Variant report

Variant	rs10034453
Chromosome Location	chr4:120087808-120087809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11098487	0.87[EUR][1000 genomes]
rs11098488	0.87[EUR][1000 genomes]
rs11721566	0.89[EUR][1000 genomes]
rs12501760	0.87[EUR][1000 genomes]
rs12501822	0.87[EUR][1000 genomes]
rs12509109	0.89[EUR][1000 genomes]
rs12509446	0.85[EUR][1000 genomes]
rs12513017	0.87[EUR][1000 genomes]
rs12650057	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12650315	0.89[EUR][1000 genomes]
rs13114076	0.83[EUR][1000 genomes]
rs13133956	0.89[EUR][1000 genomes]
rs13135433	0.87[EUR][1000 genomes]
rs13149133	0.87[EUR][1000 genomes]
rs1980029	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4264818	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4267721	0.87[EUR][1000 genomes]
rs4277762	0.81[EUR][1000 genomes]
rs4391012	0.87[EUR][1000 genomes]
rs4833609	0.87[EUR][1000 genomes]
rs4834756	0.86[EUR][1000 genomes]
rs4834757	0.87[EUR][1000 genomes]
rs62326337	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62326339	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6820140	0.89[EUR][1000 genomes]
rs6820590	0.89[EUR][1000 genomes]
rs6820870	0.89[EUR][1000 genomes]
rs6828349	0.87[EUR][1000 genomes]
rs6828875	0.87[EUR][1000 genomes]
rs6829055	0.87[EUR][1000 genomes]
rs6834980	0.85[EUR][1000 genomes]
rs6836493	0.87[EUR][1000 genomes]
rs6841483	0.87[EUR][1000 genomes]
rs6845494	0.89[EUR][1000 genomes]
rs6856786	0.87[EUR][1000 genomes]
rs6857405	0.87[EUR][1000 genomes]
rs6857944	0.87[EUR][1000 genomes]
rs72910582	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7655957	0.87[EUR][1000 genomes]
rs7658890	0.87[EUR][1000 genomes]
rs7669431	0.89[EUR][1000 genomes]
rs7681001	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10034453	FGF2	cis	cerebellum	SCAN
rs10034453	RP11-33B1.1	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120061400-120089200	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:120070800-120109200	Weak transcription	Psoas Muscle	Psoas
3	chr4:120071000-120088600	Weak transcription	Right Atrium	heart
4	chr4:120077000-120107800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:120079800-120114200	Weak transcription	Aorta	Aorta
6	chr4:120083600-120088000	Weak transcription	Pancreas	Pancrea
7	chr4:120086200-120089000	Strong transcription	Left Ventricle	heart
8	chr4:120086400-120089000	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:120087000-120088800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:120087000-120090000	Strong transcription	Fetal Heart	heart
11	chr4:120087800-120093200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:120087800-120103400	Weak transcription	Right Ventricle	heart
13	chr4:120087800-120111800	Weak transcription	HSMMtube	muscle

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