Variant report

Variant	rs5762629
Chromosome Location	chr22:28845279-28845280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1125250	0.87[CEU][hapmap]
rs1303845	0.83[CEU][hapmap]
rs134489	0.83[CEU][hapmap]
rs134500	0.84[CEU][hapmap]
rs134507	0.83[CEU][hapmap]
rs134529	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs134541	0.83[CEU][hapmap]
rs134543	0.83[CEU][hapmap]
rs134545	0.89[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs134548	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs17503350	0.80[CEU][hapmap]
rs1807603	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1986052	0.82[EUR][1000 genomes]
rs2145161	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2180460	0.91[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs5752745	0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs5752763	0.86[ASN][1000 genomes]
rs5752764	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs5762586	0.85[ASN][1000 genomes]
rs5762665	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs5762680	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762683	0.86[ASN][1000 genomes]
rs5762694	0.80[ASN][1000 genomes]
rs5762730	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs5762737	0.83[ASN][1000 genomes]
rs6005795	0.87[EUR][1000 genomes]
rs695439	0.87[AMR][1000 genomes]
rs695591	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs695625	0.83[CEU][hapmap];0.85[AMR][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	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	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28839800-28861200	Weak transcription	Ovary	ovary
2	chr22:28840000-28847000	Weak transcription	Fetal Lung	lung
3	chr22:28840000-28849600	Weak transcription	Fetal Brain Male	brain
4	chr22:28841200-28845800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr22:28842600-28849600	Weak transcription	Psoas Muscle	Psoas
6	chr22:28844200-28846000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:28844600-28845400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:28844600-28845400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:28844600-28845400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr22:28844600-28845400	Enhancers	Fetal Intestine Large	intestine
11	chr22:28844600-28845400	Enhancers	K562	blood
12	chr22:28844600-28845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr22:28844600-28846000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:28844800-28846000	Enhancers	HUVEC	blood vessel
15	chr22:28845200-28845400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr22:28845200-28845400	Enhancers	Fetal Brain Female	brain
17	chr22:28845200-28846800	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links