Variant report

Variant	rs4728731
Chromosome Location	chr7:87717611-87717612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10234048	0.82[CEU][hapmap]
rs10234412	0.84[CEU][hapmap]
rs1023538	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10279744	0.82[CHB][hapmap]
rs10282572	0.82[CHB][hapmap]
rs10464571	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10952913	0.92[CEU][hapmap];0.90[YRI][hapmap]
rs11768853	0.84[AFR][1000 genomes]
rs11772873	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12535312	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12535365	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12537586	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12671587	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12673545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17150161	0.88[YRI][hapmap]
rs17339970	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008834	0.92[CEU][hapmap];0.90[YRI][hapmap]
rs2022555	0.90[YRI][hapmap]
rs2024018	0.90[YRI][hapmap]
rs2097918	0.92[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2158766	0.90[YRI][hapmap]
rs2237541	0.92[CEU][hapmap];0.90[YRI][hapmap]
rs2282951	0.89[CHB][hapmap]
rs2282955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282956	0.87[ASW][hapmap];0.92[CEU][hapmap];0.88[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2282957	0.82[CEU][hapmap]
rs2299198	0.84[AFR][1000 genomes]
rs2299199	0.89[CEU][hapmap]
rs2299200	0.92[CEU][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs2373487	0.89[YRI][hapmap]
rs3753103	0.92[CEU][hapmap];0.92[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs4442059	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4727151	0.81[CEU][hapmap]
rs55637099	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56399147	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62486404	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62486407	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62486409	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6951172	0.82[CEU][hapmap]
rs6955194	0.82[CEU][hapmap]
rs6955696	0.92[CEU][hapmap];1.00[YRI][hapmap]
rs6958024	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6968026	0.82[CEU][hapmap]
rs7777040	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793308	0.92[CEU][hapmap];0.90[YRI][hapmap]
rs7799148	0.93[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9632709	0.82[CEU][hapmap]

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	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv525073	chr7:87535096-87812968	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4728731	ADAM22	cis	Muscle Skeletal	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87703000-87718800	Weak transcription	Brain Angular Gyrus	brain
2	chr7:87706800-87718600	Weak transcription	Dnd41	blood
3	chr7:87707600-87718800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:87717200-87717800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:87717400-87718000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:87717400-87718200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:87717600-87717800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr7:87717600-87717800	Enhancers	Fetal Brain Male	brain
9	chr7:87717600-87717800	Enhancers	Fetal Muscle Leg	muscle
10	chr7:87717600-87718200	Enhancers	Fetal Lung	lung
11	chr7:87717600-87718800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links