Variant report

Variant	rs35495505
Chromosome Location	chr4:122798413-122798414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122796809..122798551-chr4:122802231..122805144,2	K562	blood:
2	chr4:122791129..122793234-chr4:122797692..122800244,3	K562	blood:
3	chr4:122791424..122794162-chr4:122797807..122800885,3	K562	blood:

Variant related genes	Relation type
ENSG00000138686	Chromatin interaction
ENSG00000261501	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10001889	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10004284	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10007956	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10013916	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10023020	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10024820	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10024878	0.89[AFR][1000 genomes]
rs10028375	0.95[AFR][1000 genomes]
rs10084948	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1048433	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11098643	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11724322	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11732666	0.84[ASN][1000 genomes]
rs11733882	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11734075	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12510839	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13106764	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13108360	0.85[ASN][1000 genomes]
rs13108419	1.00[AFR][1000 genomes]
rs13113338	0.80[AFR][1000 genomes]
rs13113421	1.00[AFR][1000 genomes]
rs13117282	0.89[AFR][1000 genomes]
rs13119055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13119958	0.83[ASN][1000 genomes]
rs13121963	0.85[ASN][1000 genomes]
rs13127488	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs13128434	1.00[AFR][1000 genomes]
rs13130789	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13133876	0.85[ASN][1000 genomes]
rs13138774	0.83[ASN][1000 genomes]
rs13140070	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13143218	0.84[ASN][1000 genomes]
rs13145213	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13145558	0.85[AFR][1000 genomes]
rs13152701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17005256	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271176	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28435300	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28522256	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28672860	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3217772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34445121	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs35341163	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3805158	0.83[ASN][1000 genomes]
rs3811742	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4075065	1.00[AFR][1000 genomes]
rs4075066	1.00[AFR][1000 genomes]
rs4240262	1.00[AFR][1000 genomes]
rs4240263	1.00[AFR][1000 genomes]
rs4240264	1.00[AFR][1000 genomes]
rs4833232	1.00[AFR][1000 genomes]
rs4833233	0.85[ASN][1000 genomes]
rs4833234	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4833235	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4833236	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833773	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4833775	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4833777	0.84[ASN][1000 genomes]
rs5004355	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67150579	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs67775544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6811867	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6822155	1.00[AFR][1000 genomes]
rs6828650	0.80[AFR][1000 genomes]
rs6830443	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6845901	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7676867	0.95[AFR][1000 genomes]
rs769236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699289	1.00[AFR][1000 genomes]
rs884701	0.83[ASN][1000 genomes]
rs951974	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs966555	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9993206	1.00[AFR][1000 genomes]
rs9995319	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9998785	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9999362	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs35495505	CCNA2	Cis_1M	lymphoblastoid	RTeQTL
rs35495505	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL
rs35495505	CCNA2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122792400-122802000	Weak transcription	Fetal Lung	lung
2	chr4:122797600-122798800	Enhancers	NHDF-Ad	bronchial
3	chr4:122798000-122798800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:122798200-122798600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:122798200-122798800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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