Variant report

Variant	rs2172240
Chromosome Location	chr12:40604821-40604822
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10506148	0.90[CHB][hapmap];0.92[ASN][1000 genomes]
rs10784340	1.00[YRI][hapmap]
rs10877955	1.00[YRI][hapmap]
rs10877971	1.00[YRI][hapmap]
rs10878123	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs11174831	1.00[YRI][hapmap]
rs11175256	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11175332	0.94[JPT][hapmap]
rs11175371	0.84[JPT][hapmap];1.00[YRI][hapmap]
rs11175401	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs11175405	0.89[JPT][hapmap]
rs11175422	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11175458	0.80[ASN][1000 genomes]
rs11175540	0.86[ASN][1000 genomes]
rs11175558	0.94[JPT][hapmap]
rs11564115	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1388593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388596	0.84[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1472117	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1491924	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1491939	0.85[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1491942	0.82[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs17443199	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs17458613	1.00[YRI][hapmap]
rs17461429	0.83[ASN][1000 genomes]
rs1817817	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1907630	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907634	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2046931	0.89[JPT][hapmap]
rs2131088	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2172241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2201144	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2638244	0.89[JPT][hapmap]
rs2638268	0.89[JPT][hapmap]
rs2638270	0.94[JPT][hapmap]
rs2638271	0.89[JPT][hapmap]
rs2708426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708436	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2708437	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2708438	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2708441	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2723260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2723268	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2723269	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28365179	0.88[JPT][hapmap]
rs4473003	0.80[ASN][1000 genomes]
rs72644819	0.86[ASN][1000 genomes]
rs7310104	0.89[JPT][hapmap]
rs949640	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40603200-40605400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr12:40603800-40605400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:40604200-40609200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
5	chr12:40604400-40605000	Weak transcription	A549	lung
6	chr12:40604400-40605800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:40604400-40609400	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links