Variant report

Variant	rs17047781
Chromosome Location	chr2:56539457-56539458
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56535064..56538835-chr2:56538969..56542795,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10172020	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10203280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11125619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11125620	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11125621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11125622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12233052	0.92[EUR][1000 genomes]
rs12463587	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12465842	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13384655	0.84[CEU][hapmap]
rs13389344	0.85[CEU][hapmap]
rs1549031	0.85[CEU][hapmap]
rs17047791	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17047802	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs28456238	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28741029	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671278	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4672106	0.86[CEU][hapmap]
rs4672107	0.85[CEU][hapmap]
rs4672109	1.00[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732854	0.94[EUR][1000 genomes]
rs6748308	0.86[JPT][hapmap]
rs6760269	0.90[JPT][hapmap]
rs72803034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7355411	0.85[CEU][hapmap]
rs7566597	0.86[CEU][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	nsv530516	chr2:56447922-56633505	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv522006	chr2:56496589-56545845	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv874170	chr2:56496589-56590865	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv834093	chr2:56538097-56708677	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004449	chr2:56538460-56715861	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527400-56540600	Weak transcription	Left Ventricle	heart
2	chr2:56527400-56547400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:56527600-56561000	Weak transcription	HSMM	muscle
4	chr2:56537000-56541200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:56537400-56540400	Weak transcription	Fetal Intestine Large	intestine
6	chr2:56537600-56540600	Weak transcription	Psoas Muscle	Psoas
7	chr2:56537800-56540600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:56537800-56541600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:56538600-56540400	Weak transcription	Adipose Nuclei	Adipose

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