Variant report

Variant	rs7510988
Chromosome Location	chr22:28580269-28580270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12157518	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs12160232	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs16986103	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16986290	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16986377	0.90[ASN][1000 genomes]
rs2345714	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28462248	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs55961693	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs5752707	0.81[AFR][1000 genomes]
rs5762534	1.00[YRI][hapmap]
rs5997341	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997355	0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs5997363	0.86[ASN][1000 genomes]
rs5997365	0.90[ASN][1000 genomes]
rs5997367	0.90[ASN][1000 genomes]
rs6005697	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[ASN][1000 genomes]
rs6005724	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005726	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005733	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005735	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005746	0.82[AFR][1000 genomes]
rs6005751	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005757	0.90[ASN][1000 genomes]
rs6005758	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005765	0.95[ASN][1000 genomes]
rs6005779	0.88[ASN][1000 genomes]
rs73427747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73428082	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28570000-28581000	Weak transcription	Fetal Intestine Small	intestine
2	chr22:28572200-28597800	Weak transcription	Dnd41	blood
3	chr22:28577000-28603600	Weak transcription	Aorta	Aorta
4	chr22:28577400-28584600	Weak transcription	Fetal Brain Female	brain
5	chr22:28577800-28600400	Weak transcription	Right Atrium	heart
6	chr22:28578000-28583200	Weak transcription	Fetal Brain Male	brain
7	chr22:28578400-28583600	Weak transcription	Fetal Muscle Leg	muscle
8	chr22:28578400-28583800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr22:28579200-28581800	Enhancers	Duodenum Mucosa	Duodenum
10	chr22:28579600-28580800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:28579600-28584600	Weak transcription	Psoas Muscle	Psoas
12	chr22:28579600-28587400	Weak transcription	Lung	lung
13	chr22:28580000-28580400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr22:28580200-28580400	Enhancers	Brain Germinal Matrix	brain
15	chr22:28580200-28582800	Weak transcription	Fetal Heart	heart
16	chr22:28580200-28583600	Weak transcription	Fetal Lung	lung

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