Variant report

Variant	rs598495
Chromosome Location	chr11:93507819-93507820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93473892..93475955-chr11:93507509..93510269,2	K562	blood:
2	chr11:93507097..93508668-chr11:93516203..93518095,2	MCF-7	breast:
3	chr11:93507185..93509906-chr11:93516225..93519167,3	K562	blood:
4	chr11:93507107..93508647-chr11:93509097..93511898,2	K562	blood:
5	chr11:93473228..93477931-chr11:93504576..93509493,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166012	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000182919	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1150326	0.90[EUR][1000 genomes]
rs1298531	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2077408	0.96[EUR][1000 genomes]
rs34057693	0.89[EUR][1000 genomes]
rs3763808	0.92[EUR][1000 genomes]
rs55734929	0.91[EUR][1000 genomes]
rs584084	0.90[CHB][hapmap]
rs606087	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs61498836	0.89[EUR][1000 genomes]
rs615428	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61904953	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61904957	0.92[EUR][1000 genomes]
rs625685	0.90[CHB][hapmap]
rs628665	0.87[EUR][1000 genomes]
rs654896	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs664257	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66460850	0.96[EUR][1000 genomes]
rs66483735	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66487029	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66760087	0.89[EUR][1000 genomes]
rs66797025	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs669565	0.93[CEU][hapmap];0.90[CHB][hapmap];0.90[EUR][1000 genomes]
rs670391	0.90[EUR][1000 genomes]
rs674886	0.82[EUR][1000 genomes]
rs67594435	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs676586	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs67681709	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs677019	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs67734074	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs679241	0.93[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs687042	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs7103466	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs7117456	0.80[EUR][1000 genomes]
rs7119738	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs72976543	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72976568	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7814	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs7924366	0.90[CHB][hapmap];0.89[JPT][hapmap]

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	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
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs598495	MED17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93478800-93508200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:93492200-93516600	Weak transcription	Psoas Muscle	Psoas
3	chr11:93492200-93516800	Weak transcription	Right Ventricle	heart
4	chr11:93496000-93513600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:93498000-93516600	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:93498600-93516600	Weak transcription	Hela-S3	cervix
7	chr11:93499200-93516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:93499800-93516600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:93505800-93516600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:93506200-93516600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:93506400-93516600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr11:93506600-93510000	Weak transcription	Spleen	Spleen
13	chr11:93506600-93516600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:93506600-93516600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:93506800-93513000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr11:93506800-93513200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:93506800-93516600	Weak transcription	Brain Germinal Matrix	brain
18	chr11:93507400-93508600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr11:93507600-93508200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr11:93507600-93516600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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