Variant report

Variant	rs134590
Chromosome Location	chr22:29466825-29466826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs126077	0.84[EUR][1000 genomes]
rs134566	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134570	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134580	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134581	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134583	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134585	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134587	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134593	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134597	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134611	1.00[ASN][1000 genomes]
rs134614	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134615	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134618	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134627	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134642	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134646	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134647	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134649	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134651	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134652	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134655	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134661	0.95[ASN][1000 genomes]
rs134662	0.95[ASN][1000 genomes]
rs134665	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs134678	0.84[EUR][1000 genomes]
rs134679	0.83[EUR][1000 genomes]
rs134680	0.84[EUR][1000 genomes]
rs134683	0.84[EUR][1000 genomes]
rs134684	0.83[EUR][1000 genomes]
rs134686	0.83[EUR][1000 genomes]
rs134688	0.84[EUR][1000 genomes]
rs134689	0.84[EUR][1000 genomes]
rs134690	0.84[EUR][1000 genomes]
rs134691	0.84[EUR][1000 genomes]
rs1978046	0.85[EUR][1000 genomes]
rs2049937	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2049938	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4823015	0.82[EUR][1000 genomes]
rs5752870	0.81[EUR][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
rs134590	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29451800-29467000	Weak transcription	Ovary	ovary
2	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr22:29463800-29468400	Weak transcription	Dnd41	blood
6	chr22:29465000-29467400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr22:29465200-29467000	Enhancers	Fetal Intestine Small	intestine
8	chr22:29465400-29467400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr22:29465600-29467000	Enhancers	Fetal Intestine Large	intestine
10	chr22:29465600-29467200	Enhancers	K562	blood
11	chr22:29465800-29467400	Weak transcription	Psoas Muscle	Psoas
12	chr22:29465800-29467800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29465800-29468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29466000-29467000	Weak transcription	Fetal Heart	heart
15	chr22:29466200-29467200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:29466200-29467200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr22:29466400-29467000	Enhancers	Duodenum Mucosa	Duodenum
18	chr22:29466400-29467200	Weak transcription	Left Ventricle	heart
19	chr22:29466400-29467200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr22:29466400-29467200	Bivalent Enhancer	Thymus	Thymus
21	chr22:29466400-29467400	Bivalent Enhancer	Fetal Thymus	thymus
22	chr22:29466400-29467800	Enhancers	Placenta	Placenta
23	chr22:29466600-29467000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:29466600-29467000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:29466600-29467000	Enhancers	NHEK	skin
26	chr22:29466600-29467200	Enhancers	HMEC	breast
27	chr22:29466600-29467400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:29466600-29467800	Enhancers	Stomach Mucosa	stomach
29	chr22:29466600-29468200	Enhancers	Esophagus	oesophagus
30	chr22:29466800-29467000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr22:29466800-29467200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
32	chr22:29466800-29467400	Flanking Active TSS	HepG2	liver
33	chr22:29466800-29467600	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr22:29466800-29468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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