Variant report

Variant	rs4753483
Chromosome Location	chr11:93339241-93339242
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: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

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]
rs11020425	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11822585	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]
rs4753482	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]
rs7115759	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	0.81[EUR][1000 genomes]
rs7940519	0.88[ASN][1000 genomes]
rs7940754	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
rs4753483	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93336600-93339600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:93337400-93339600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr11:93337800-93342800	Weak transcription	Fetal Intestine Large	intestine
4	chr11:93337800-93343000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:93337800-93343200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr11:93338000-93339400	Enhancers	Fetal Brain Male	brain
7	chr11:93338200-93340200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:93338400-93339400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:93338600-93339800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:93338600-93340200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:93338800-93339400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:93338800-93339400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:93338800-93339600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:93338800-93339600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:93338800-93340200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:93339000-93339400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:93339000-93339400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:93339000-93339400	Enhancers	Brain Germinal Matrix	brain
19	chr11:93339000-93339600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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