Variant report

Variant	rs60002937
Chromosome Location	chr1:225133712-225133713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225117389..225119047-chr1:225133436..225135148,2	K562	blood:
2	chr1:225133403..225135871-chr1:225146349..225149223,2	K562	blood:
3	chr1:225133516..225138195-chr1:225140002..225143763,5	K562	blood:

Variant related genes	Relation type
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10915712	1.00[EUR][1000 genomes]
rs10915713	1.00[EUR][1000 genomes]
rs58883363	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59263273	1.00[EUR][1000 genomes]
rs59279645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59777302	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59930091	0.94[AFR][1000 genomes]
rs60489231	1.00[EUR][1000 genomes]
rs60846144	1.00[EUR][1000 genomes]
rs61564365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61732752	0.91[AFR][1000 genomes]
rs61745064	1.00[EUR][1000 genomes]
rs73127901	1.00[EUR][1000 genomes]
rs73129810	1.00[EUR][1000 genomes]
rs73129812	1.00[EUR][1000 genomes]
rs73129837	1.00[EUR][1000 genomes]
rs73129838	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129850	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129853	1.00[EUR][1000 genomes]
rs73129855	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129861	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129867	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73129870	1.00[EUR][1000 genomes]
rs73129894	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129898	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129900	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131704	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133542	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133544	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133577	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133578	1.00[EUR][1000 genomes]
rs73133591	1.00[EUR][1000 genomes]
rs73133599	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73133601	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7415021	0.91[AFR][1000 genomes]
rs7522229	1.00[EUR][1000 genomes]
rs7554589	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9659564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757773	chr1:225087924-225253274	Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv2759001	chr1:225087924-225253274	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005824	chr1:225114654-225158871	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3438976	chr1:225133567-225248753	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225133400-225134000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:225133400-225134000	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr1:225133400-225134200	ZNF genes & repeats	Pancreas	Pancrea
4	chr1:225133400-225134400	Active TSS	HepG2	liver
5	chr1:225133600-225156200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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