Variant report

Variant	rs7684547
Chromosome Location	chr4:122695751-122695752
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10001422	0.83[EUR][1000 genomes]
rs10011665	0.83[EUR][1000 genomes]
rs10470915	0.85[EUR][1000 genomes]
rs10471016	0.85[EUR][1000 genomes]
rs11930525	0.85[EUR][1000 genomes]
rs11937861	0.85[EUR][1000 genomes]
rs11947643	0.91[EUR][1000 genomes]
rs1574283	0.85[EUR][1000 genomes]
rs1803183	0.83[ASN][1000 genomes]
rs28515183	0.85[EUR][1000 genomes]
rs28676474	0.85[EUR][1000 genomes]
rs3217767	0.83[ASN][1000 genomes]
rs3903026	0.85[EUR][1000 genomes]
rs4077754	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4309856	0.85[EUR][1000 genomes]
rs4508913	0.85[EUR][1000 genomes]
rs4571354	0.85[EUR][1000 genomes]
rs55685419	0.83[ASN][1000 genomes]
rs55803709	0.83[ASN][1000 genomes]
rs55936221	0.83[ASN][1000 genomes]
rs56030020	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56221685	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56300111	0.83[ASN][1000 genomes]
rs57312551	0.81[EUR][1000 genomes]
rs57779372	0.83[ASN][1000 genomes]
rs58127039	0.83[EUR][1000 genomes]
rs58745264	0.83[ASN][1000 genomes]
rs59268194	0.83[ASN][1000 genomes]
rs60240575	0.83[ASN][1000 genomes]
rs61180375	0.83[ASN][1000 genomes]
rs61665948	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6534322	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6823340	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6825926	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6830453	0.83[ASN][1000 genomes]
rs6836544	0.83[ASN][1000 genomes]
rs6854295	0.83[ASN][1000 genomes]
rs6858061	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72913994	0.85[EUR][1000 genomes]
rs72915905	0.91[EUR][1000 genomes]
rs73844293	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73844294	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73844297	0.83[ASN][1000 genomes]
rs73844298	0.83[ASN][1000 genomes]
rs73847203	0.83[ASN][1000 genomes]
rs73847204	0.83[ASN][1000 genomes]
rs73847206	0.83[ASN][1000 genomes]
rs7661218	0.89[EUR][1000 genomes]
rs769243	0.83[ASN][1000 genomes]
rs7694815	0.83[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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122693000-122697800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:122695000-122696000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:122695200-122695800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:122695200-122696000	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr4:122695400-122695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:122695400-122696200	Enhancers	Fetal Heart	heart
7	chr4:122695400-122697400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:122695400-122697400	Weak transcription	GM12878-XiMat	blood
9	chr4:122695400-122705800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:122695600-122697800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:122695600-122698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:122695600-122698800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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