Variant report

Variant	rs4930175
Chromosome Location	chr11:64197117-64197118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64189227..64191285-chr11:64196358..64198269,2	K562	blood:
2	11:64196069-64197420..11:64402707-64415880	Hela-S3	cervix:
3	chr11:64196077..64197933-chr11:64215351..64217656,2	MCF-7	breast:
4	11:64196069-64197420..11:64415880-64426617	Hela-S3	cervix:
5	11:64196069-64197420..11:64501239-64517861	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000181908	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000237410	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000068976	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10897491	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10897504	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231787	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11231789	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11603861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11605289	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791477	0.82[ASN][1000 genomes]
rs1320628	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs488909	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930168	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4963222	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4963223	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs506594	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs508326	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs570024	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs596308	0.82[CEU][hapmap];0.83[GIH][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs6591849	0.83[GIH][hapmap]
rs668245	0.80[EUR][1000 genomes]
rs7127926	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72927984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs750830	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs750832	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv976458	chr11:64183936-64198230	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4930175	CCDC88B	cis	lymphoblastoid	seeQTL
rs4930175	FKBP2	cis	cerebellum	SCAN
rs4930175	ZBTB3	cis	parietal	SCAN
rs4930175	KDM2A	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64196400-64197200	Enhancers	Fetal Brain Male	brain
2	chr11:64196400-64197600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:64196800-64197800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:64197000-64198000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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