Variant report

Variant	rs4910048
Chromosome Location	chr11:9389875-9389876
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
2	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
3	chr11:9387912..9390461-chr11:9419141..9421304,2	K562	blood:

Variant related genes	Relation type
ENSG00000205339	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1020621	0.81[JPT][hapmap]
rs10437595	0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10437665	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10770024	0.87[ASN][1000 genomes]
rs10770028	0.81[JPT][hapmap]
rs10770032	0.81[JPT][hapmap]
rs10770037	0.81[CEU][hapmap]
rs10840218	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10840219	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10840222	0.85[ASN][1000 genomes]
rs10840224	0.85[ASN][1000 genomes]
rs10840228	0.81[JPT][hapmap]
rs10840243	0.86[GIH][hapmap]
rs11042311	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11042328	0.81[JPT][hapmap]
rs11042350	0.86[GIH][hapmap]
rs11042366	0.89[GIH][hapmap];0.81[JPT][hapmap]
rs12291369	0.91[ASN][1000 genomes]
rs12795344	0.81[JPT][hapmap]
rs2290423	0.91[GIH][hapmap]
rs35484677	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs41369549	0.81[JPT][hapmap]
rs4243948	0.86[ASN][1000 genomes]
rs4362147	0.87[ASN][1000 genomes]
rs4409822	0.83[ASN][1000 genomes]
rs4471419	0.87[ASN][1000 genomes]
rs4525241	0.83[ASN][1000 genomes]
rs4582976	0.87[ASN][1000 genomes]
rs4625466	1.00[CHB][hapmap];0.82[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs4910046	0.93[ASN][1000 genomes]
rs4910047	0.93[ASN][1000 genomes]
rs4910049	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4910458	0.85[ASN][1000 genomes]
rs4910459	0.98[ASN][1000 genomes]
rs4910460	0.98[ASN][1000 genomes]
rs4910461	0.97[ASN][1000 genomes]
rs6486307	0.80[JPT][hapmap]
rs6486361	0.81[JPT][hapmap]
rs7104568	0.81[JPT][hapmap]
rs7105373	0.93[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7115821	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7122252	0.91[GIH][hapmap];0.81[JPT][hapmap]
rs7394742	0.95[ASN][1000 genomes]
rs7395630	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7926589	0.82[GIH][hapmap]
rs7927350	0.91[GIH][hapmap]
rs7930205	0.88[ASN][1000 genomes]
rs7939724	0.81[CEU][hapmap]
rs7944535	0.98[ASN][1000 genomes]
rs7944578	0.91[GIH][hapmap]
rs7946263	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949053	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7952145	0.95[ASN][1000 genomes]
rs8785	0.91[GIH][hapmap]
rs9971433	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9971484	0.90[AFR][1000 genomes];0.94[ASN][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	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	nsv975322	chr11:9363750-9395226	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4910048	ST5	cis	cerebellum	SCAN
rs4910048	HS2ST1	trans	cerebellum	SCAN
rs4910048	OR51B5	cis	cerebellum	SCAN
rs4910048	SNORA23	cis	cerebellum	SCAN
rs4910048	IPO7	Cis_1M	lymphoblastoid	RTeQTL
rs4910048	OR56A1	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9386800-9391200	Weak transcription	Fetal Brain Male	brain
2	chr11:9386800-9394200	Weak transcription	HepG2	liver
3	chr11:9386800-9406000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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