Variant report

Variant	rs1252617
Chromosome Location	chr2:30621909-30621910
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	chr2:30618571..30622789-chr2:30622802..30626896,4	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10514770	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11127273	0.81[EUR][1000 genomes]
rs1252616	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1252618	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12993465	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13000021	0.81[EUR][1000 genomes]
rs13012193	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033921	0.81[EUR][1000 genomes]
rs2030744	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35909231	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4519571	0.80[EUR][1000 genomes]
rs6548013	0.81[EUR][1000 genomes]
rs7572690	0.81[EUR][1000 genomes]
rs7583194	0.83[EUR][1000 genomes]
rs7583844	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593766	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829588	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs829590	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs829610	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829611	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829612	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829613	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs829614	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9917125	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3459512	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3459513	chr2:30615052-30627922	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv11669	chr2:30615374-30627773	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763638	chr2:30615651-30627654	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30619000-30624800	Weak transcription	Fetal Heart	heart
2	chr2:30619400-30637200	Enhancers	Fetal Stomach	stomach
3	chr2:30619600-30623600	Weak transcription	Right Ventricle	heart
4	chr2:30620600-30624000	Weak transcription	Right Atrium	heart
5	chr2:30620600-30625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:30621200-30622800	Weak transcription	Pancreas	Pancrea
7	chr2:30621400-30623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:30621400-30630400	Weak transcription	Aorta	Aorta
9	chr2:30621600-30622800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:30621600-30626000	Weak transcription	Fetal Lung	lung
11	chr2:30621800-30626000	Weak transcription	Left Ventricle	heart
12	chr2:30621800-30626600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:30621800-30626600	Weak transcription	Ovary	ovary
14	chr2:30621800-30627000	Weak transcription	NHDF-Ad	bronchial

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