Variant report

Variant	rs4722731
Chromosome Location	chr7:27750024-27750025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27748144..27751771-chr7:27755375..27758191,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10249314	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1029604	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10486560	0.88[YRI][hapmap]
rs11540483	0.95[EUR][1000 genomes]
rs11761718	0.80[CEU][hapmap]
rs11761773	1.00[CEU][hapmap]
rs11762056	0.80[CEU][hapmap]
rs11764419	0.80[CEU][hapmap]
rs11764624	0.80[CEU][hapmap]
rs11772163	0.80[CEU][hapmap]
rs11981473	0.86[AFR][1000 genomes]
rs1468443	0.97[EUR][1000 genomes]
rs17155661	0.94[AFR][1000 genomes]
rs17155671	0.94[AFR][1000 genomes]
rs17155769	0.89[YRI][hapmap]
rs17155774	0.89[YRI][hapmap]
rs17155818	0.88[YRI][hapmap]
rs17607303	0.80[CEU][hapmap]
rs17680908	0.80[CEU][hapmap]
rs17683094	0.80[CEU][hapmap]
rs2158892	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs42090	0.80[CEU][hapmap]
rs42093	0.80[CEU][hapmap]
rs42097	0.80[CEU][hapmap]
rs4299908	0.88[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4719905	0.97[EUR][1000 genomes]
rs4722736	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs4722738	0.97[EUR][1000 genomes]
rs56070801	0.86[EUR][1000 genomes]
rs57355732	0.94[AFR][1000 genomes]
rs60426718	0.87[EUR][1000 genomes]
rs6462044	1.00[EUR][1000 genomes]
rs6462045	1.00[EUR][1000 genomes]
rs6942560	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6952476	0.88[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6958646	0.94[AFR][1000 genomes]
rs6960451	1.00[EUR][1000 genomes]
rs6969516	0.97[EUR][1000 genomes]
rs6970160	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs73073375	0.95[EUR][1000 genomes]
rs73073377	0.95[EUR][1000 genomes]
rs73073379	0.93[EUR][1000 genomes]
rs73073380	0.95[EUR][1000 genomes]
rs73073387	0.93[EUR][1000 genomes]
rs73073388	0.93[EUR][1000 genomes]
rs73073393	0.95[EUR][1000 genomes]
rs73075307	0.95[EUR][1000 genomes]
rs73075310	0.95[EUR][1000 genomes]
rs73075311	0.95[EUR][1000 genomes]
rs73075322	0.95[EUR][1000 genomes]
rs73075325	0.95[EUR][1000 genomes]
rs73075329	0.90[EUR][1000 genomes]
rs73075331	0.90[EUR][1000 genomes]
rs73075354	0.90[EUR][1000 genomes]
rs73075359	0.90[EUR][1000 genomes]
rs73075361	0.87[EUR][1000 genomes]
rs73075375	0.87[EUR][1000 genomes]
rs73075378	0.87[EUR][1000 genomes]
rs73078776	0.95[EUR][1000 genomes]
rs73078778	0.95[EUR][1000 genomes]
rs73083352	0.83[EUR][1000 genomes]
rs73293835	0.94[AFR][1000 genomes]
rs73293838	0.94[AFR][1000 genomes]
rs73293842	0.94[AFR][1000 genomes]
rs73293856	0.94[AFR][1000 genomes]
rs73293862	0.93[AFR][1000 genomes]
rs73293868	0.91[AFR][1000 genomes]
rs73293882	0.88[AFR][1000 genomes]
rs73293888	0.86[AFR][1000 genomes]
rs73293893	0.88[AFR][1000 genomes]
rs7790914	1.00[CEU][hapmap]
rs7795207	0.80[CEU][hapmap]
rs7803672	0.95[LWK][hapmap];0.89[YRI][hapmap]
rs7807729	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4722731	HIBADH	cis	parietal	SCAN
rs4722731	ZNRF2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27748600-27750200	Enhancers	NHDF-Ad	bronchial
2	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:27749000-27750200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:27749000-27750200	Enhancers	K562	blood
5	chr7:27749400-27750200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:27749400-27755000	Weak transcription	Small Intestine	intestine
7	chr7:27749600-27754400	Weak transcription	HMEC	breast
8	chr7:27749800-27751200	Weak transcription	HepG2	liver
9	chr7:27749800-27754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:27750000-27753800	Weak transcription	HUVEC	blood vessel
11	chr7:27750000-27754200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:27750000-27754200	Weak transcription	NH-A	brain
13	chr7:27750000-27754400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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