Variant report

Variant	rs652424
Chromosome Location	chr3:54745555-54745556
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	chr3:54736841..54738842-chr3:54744528..54747366,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1008187	1.00[YRI][hapmap]
rs11707823	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11711913	0.88[ASN][1000 genomes]
rs13095178	0.85[CEU][hapmap]
rs1346407	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2360021	0.96[CHB][hapmap];0.82[JPT][hapmap]
rs2360026	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs3732748	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4353779	0.87[CHB][hapmap]
rs4384925	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs515920	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs517729	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs517738	0.92[ASN][1000 genomes]
rs521694	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550210	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs578032	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs583190	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs587384	0.85[ASN][1000 genomes]
rs589281	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs604132	1.00[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs661201	0.85[JPT][hapmap]
rs6809466	0.96[CHB][hapmap];0.91[JPT][hapmap]
rs838022	0.91[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs934083	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014595	chr3:53944473-54846754	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv834700	chr3:54637374-54803896	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:54741600-54746400	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:54743800-54745800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:54743800-54751400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:54744800-54745600	Enhancers	Liver	Liver
5	chr3:54745200-54745600	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr3:54745200-54745600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr3:54745200-54747200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:54745200-54750200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:54745200-54751600	Weak transcription	H1 Cell Line	embryonic stem cell

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