Variant report

Variant	rs10517367
Chromosome Location	chr4:56935796-56935797
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11729231	0.87[EUR][1000 genomes]
rs11938852	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13112752	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17086249	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412720	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412721	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412722	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412725	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2412726	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899054	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34546346	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34577487	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35204688	0.86[EUR][1000 genomes]
rs35976456	0.93[ASN][1000 genomes]
rs36092812	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4355456	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4645275	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58927874	0.86[EUR][1000 genomes]
rs59053231	0.95[ASN][1000 genomes]
rs59838410	0.91[ASN][1000 genomes]
rs60296378	0.91[ASN][1000 genomes]
rs6819574	0.91[ASN][1000 genomes]
rs6826903	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6836376	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6839870	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73155600	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73155601	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73162699	1.00[ASN][1000 genomes]
rs73162701	0.95[ASN][1000 genomes]
rs7659294	0.86[EUR][1000 genomes]
rs7661471	0.84[EUR][1000 genomes]
rs7672541	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7676365	0.93[ASN][1000 genomes]
rs7681714	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3437596	chr4:56934495-56938693	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10517367	KIAA1211	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56916400-56936200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:56923800-56936400	Weak transcription	Fetal Intestine Small	intestine
3	chr4:56923800-56936800	Weak transcription	Fetal Intestine Large	intestine
4	chr4:56926800-56936200	Weak transcription	Fetal Kidney	kidney
5	chr4:56927200-56939800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:56931200-56943600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:56934200-56937600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:56934600-56935800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:56934800-56935800	ZNF genes & repeats	Fetal Stomach	stomach
10	chr4:56934800-56936000	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr4:56934800-56936000	ZNF genes & repeats	Fetal Brain Female	brain
12	chr4:56935000-56936200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:56935000-56938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:56935200-56936000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:56935400-56936800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:56935400-56942800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:56935400-56945000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:56935600-56935800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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