Variant report

Variant	rs506223
Chromosome Location	chr11:56619036-56619037
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56618059..56620569-chr11:56629242..56631002,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12574906	0.85[AFR][1000 genomes]
rs1792515	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1943650	0.85[AFR][1000 genomes]
rs479697	0.91[EUR][1000 genomes]
rs509244	0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs513618	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs514165	0.85[CEU][hapmap]
rs522662	0.90[EUR][1000 genomes]
rs540638	0.96[CEU][hapmap];0.85[JPT][hapmap]
rs554574	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs556870	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs561116	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs564653	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs564841	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56915444	0.85[AFR][1000 genomes]
rs596396	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs597733	1.00[CEU][hapmap];0.86[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs624598	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs626464	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644549	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6591386	0.86[EUR][1000 genomes]
rs7117250	0.87[EUR][1000 genomes]
rs764855	0.83[AFR][1000 genomes]
rs7928781	0.85[AFR][1000 genomes]
rs7939427	0.94[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048328	chr11:56471984-56649908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv2830406	chr11:56481955-56650124	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56614400-56621400	Weak transcription	Stomach Mucosa	stomach
2	chr11:56617600-56619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:56617600-56619600	Weak transcription	NHEK	skin
4	chr11:56617800-56619400	Weak transcription	HMEC	breast
5	chr11:56617800-56619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:56617800-56619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:56618200-56620200	ZNF genes & repeats	A549	lung
8	chr11:56618800-56626600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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