Variant report

Variant	rs283052
Chromosome Location	chr6:118668138-118668139
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	chr6:118666316..118669235-chr6:118671281..118673875,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1690673	0.92[EUR][1000 genomes]
rs17079862	0.87[CEU][hapmap]
rs172212	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs176014	0.87[CEU][hapmap]
rs1761631	0.91[ASN][1000 genomes]
rs1874082	0.88[AMR][1000 genomes]
rs190756	0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1923282	0.86[CEU][hapmap];0.83[CHB][hapmap]
rs2501470	0.93[ASN][1000 genomes]
rs281866	0.83[CEU][hapmap];0.85[CHB][hapmap]
rs281869	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs281872	0.87[CEU][hapmap];0.85[CHB][hapmap]
rs283047	0.89[AMR][1000 genomes]
rs283051	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs283053	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283054	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283055	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs283061	0.89[AMR][1000 genomes]
rs283067	0.89[AMR][1000 genomes]
rs283083	0.91[CEU][hapmap]
rs2883849	0.95[CEU][hapmap];0.84[CHB][hapmap]
rs387266	0.89[AMR][1000 genomes]
rs413876	0.91[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes]
rs427027	0.86[CEU][hapmap];0.89[CHB][hapmap]
rs450093	0.87[CEU][hapmap];0.84[CHB][hapmap];0.88[AMR][1000 genomes]
rs4945618	0.87[CEU][hapmap];0.80[CHB][hapmap]
rs4945621	0.92[ASN][1000 genomes]
rs4946339	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4946343	0.81[EUR][1000 genomes]
rs9320646	0.91[CEU][hapmap];0.85[CHB][hapmap]
rs937277	0.91[ASN][1000 genomes]
rs9385038	0.91[CEU][hapmap];0.84[CHB][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv604554	chr6:118631282-118716318	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118657000-118672800	Weak transcription	Psoas Muscle	Psoas
2	chr6:118657200-118672600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:118664000-118674600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:118665400-118669200	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:118665600-118668400	Weak transcription	Primary T cells from cord blood	blood
6	chr6:118667800-118668200	Enhancers	Stomach Smooth Muscle	stomach

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