Variant report

Variant	rs4753482
Chromosome Location	chr11:93337184-93337185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93331530..93334524-chr11:93337032..93340985,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10741466	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10831059	0.90[EUR][1000 genomes]
rs10831065	0.80[ASN][1000 genomes]
rs11020416	0.81[CHB][hapmap]
rs11020425	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11822585	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs1939562	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1939573	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2155242	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2399689	0.90[EUR][1000 genomes]
rs4388844	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4753481	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4753483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5025292	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58018625	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58172303	0.84[EUR][1000 genomes]
rs58671261	0.84[EUR][1000 genomes]
rs61743303	0.81[EUR][1000 genomes]
rs6483253	0.90[EUR][1000 genomes]
rs67112133	0.81[EUR][1000 genomes]
rs67182840	0.81[EUR][1000 genomes]
rs67257421	0.84[EUR][1000 genomes]
rs67310816	0.81[EUR][1000 genomes]
rs67437695	0.84[EUR][1000 genomes]
rs67773478	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68159082	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7108404	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109236	0.86[CEU][hapmap];0.84[GIH][hapmap];0.86[TSI][hapmap]
rs7115759	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs7130903	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72970943	0.90[EUR][1000 genomes]
rs72970947	0.90[EUR][1000 genomes]
rs72972624	0.88[EUR][1000 genomes]
rs7929512	0.90[EUR][1000 genomes]
rs7930516	0.84[EUR][1000 genomes]
rs7939577	0.86[CEU][hapmap];0.84[GIH][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs7940519	0.88[ASN][1000 genomes]
rs7940754	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4753482	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93336600-93337400	Enhancers	H1 Cell Line	embryonic stem cell
2	chr11:93336600-93337400	Enhancers	Spleen	Spleen
3	chr11:93336600-93337400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr11:93336600-93337800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:93336600-93337800	Enhancers	Fetal Intestine Small	intestine
6	chr11:93336600-93338000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:93336600-93339600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:93336800-93337200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr11:93336800-93337200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:93336800-93337400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:93336800-93337600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr11:93336800-93337800	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:93336800-93337800	Enhancers	Fetal Intestine Large	intestine
14	chr11:93337000-93337400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:93337000-93337400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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