Variant report

Variant	rs4743149
Chromosome Location	chr9:100726574-100726575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100684518..100687411-chr9:100725866..100728008,2	MCF-7	breast:
2	chr9:100701173..100704180-chr9:100725038..100729962,4	K562	blood:
3	chr9:100722151..100724703-chr9:100725851..100728367,2	MCF-7	breast:
4	chr9:100713086..100729092-chr9:100738274..100752806,69	K562	blood:
5	chr9:100701173..100704145-chr9:100726242..100729962,3	K562	blood:
6	chr9:100725968..100732851-chr9:100740527..100746264,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136938	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000236896	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1007506	1.00[JPT][hapmap]
rs10512256	0.93[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1059003	0.93[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10818284	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10984009	0.93[CEU][hapmap];1.00[MEX][hapmap]
rs10984098	0.93[CEU][hapmap];0.88[AMR][1000 genomes]
rs10984195	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10984222	1.00[JPT][hapmap]
rs10984311	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs10984377	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10984421	0.83[ASN][1000 genomes]
rs10984422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10984424	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10984479	0.89[ASN][1000 genomes]
rs10984481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10984510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10984516	0.93[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10984522	0.83[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10984532	0.93[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10984545	0.86[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11535523	0.89[ASN][1000 genomes]
rs12156487	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12375612	0.93[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12376113	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1348387	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17687621	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs1947015	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3758250	1.00[JPT][hapmap]
rs3808895	1.00[JPT][hapmap]
rs4514106	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4742708	0.93[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4743143	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4743144	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55978521	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7037172	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7043516	0.86[CEU][hapmap];0.86[MEX][hapmap]
rs72753537	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72753557	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72753579	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72753581	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72753588	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7851498	0.80[CEU][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7854948	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4743149	C9orf156	cis	cerebellum	SCAN
rs4743149	TMOD1	cis	cerebellum	SCAN
rs4743149	ZNF782	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100722400-100727400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr9:100722600-100730800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:100725200-100729600	Enhancers	K562	blood

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