Variant report

Variant	rs6592602
Chromosome Location	chr11:74820115-74820116
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:74818635..74821800-chr11:74824211..74827439,3	K562	blood:
2	chr11:74732304..74734096-chr11:74818351..74820380,2	K562	blood:
3	chr11:74810124..74813291-chr11:74818623..74822146,3	MCF-7	breast:
4	chr11:74813208..74814840-chr11:74819763..74821471,2	K562	blood:

Variant related genes	Relation type
ENSG00000137491	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10899076	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs10899079	0.89[CEU][hapmap];0.92[TSI][hapmap]
rs11236326	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11236348	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs11236349	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs11236350	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11236356	0.89[CEU][hapmap];0.80[CHD][hapmap];0.92[TSI][hapmap]
rs11236361	0.89[CEU][hapmap];0.92[TSI][hapmap]
rs11827488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12281823	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12361277	0.86[ASN][1000 genomes]
rs12421194	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17133732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3740839	0.83[TSI][hapmap]
rs4100076	0.89[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.92[TSI][hapmap];0.81[ASN][1000 genomes]
rs4397881	0.89[CEU][hapmap];0.92[TSI][hapmap]
rs4944072	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944073	0.87[CEU][hapmap];0.82[CHD][hapmap]
rs4944974	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944975	0.91[CHB][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4944990	0.81[JPT][hapmap]
rs4944991	0.81[JPT][hapmap]
rs4944993	0.89[CEU][hapmap];0.80[CHD][hapmap];0.92[TSI][hapmap]
rs55986601	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58626404	0.96[ASN][1000 genomes]
rs61117837	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66687047	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67947132	0.86[ASN][1000 genomes]
rs7122309	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72996586	0.86[ASN][1000 genomes]
rs881217	0.89[CEU][hapmap];0.92[TSI][hapmap]

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	esv3478707	chr11:74782633-74842791	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	esv3478718	chr11:74782633-74842791	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6592602	UVRAG	cis	parietal	SCAN
rs6592602	FCHSD2	cis	cerebellum	SCAN
rs6592602	GDPD4	cis	cerebellum	SCAN
rs6592602	KCTD21	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74818600-74820600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74819400-74821200	Weak transcription	K562	blood

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