Variant report

Variant	rs2301998
Chromosome Location	chr7:87745903-87745904
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87745056..87747842-chr7:87752762..87754623,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10227241	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10229877	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234048	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10234412	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10272494	0.87[ASN][1000 genomes]
rs10281274	0.96[ASN][1000 genomes]
rs10952910	0.89[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10952911	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10952913	0.82[CEU][hapmap]
rs10952914	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11770825	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540117	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12670301	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13245213	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2008834	0.82[CEU][hapmap]
rs2008840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237540	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2237541	0.82[CEU][hapmap]
rs2282956	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs2282957	0.93[CEU][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2299199	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2299200	0.82[CEU][hapmap]
rs3753103	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs3753105	0.87[EUR][1000 genomes]
rs3753106	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4727151	0.93[CEU][hapmap];0.90[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4727152	0.96[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61598739	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62486408	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6465129	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6951172	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6955194	0.93[CEU][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6955696	0.84[CEU][hapmap]
rs6964103	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6968026	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6971348	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs726328	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7793051	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9632709	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9641023	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691240	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	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
rs2301998	ADAM22	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87741200-87782600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:87743000-87746800	Weak transcription	Fetal Stomach	stomach
3	chr7:87743400-87761800	Weak transcription	GM12878-XiMat	blood
4	chr7:87744400-87747600	Enhancers	Fetal Lung	lung
5	chr7:87745000-87746000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87745000-87756600	Weak transcription	Fetal Intestine Small	intestine
7	chr7:87745200-87746000	Enhancers	NHDF-Ad	bronchial
8	chr7:87745200-87747000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:87745600-87746000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:87745800-87746200	Enhancers	Adipose Nuclei	Adipose
11	chr7:87745800-87746400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:87745800-87747000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:87745800-87749400	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links