Variant report

Variant	rs134567
Chromosome Location	chr22:29463221-29463222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29461925..29465373-chr22:29467128..29469603,3	K562	blood:
2	chr22:29461478..29465218-chr22:29467566..29469603,3	K562	blood:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs134561	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134569	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134579	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134594	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134599	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134600	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs134601	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134602	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134603	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134604	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134605	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs134607	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134609	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134613	0.83[EUR][1000 genomes]
rs134619	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134620	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134621	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134623	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134624	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134625	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134626	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134629	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134630	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134632	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134635	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134637	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134638	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134639	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs134645	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs20037	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2049939	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5762980	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs783	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs134567	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29451800-29465200	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29451800-29467000	Weak transcription	Ovary	ovary
3	chr22:29455800-29465600	Weak transcription	K562	blood
4	chr22:29458600-29466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29459000-29465400	Weak transcription	Psoas Muscle	Psoas
6	chr22:29461000-29463800	Enhancers	Dnd41	blood
7	chr22:29461200-29464000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr22:29461400-29464000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:29462400-29465000	Weak transcription	HepG2	liver
11	chr22:29462400-29465800	Weak transcription	Thymus	Thymus
12	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr22:29462600-29465000	Weak transcription	Fetal Thymus	thymus
15	chr22:29462800-29464200	Bivalent Enhancer	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links