Variant report

Variant	rs10172020
Chromosome Location	chr2:56555581-56555582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10175691	0.83[CHB][hapmap]
rs10200604	0.92[CHB][hapmap]
rs10203280	1.00[CEU][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11125619	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125620	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125621	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11125622	1.00[CEU][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11886381	0.84[CHB][hapmap]
rs12233052	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12463587	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12465842	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12467246	0.81[ASN][1000 genomes]
rs13384655	0.81[CEU][hapmap]
rs13389344	0.83[CEU][hapmap];0.92[CHB][hapmap]
rs1549031	0.83[CEU][hapmap];0.92[CHB][hapmap]
rs17047781	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17047791	0.84[EUR][1000 genomes]
rs17047802	1.00[CEU][hapmap]
rs17047851	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs17047854	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs17047856	0.84[CHB][hapmap]
rs17268785	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs28456238	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28741029	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4671278	0.83[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4672106	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs4672107	0.83[CEU][hapmap]
rs4672109	1.00[CEU][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4672110	0.92[CHB][hapmap]
rs6545572	0.92[CHB][hapmap]
rs6545574	0.89[CHB][hapmap];0.82[JPT][hapmap]
rs6704684	0.92[CHB][hapmap];0.83[JPT][hapmap]
rs6732854	0.93[EUR][1000 genomes]
rs6735003	0.92[CHB][hapmap]
rs6747380	0.91[CHB][hapmap]
rs6748308	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs6760269	0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs72803034	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7355411	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs7562381	0.92[CHB][hapmap]
rs7566597	0.84[CEU][hapmap];1.00[CHB][hapmap]

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	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	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
3	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
4	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
5	nsv874171	chr2:56545845-56727178	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582032	chr2:56551074-56599354	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56527600-56561000	Weak transcription	HSMM	muscle
2	chr2:56552600-56555800	Enhancers	Fetal Heart	heart
3	chr2:56553400-56560400	Weak transcription	Left Ventricle	heart
4	chr2:56555400-56560800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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