Variant report

Variant	rs10122383
Chromosome Location	chr9:95554675-95554676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:95548519..95551423-chr9:95551697..95555504,3	K562	blood:
2	chr9:95490525..95493250-chr9:95553271..95556888,4	MCF-7	breast:
3	chr9:95431446..95434360-chr9:95553227..95554835,2	K562	blood:
4	chr9:95477589..95479745-chr9:95552939..95554698,2	K562	blood:
5	chr3:12527533..12529620-chr9:95554270..95556592,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000127080	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10120856	0.81[AFR][1000 genomes]
rs10120915	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10121597	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10124058	0.92[EUR][1000 genomes]
rs10125587	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1022844	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10491804	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821008	0.96[CEU][hapmap];0.82[TSI][hapmap];0.92[EUR][1000 genomes]
rs10992393	0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10992424	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992450	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992457	0.92[EUR][1000 genomes]
rs13284038	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13284106	0.91[EUR][1000 genomes]
rs13286566	0.92[EUR][1000 genomes]
rs2181585	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2296669	0.91[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs2296671	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs41273372	1.00[ASN][1000 genomes]
rs4743875	0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4743876	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744143	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6479431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7020104	0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7043984	0.95[CEU][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs7046335	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724102	0.91[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs755209	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7852698	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.84[MKK][hapmap];0.85[TSI][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7865118	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7869521	0.95[CEU][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv831654	chr9:95542920-95720961	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv982595	chr9:95551536-95561640	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10122383	ZNF484	cis	cerebellum	SCAN
rs10122383	SUSD3	cis	multi-tissue	Pritchard
rs10122383	CENPP	cis	Esophagus Muscularis	GTEx
rs10122383	CENPP	cis	parietal	SCAN
rs10122383	RP11-19J3.3	cis	multi-tissue	Pritchard
rs10122383	ZNF484	cis	parietal	SCAN
rs10122383	CENPP	cis	Muscle Skeletal	GTEx
rs10122383	CENPP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95541400-95558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:95553200-95556600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:95553600-95557400	Weak transcription	Liver	Liver

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