Variant report

Variant	rs9685140
Chromosome Location	chr4:62448555-62448556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10031433	0.87[EUR][1000 genomes]
rs10866123	0.93[ASN][1000 genomes]
rs10866124	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11131329	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11131334	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735278	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11941524	0.93[ASN][1000 genomes]
rs12715703	0.83[ASN][1000 genomes]
rs12715704	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13123888	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1391321	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1472425	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1497901	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1497906	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1497916	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1603660	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17239080	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1846160	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2172802	0.93[ASN][1000 genomes]
rs2343250	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4860417	0.90[EUR][1000 genomes]
rs4860418	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6551634	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67669396	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6813075	0.88[EUR][1000 genomes]
rs6817476	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6835374	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9991244	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868844	chr4:62241702-62497248	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv461377	chr4:62368762-62883431	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv594328	chr4:62368762-62883431	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1004815	chr4:62398737-62553769	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv537110	chr4:62398737-62553769	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv594329	chr4:62416593-62478230	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879077	chr4:62419426-62545435	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62446400-62462200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:62446800-62449000	Weak transcription	NHEK	skin
3	chr4:62447000-62449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:62447000-62449400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:62447200-62449000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:62447200-62449000	Weak transcription	HMEC	breast

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