Variant report

Variant	rs134583
Chromosome Location	chr22:29465677-29465678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29464232..29466392-chr22:29545552..29548185,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs126077	0.92[CEU][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs134566	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134570	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134580	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134581	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134585	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134587	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134589	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134590	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134591	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134593	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134611	1.00[ASN][1000 genomes]
rs134614	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134615	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134618	0.95[ASN][1000 genomes]
rs134627	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134642	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134646	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134647	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134649	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134651	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134652	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134655	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134661	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs134662	0.95[ASN][1000 genomes]
rs134665	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs134678	0.96[CEU][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs134679	0.80[EUR][1000 genomes]
rs134680	0.81[EUR][1000 genomes]
rs134683	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs134684	0.80[EUR][1000 genomes]
rs134686	0.80[EUR][1000 genomes]
rs134688	0.89[CEU][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs134689	0.89[CEU][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs134690	0.81[EUR][1000 genomes]
rs134691	0.81[EUR][1000 genomes]
rs1978046	0.83[EUR][1000 genomes]
rs2049937	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2049938	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5752870	0.85[CEU][hapmap];0.85[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs134583	KREMEN1	cis	multi-tissue	Pritchard
rs134583	ZNF70	cis	parietal	SCAN
rs134583	KREMEN1	cis	Heart Left Ventricle	GTEx
rs134583	SLC35E4	cis	cerebellum	SCAN
rs134583	ZNRF3	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29451800-29467000	Weak transcription	Ovary	ovary
2	chr22:29458600-29466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr22:29462400-29465800	Weak transcription	Thymus	Thymus
5	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr22:29463800-29468400	Weak transcription	Dnd41	blood
8	chr22:29465000-29466400	Enhancers	Fetal Thymus	thymus
9	chr22:29465000-29466600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr22:29465000-29466800	Enhancers	HepG2	liver
11	chr22:29465000-29467400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr22:29465200-29465800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29465200-29466000	Enhancers	Fetal Heart	heart
14	chr22:29465200-29467000	Enhancers	Fetal Intestine Small	intestine
15	chr22:29465400-29465800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29465400-29465800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:29465400-29465800	Enhancers	Psoas Muscle	Psoas
18	chr22:29465400-29466400	Enhancers	Left Ventricle	heart
19	chr22:29465400-29467400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr22:29465600-29467000	Enhancers	Fetal Intestine Large	intestine
21	chr22:29465600-29467200	Enhancers	K562	blood

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