Variant report

Variant	rs7930516
Chromosome Location	chr11:93391060-93391061
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	chr11:93370422..93373225-chr11:93388885..93391216,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11822585	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1807990	0.89[EUR][1000 genomes]
rs1939573	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4388844	0.82[EUR][1000 genomes]
rs4753482	0.84[EUR][1000 genomes]
rs4753483	0.84[EUR][1000 genomes]
rs58018625	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58172303	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58671261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743303	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67112133	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67182840	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67257421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67310816	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67437695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67749053	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67769616	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67773478	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67879380	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68159082	0.82[EUR][1000 genomes]
rs7108404	0.82[EUR][1000 genomes]
rs7109236	0.92[EUR][1000 genomes]
rs7115759	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72972624	0.82[EUR][1000 genomes]
rs7937500	0.81[EUR][1000 genomes]
rs7939577	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7940754	0.81[AMR][1000 genomes];0.84[EUR][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	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
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7930516	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93389000-93393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr11:93389200-93393800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr11:93389200-93394000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:93389400-93394000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr11:93389400-93394000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:93389400-93394200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:93389600-93394200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:93389600-93394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:93389600-93394200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:93389600-93394200	Weak transcription	Fetal Thymus	thymus
11	chr11:93389600-93394200	Weak transcription	Thymus	Thymus
12	chr11:93389600-93394200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:93389800-93394000	Weak transcription	Primary T cells from cord blood	blood
14	chr11:93390200-93393800	Weak transcription	Dnd41	blood

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