Variant report

Variant	rs4722736
Chromosome Location	chr7:27770119-27770120
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27751979..27753711-chr7:27767653..27770152,2	MCF-7	breast:
2	chr7:27768892..27770832-chr7:27772047..27773874,2	K562	blood:
3	chr7:27763575..27766795-chr7:27768308..27771533,3	K562	blood:
4	chr7:27769469..27771937-chr7:27776891..27779801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10249314	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1029604	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540483	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11761718	0.80[CEU][hapmap]
rs11761773	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs11762056	0.80[CEU][hapmap]
rs11764419	0.80[CEU][hapmap]
rs11764624	0.80[CEU][hapmap]
rs11772163	0.80[CEU][hapmap]
rs1468443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17607303	0.80[CEU][hapmap]
rs17680908	0.80[CEU][hapmap];1.00[AFR][1000 genomes]
rs17683094	0.80[CEU][hapmap]
rs215	1.00[ASW][hapmap]
rs2158892	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs42090	0.80[CEU][hapmap];0.83[AMR][1000 genomes]
rs42093	0.80[CEU][hapmap]
rs42097	0.80[CEU][hapmap]
rs42114	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4719905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4722731	0.97[EUR][1000 genomes]
rs4722738	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070801	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60426718	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62454852	1.00[AFR][1000 genomes]
rs62454853	1.00[AFR][1000 genomes]
rs62454911	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62454912	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62454913	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62456949	1.00[AFR][1000 genomes]
rs6462044	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6462045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6946582	1.00[AFR][1000 genomes]
rs6960451	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6969516	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6970160	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073375	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073377	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073379	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073380	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73073387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073388	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73073393	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075112	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73075307	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075310	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075311	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075322	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075325	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73075329	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075331	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075354	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075359	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73075361	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075375	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73075378	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73078776	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73078778	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73083352	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73083361	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73083363	0.85[AMR][1000 genomes]
rs73083364	0.85[AMR][1000 genomes]
rs73083371	0.85[AMR][1000 genomes]
rs73083377	0.85[AMR][1000 genomes]
rs73083378	0.85[AMR][1000 genomes]
rs7790914	1.00[CEU][hapmap]
rs7795207	0.80[CEU][hapmap];1.00[AFR][1000 genomes]
rs7807729	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs916854	1.00[ASW][hapmap]

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	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
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4722736	ZNRF2	cis	cerebellum	SCAN
rs4722736	HIBADH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27760000-27778800	Weak transcription	HSMMtube	muscle
2	chr7:27769000-27771000	Weak transcription	HepG2	liver
3	chr7:27769800-27770600	Enhancers	Pancreas	Pancrea
4	chr7:27769800-27771000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:27769800-27771000	Enhancers	K562	blood
6	chr7:27769800-27771200	Enhancers	Gastric	stomach
7	chr7:27770000-27778600	Weak transcription	Right Atrium	heart

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