Variant report

Variant	rs10238413
Chromosome Location	chr7:50648184-50648185
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10274172	0.83[ASN][1000 genomes]
rs11238214	0.83[ASN][1000 genomes]
rs11238226	0.83[ASN][1000 genomes]
rs11489734	0.83[ASN][1000 genomes]
rs11489736	0.83[ASN][1000 genomes]
rs12665904	0.83[ASN][1000 genomes]
rs12669770	0.81[ASN][1000 genomes]
rs1813214	0.83[ASN][1000 genomes]
rs1839740	0.83[ASN][1000 genomes]
rs1987859	0.83[ASN][1000 genomes]
rs3829897	0.93[ASN][1000 genomes]
rs4275187	0.83[ASN][1000 genomes]
rs4392851	0.82[ASN][1000 genomes]
rs4469404	0.83[ASN][1000 genomes]
rs4512339	0.83[ASN][1000 genomes]
rs4601266	0.83[ASN][1000 genomes]
rs4947644	0.82[EUR][1000 genomes]
rs4947684	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55718635	0.80[ASN][1000 genomes]
rs55738142	0.82[ASN][1000 genomes]
rs56233242	0.82[ASN][1000 genomes]
rs59086818	0.81[ASN][1000 genomes]
rs7797131	0.83[ASN][1000 genomes]
rs7802148	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv3370357	chr7:50638271-50651392	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10238413	FIGNL1	cis	lung	GTEx
rs10238413	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50645200-50648600	Enhancers	Fetal Intestine Small	intestine
2	chr7:50647400-50648600	Enhancers	Fetal Intestine Large	intestine
3	chr7:50647600-50648400	Enhancers	Liver	Liver
4	chr7:50647600-50648800	Enhancers	HepG2	liver
5	chr7:50648000-50648200	Enhancers	Duodenum Mucosa	Duodenum

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