Variant report

Variant	rs11724322
Chromosome Location	chr4:122697850-122697851
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122672244..122674867-chr4:122697032..122699058,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001092	0.86[EUR][1000 genomes]
rs10001697	0.87[EUR][1000 genomes]
rs10001889	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10004284	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10007956	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10012775	0.87[EUR][1000 genomes]
rs10013916	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10020581	0.87[EUR][1000 genomes]
rs10023020	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10024820	0.94[ASN][1000 genomes]
rs10024878	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10028375	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs10084948	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10212738	0.87[EUR][1000 genomes]
rs1048433	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11098640	0.87[EUR][1000 genomes]
rs11098641	0.86[EUR][1000 genomes]
rs11098643	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11732666	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11733882	0.94[ASN][1000 genomes]
rs11734075	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11934307	0.87[EUR][1000 genomes]
rs12510839	1.00[ASW][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13104233	0.87[EUR][1000 genomes]
rs13106764	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13108419	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13113338	0.83[EUR][1000 genomes]
rs13113421	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13114801	0.86[EUR][1000 genomes]
rs13117282	0.80[AFR][1000 genomes]
rs13119055	0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs13127488	0.81[CHB][hapmap];0.86[JPT][hapmap];0.80[AFR][1000 genomes]
rs13128434	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13130789	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13131003	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs13133876	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs13140070	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13143218	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs13145213	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[ASN][1000 genomes]
rs13145558	0.83[EUR][1000 genomes]
rs13151345	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs13152701	1.00[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1507993	0.86[JPT][hapmap]
rs17005256	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2271176	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs28394772	0.86[EUR][1000 genomes]
rs28435300	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28522256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28615388	0.87[EUR][1000 genomes]
rs28672860	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3217772	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs34445121	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35341163	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35495505	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3762840	0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3805158	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs3811742	0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4075065	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4075066	0.91[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4240262	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4240263	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4240264	1.00[ASW][hapmap];0.92[CEU][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4315813	0.87[EUR][1000 genomes]
rs4361412	0.83[EUR][1000 genomes]
rs4455438	0.87[EUR][1000 genomes]
rs4516738	0.86[EUR][1000 genomes]
rs4833232	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs4833233	0.81[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4833234	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833235	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833236	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4833769	0.87[EUR][1000 genomes]
rs4833770	0.87[EUR][1000 genomes]
rs4833771	1.00[YRI][hapmap]
rs4833773	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4833775	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5004355	0.97[ASN][1000 genomes]
rs67150579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67775544	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6811867	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6822155	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6827573	0.87[EUR][1000 genomes]
rs6830443	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6845901	0.94[ASN][1000 genomes]
rs7676867	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs769236	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7698889	0.87[EUR][1000 genomes]
rs7699289	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs884701	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs951974	1.00[ASW][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.80[AFR][1000 genomes]
rs953691	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs966555	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9993206	1.00[ASW][hapmap];0.96[CEU][hapmap];0.98[GIH][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9995319	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9995322	0.87[EUR][1000 genomes]
rs9998385	0.86[EUR][1000 genomes]
rs9998785	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9999362	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11724322	BBS7	cis	parietal	SCAN
rs11724322	BBS7	cis	cerebellum	SCAN
rs11724322	CCNA2	cis	lymphoblastoid	seeQTL
rs11724322	EXOSC9	cis	lymphoblastoid	seeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122695400-122705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:122695600-122698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122695600-122698800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:122696200-122698200	Weak transcription	Fetal Heart	heart
5	chr4:122697400-122699600	Enhancers	GM12878-XiMat	blood
6	chr4:122697600-122705600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:122697800-122698400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:122697800-122700600	Enhancers	NHDF-Ad	bronchial
9	chr4:122697800-122701400	Enhancers	Muscle Satellite Cultured Cells	--

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