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs12508048	0.88[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12508821	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs12509870	0.88[CEU][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12509912	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs12509939	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs12509993	0.87[CEU][hapmap]
rs1511303	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs1511304	0.82[CHB][hapmap]
rs1511305	0.83[JPT][hapmap]
rs1511307	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs1511308	0.85[CEU][hapmap];0.83[CHB][hapmap]
rs1567551	0.82[ASN][1000 genomes]
rs17051266	0.80[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1849078	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1868715	0.80[YRI][hapmap]
rs1949110	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs1949111	0.88[CEU][hapmap];0.87[JPT][hapmap]
rs2203060	0.88[CEU][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs2221814	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs2221815	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs3761721	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs3804162	0.81[JPT][hapmap]
rs3804167	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs3804168	0.82[CEU][hapmap];0.83[JPT][hapmap]
rs3804171	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4336252	0.88[CEU][hapmap];0.88[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs4833178	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4833179	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs4833180	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4833181	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4833186	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4833674	0.88[CEU][hapmap];0.83[JPT][hapmap]
rs4833680	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4833684	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4833686	0.88[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4833687	0.85[ASN][1000 genomes]
rs56998648	0.81[AFR][1000 genomes]
rs6534216	0.94[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6811794	1.00[CEU][hapmap];0.87[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs729934	0.88[CEU][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879852	chr4:121108734-121768496	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv461634	chr4:121623057-121765527	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv595334	chr4:121623057-121765527	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013704	chr4:121657648-121791601	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121729600-121770400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:121730400-121760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:121730400-121760800	Weak transcription	Pancreas	Pancrea
4	chr4:121732200-121754800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:121737600-121759800	Weak transcription	Lung	lung
6	chr4:121738200-121759600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:121743800-121765400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:121747200-121755400	Weak transcription	Fetal Intestine Large	intestine
9	chr4:121750400-121768400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:121751600-121756400	Weak transcription	Left Ventricle	heart
11	chr4:121751600-121762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:121751800-121759600	Weak transcription	Ovary	ovary
13	chr4:121752600-121755600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:121753400-121762600	Weak transcription	Osteobl	bone
15	chr4:121754400-121756000	ZNF genes & repeats	Fetal Lung	lung
16	chr4:121754400-121756400	Weak transcription	Fetal Heart	heart
17	chr4:121754600-121760000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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