Variant report

Variant	rs11625620
Chromosome Location	chr14:79901283-79901284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:79899576..79901464-chr14:79902826..79905660,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10136360	0.85[AFR][1000 genomes]
rs10146690	0.90[YRI][hapmap]
rs10150482	0.81[ASW][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes]
rs10444685	1.00[ASN][1000 genomes]
rs11625769	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147236	1.00[ASN][1000 genomes]
rs12147614	1.00[ASN][1000 genomes]
rs17109221	0.82[MEX][hapmap];0.95[YRI][hapmap]
rs17109256	0.82[MEX][hapmap];0.90[YRI][hapmap]
rs17836166	1.00[ASN][1000 genomes]
rs2009367	1.00[ASN][1000 genomes]
rs2370982	0.81[LWK][hapmap];0.91[MEX][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs4899745	1.00[CEU][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61519036	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61993116	1.00[ASN][1000 genomes]
rs61993137	1.00[ASN][1000 genomes]
rs61993138	1.00[ASN][1000 genomes]
rs61993139	1.00[ASN][1000 genomes]
rs61993140	1.00[ASN][1000 genomes]
rs61993141	1.00[ASN][1000 genomes]
rs61993159	1.00[ASN][1000 genomes]
rs61995163	1.00[ASN][1000 genomes]
rs61995166	1.00[ASN][1000 genomes]
rs61995177	1.00[ASN][1000 genomes]
rs61995185	1.00[ASN][1000 genomes]
rs7144011	0.82[MEX][hapmap];1.00[YRI][hapmap]
rs7154797	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7156625	0.82[MEX][hapmap]
rs8005235	1.00[ASN][1000 genomes]
rs8017403	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530072	chr14:79769657-79928269	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11625620	C14orf179	cis	parietal	SCAN
rs11625620	TMEM63C	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79884200-79901800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:79901200-79901400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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