Variant report

Variant	rs134580
Chromosome Location	chr22:29464559-29464560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29464232..29466392-chr22:29545552..29548185,2	K562	blood:
2	chr22:29460513..29462315-chr22:29463716..29465487,2	MCF-7	breast:
3	chr22:29461925..29465373-chr22:29467128..29469603,3	K562	blood:
4	chr22:29461478..29465218-chr22:29467566..29469603,3	K562	blood:
5	chr22:29446612..29448382-chr22:29463613..29465262,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183762	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs134566	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134570	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134581	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134583	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134585	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134587	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134589	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134590	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134591	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134593	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134597	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134611	1.00[ASN][1000 genomes]
rs134614	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134615	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134618	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs134627	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134642	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134646	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134647	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134649	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134651	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134652	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs134655	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134661	0.95[ASN][1000 genomes]
rs134662	0.95[ASN][1000 genomes]
rs134665	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1978046	0.81[EUR][1000 genomes]
rs2049937	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2049938	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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
rs134580	KREMEN1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:16 , 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	chr22:29462200-29467800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:29462400-29465000	Weak transcription	HepG2	liver
8	chr22:29462400-29465800	Weak transcription	Thymus	Thymus
9	chr22:29462400-29467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr22:29462400-29467800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:29462600-29465000	Weak transcription	Fetal Thymus	thymus
12	chr22:29463800-29465000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr22:29463800-29468400	Weak transcription	Dnd41	blood
14	chr22:29464000-29465000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:29464000-29465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr22:29464200-29465400	Enhancers	Fetal Muscle Leg	muscle

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