Variant report

Variant	rs11685529
Chromosome Location	chr2:47338962-47338963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47337263..47338968-chr2:47402597..47405021,2	K562	blood:
2	chr2:47337732..47340513-chr2:47388234..47390439,2	MCF-7	breast:
3	chr2:47337468..47344028-chr2:47400854..47405021,7	K562	blood:
4	chr2:47338160..47340323-chr2:47341324..47344297,3	K562	blood:

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10210315	1.00[CEU][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11680835	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1404771	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1534110	1.00[CHB][hapmap]
rs1693869	1.00[CHB][hapmap]
rs1723493	1.00[CHB][hapmap]
rs1880583	0.88[JPT][hapmap]
rs2347606	0.83[AMR][1000 genomes]
rs2347609	0.81[ASN][1000 genomes]
rs2347612	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2347615	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2881677	0.81[ASN][1000 genomes]
rs4429519	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4953466	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6544959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6544963	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6719888	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs815807	1.00[CHB][hapmap]
rs815808	0.84[CHB][hapmap]
rs815809	0.84[CHB][hapmap]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47336000-47340000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:47338200-47339400	Enhancers	Fetal Heart	heart

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