Variant report

Variant	rs58927874
Chromosome Location	chr4:56943449-56943450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10517367	0.86[EUR][1000 genomes]
rs1108947	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1108948	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11721368	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11729231	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934389	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13102087	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13109242	0.91[ASN][1000 genomes]
rs13112752	0.85[EUR][1000 genomes]
rs13113844	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13121092	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13139132	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13147381	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2412717	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412718	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412719	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412720	0.85[EUR][1000 genomes]
rs2412722	0.85[EUR][1000 genomes]
rs2412723	0.91[ASN][1000 genomes]
rs2412728	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34181414	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34546346	0.89[EUR][1000 genomes]
rs34577487	0.83[EUR][1000 genomes]
rs34683632	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34796075	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35204688	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35400594	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35417087	0.93[ASN][1000 genomes]
rs35770075	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35786306	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35786805	0.95[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36092812	0.88[EUR][1000 genomes]
rs4355456	0.83[EUR][1000 genomes]
rs4364320	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4645275	0.83[EUR][1000 genomes]
rs58795379	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554328	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6826903	0.81[EUR][1000 genomes]
rs6839220	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71601617	0.97[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73155601	0.83[EUR][1000 genomes]
rs7657181	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7659294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659694	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7661471	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7663270	0.98[AFR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7681714	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7685766	0.83[EUR][1000 genomes];0.93[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv999328	chr4:56942917-57041586	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1007114	chr4:56942917-57055381	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58927874	KIAA1211	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56931200-56943600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:56935400-56945000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:56936000-56943800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:56941800-56943800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:56941800-56945400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
6	chr4:56941800-56945600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:56942400-56944200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:56942400-56947000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:56942800-56945200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:56943200-56946200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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