Variant report

Variant	rs7558482
Chromosome Location	chr2:178765492-178765493
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178763789..178767498-chr2:178770691..178773361,4	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10201731	0.81[ASN][1000 genomes]
rs11899873	0.85[ASN][1000 genomes]
rs12618253	0.82[ASN][1000 genomes]
rs13018609	0.84[ASN][1000 genomes]
rs13021998	0.82[ASN][1000 genomes]
rs1405649	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16865791	0.87[AMR][1000 genomes]
rs16865819	0.84[ASN][1000 genomes]
rs16865921	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17329531	0.86[ASN][1000 genomes]
rs1946812	0.83[AMR][1000 genomes]
rs2083156	0.82[ASN][1000 genomes]
rs3108451	0.87[ASN][1000 genomes]
rs34365395	0.84[ASN][1000 genomes]
rs35873373	0.84[ASN][1000 genomes]
rs3770050	0.87[AMR][1000 genomes]
rs3770054	0.84[ASN][1000 genomes]
rs56748987	0.82[ASN][1000 genomes]
rs57157809	0.83[AMR][1000 genomes]
rs58442170	0.83[AMR][1000 genomes]
rs58585905	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60097472	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61190950	0.87[AMR][1000 genomes]
rs71423509	0.82[ASN][1000 genomes]
rs73034255	0.87[AMR][1000 genomes]
rs73034264	0.83[AMR][1000 genomes]
rs73034271	0.83[AMR][1000 genomes]
rs73034272	0.83[AMR][1000 genomes]
rs73034273	0.87[AMR][1000 genomes]
rs73034286	0.83[AMR][1000 genomes]
rs73034288	0.87[AMR][1000 genomes]
rs73034292	0.87[AMR][1000 genomes]
rs73036088	0.87[AMR][1000 genomes]
rs73036090	0.87[AMR][1000 genomes]
rs73036091	0.87[AMR][1000 genomes]
rs753346	0.82[ASN][1000 genomes]
rs7570981	0.84[ASN][1000 genomes]
rs7592459	0.82[ASN][1000 genomes]
rs7595421	0.82[ASN][1000 genomes]
rs7609487	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2756313	chr2:178750158-178768683	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2754225	chr2:178750493-178768493	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr2:178755200-178767400	Weak transcription	Right Atrium	heart
2	chr2:178761600-178767200	Weak transcription	Stomach Mucosa	stomach
3	chr2:178762400-178770400	Weak transcription	Pancreas	Pancrea
4	chr2:178762600-178772600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:178765000-178766600	Enhancers	NHEK	skin
6	chr2:178765200-178765800	Enhancers	HMEC	breast

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