Variant report

Variant	rs12503644
Chromosome Location	chr4:48439872-48439873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1015699	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10805168	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1117010	0.92[ASN][1000 genomes]
rs11731383	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12507206	0.94[ASN][1000 genomes]
rs12511991	0.94[ASN][1000 genomes]
rs12645951	0.85[ASN][1000 genomes]
rs12649527	0.92[ASN][1000 genomes]
rs12649528	0.92[ASN][1000 genomes]
rs13105385	0.92[ASN][1000 genomes]
rs13115295	0.94[ASN][1000 genomes]
rs13133788	0.85[ASN][1000 genomes]
rs13148849	0.92[ASN][1000 genomes]
rs13150017	0.80[ASN][1000 genomes]
rs1352433	0.92[ASN][1000 genomes]
rs1352434	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1488647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1586540	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1948167	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2029348	0.85[ASN][1000 genomes]
rs2291474	0.94[ASN][1000 genomes]
rs2291475	0.85[ASN][1000 genomes]
rs2353312	0.87[ASN][1000 genomes]
rs2353314	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2353315	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2353855	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28409655	0.90[ASN][1000 genomes]
rs34975258	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35758434	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3828496	0.92[ASN][1000 genomes]
rs445892	0.81[ASN][1000 genomes]
rs4694895	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4695377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4695381	0.86[EUR][1000 genomes]
rs62309455	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62309458	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6447634	0.92[ASN][1000 genomes]
rs6447635	0.85[ASN][1000 genomes]
rs6816010	0.85[ASN][1000 genomes]
rs6816352	0.86[ASN][1000 genomes]
rs6821277	0.87[ASN][1000 genomes]
rs6829705	0.84[ASN][1000 genomes]
rs6834339	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6836010	0.85[ASN][1000 genomes]
rs6837335	0.81[ASN][1000 genomes]
rs6838613	0.88[ASN][1000 genomes]
rs6844211	0.85[ASN][1000 genomes]
rs6848073	0.85[ASN][1000 genomes]
rs6848395	0.84[ASN][1000 genomes]
rs7438704	0.81[ASN][1000 genomes]
rs7438713	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7672892	0.92[ASN][1000 genomes]
rs7674269	0.91[ASN][1000 genomes]
rs7678164	0.86[ASN][1000 genomes]
rs923372	0.92[ASN][1000 genomes]
rs923373	0.92[ASN][1000 genomes]
rs9291323	0.92[ASN][1000 genomes]
rs974014	0.92[ASN][1000 genomes]
rs974015	0.92[ASN][1000 genomes]
rs974016	0.91[ASN][1000 genomes]
rs9996532	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12503644	SLAIN2	Cis_1M	lymphoblastoid	RTeQTL
rs12503644	SLC10A4	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48425200-48441600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:48426000-48442000	Weak transcription	K562	blood
3	chr4:48434000-48441800	Weak transcription	Left Ventricle	heart
4	chr4:48438800-48442000	Weak transcription	HSMMtube	muscle

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