Variant report

Variant	rs7605091
Chromosome Location	chr2:178635553-178635554
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178628572..178630202-chr2:178634599..178638462,3	K562	blood:
2	chr2:178626024..178627917-chr2:178634127..178636580,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10178473	0.83[ASN][1000 genomes]
rs10178858	0.83[ASN][1000 genomes]
rs10178916	0.83[ASN][1000 genomes]
rs10179500	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs10182017	0.87[ASN][1000 genomes]
rs10182353	0.82[ASN][1000 genomes]
rs10185318	0.81[ASN][1000 genomes]
rs13395965	0.87[ASN][1000 genomes]
rs13396065	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs13396537	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs13421315	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421345	0.87[ASN][1000 genomes]
rs13421415	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438040	0.84[ASN][1000 genomes]
rs1438042	0.87[ASN][1000 genomes]
rs1530035	0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1530036	0.96[ASN][1000 genomes]
rs17400505	0.84[JPT][hapmap]
rs28380215	0.82[ASN][1000 genomes]
rs3754996	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs3770036	0.89[ASN][1000 genomes]
rs3770044	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3770045	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4297923	0.84[ASN][1000 genomes]
rs4464321	0.82[ASN][1000 genomes]
rs56314683	0.87[ASN][1000 genomes]
rs56690966	0.87[ASN][1000 genomes]
rs57342997	0.87[ASN][1000 genomes]
rs6433694	0.86[CHB][hapmap];0.85[ASN][1000 genomes]
rs6706739	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709966	0.87[ASN][1000 genomes]
rs6714147	0.86[CHB][hapmap]
rs6718100	0.85[ASN][1000 genomes]
rs6718657	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs6718860	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs6718993	0.86[ASN][1000 genomes]
rs6726253	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs6726502	0.87[ASN][1000 genomes]
rs6733980	0.84[ASN][1000 genomes]
rs6735387	0.96[ASN][1000 genomes]
rs6737872	0.86[CHB][hapmap]
rs6743821	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs6751656	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs6752264	0.87[ASN][1000 genomes]
rs6758508	0.86[ASN][1000 genomes]
rs7563242	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7605091	FKBP7	cis	parietal	SCAN
rs7605091	SESTD1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178628600-178636000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:178628600-178636000	Weak transcription	NHEK	skin
3	chr2:178634600-178637400	Enhancers	HMEC	breast
4	chr2:178634800-178637200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:178635000-178637400	Enhancers	HepG2	liver
6	chr2:178635200-178636400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:178635400-178635800	Enhancers	Fetal Kidney	kidney

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