Variant report

Variant	rs7870912
Chromosome Location	chr9:116188725-116188726
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116172825..116175945-chr9:116186389..116190565,3	K562	blood:
2	chr9:116171368..116175084-chr9:116187738..116191861,8	MCF-7	breast:
3	chr9:116173439..116175990-chr9:116186543..116189619,3	MCF-7	breast:
4	chr9:116186574..116188949-chr9:116192871..116195192,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10125960	0.95[YRI][hapmap]
rs10217750	0.95[YRI][hapmap]
rs10481676	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs10981793	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10981794	0.95[YRI][hapmap]
rs10981803	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs10981808	0.95[YRI][hapmap]
rs10981814	0.89[YRI][hapmap]
rs10981815	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs10981816	0.89[YRI][hapmap]
rs10981817	0.89[YRI][hapmap]
rs10981819	0.86[ASW][hapmap];0.83[LWK][hapmap];0.89[YRI][hapmap]
rs10981830	1.00[CEU][hapmap];0.89[YRI][hapmap];0.93[EUR][1000 genomes]
rs10981835	0.89[TSI][hapmap]
rs12335991	0.94[YRI][hapmap]
rs12336719	0.95[YRI][hapmap]
rs12337340	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs12338697	0.86[ASW][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap]
rs12338701	0.89[YRI][hapmap]
rs12338788	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.84[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12339493	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs12339617	0.95[YRI][hapmap]
rs12339851	1.00[ASW][hapmap];0.81[LWK][hapmap];0.94[YRI][hapmap]
rs12340996	0.95[YRI][hapmap]
rs12341332	0.89[YRI][hapmap]
rs12342508	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs12342699	1.00[ASW][hapmap];0.84[LWK][hapmap]
rs12343129	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs12343141	0.95[YRI][hapmap]
rs12344578	0.94[YRI][hapmap]
rs12344964	0.95[YRI][hapmap]
rs12345524	0.86[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs12346076	0.95[YRI][hapmap]
rs12346087	0.89[YRI][hapmap]
rs12346939	0.95[YRI][hapmap]
rs12347382	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12347895	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs12351728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17187621	0.85[TSI][hapmap]
rs17525042	0.86[ASN][1000 genomes]
rs17553698	0.86[ASN][1000 genomes]
rs1890992	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs2050865	1.00[ASW][hapmap];0.95[YRI][hapmap]
rs2050866	0.95[YRI][hapmap]
rs34106027	0.86[ASN][1000 genomes]
rs34142167	0.86[ASN][1000 genomes]
rs35120599	0.86[ASN][1000 genomes]
rs35329679	0.86[ASN][1000 genomes]
rs3747813	1.00[CHB][hapmap]
rs3761819	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3810925	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3810926	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3827674	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3983381	0.89[YRI][hapmap]
rs41276809	0.86[ASN][1000 genomes]
rs41312200	0.86[ASN][1000 genomes]
rs41316948	0.86[ASN][1000 genomes]
rs4596719	0.95[YRI][hapmap]
rs4979257	0.89[YRI][hapmap]
rs55714377	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478011	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs6478016	0.94[YRI][hapmap]
rs6478017	1.00[ASW][hapmap];0.95[YRI][hapmap]
rs6478022	0.89[YRI][hapmap]
rs6478023	0.89[YRI][hapmap]
rs7018783	0.89[YRI][hapmap]
rs7020623	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7021491	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7023661	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7024445	0.89[YRI][hapmap]
rs7024612	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs7024996	0.89[YRI][hapmap]
rs7026656	0.94[YRI][hapmap]
rs7027024	0.94[YRI][hapmap]
rs7027340	0.95[YRI][hapmap]
rs7028327	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7033679	0.95[YRI][hapmap]
rs7037441	0.94[YRI][hapmap]
rs7037761	0.95[YRI][hapmap]
rs7040031	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7041833	0.80[YRI][hapmap]
rs7042695	0.94[YRI][hapmap]
rs7042968	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7043140	0.95[YRI][hapmap]
rs7045347	0.94[YRI][hapmap]
rs7046427	0.86[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7047062	0.89[YRI][hapmap]
rs7049221	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs72760096	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72761906	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761963	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72761965	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7848203	1.00[ASW][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap]
rs7851718	0.86[ASW][hapmap];0.81[LWK][hapmap];0.89[YRI][hapmap]
rs7851937	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.87[LWK][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7852118	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.84[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7853792	0.84[YRI][hapmap]
rs7854197	0.89[YRI][hapmap]
rs7854524	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]
rs7855325	0.86[ASW][hapmap];0.81[LWK][hapmap];0.93[YRI][hapmap]
rs7855434	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856689	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.84[LWK][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7857217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7857943	0.89[YRI][hapmap]
rs7860673	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7861248	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs7863159	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs7864467	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];0.90[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7864816	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7867353	0.95[YRI][hapmap]
rs7867430	0.81[EUR][1000 genomes]
rs7870142	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7870227	0.86[ASW][hapmap];0.89[YRI][hapmap]
rs7870265	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes]
rs7870451	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7871186	1.00[ASW][hapmap];0.89[YRI][hapmap]
rs7872283	1.00[ASW][hapmap];0.81[LWK][hapmap];0.95[YRI][hapmap]
rs883025	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];0.81[LWK][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap]
rs884898	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.96[TSI][hapmap];0.84[YRI][hapmap];0.93[EUR][1000 genomes]
rs9299215	0.95[YRI][hapmap]
rs944345	0.89[YRI][hapmap]
rs944346	0.89[YRI][hapmap]
rs9657641	0.89[YRI][hapmap]
rs9657658	0.83[YRI][hapmap]
rs9657659	0.89[YRI][hapmap]
rs9785299	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap]

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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7870912	C9orf91	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116184600-116199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:116186000-116199200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:116187000-116189000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:116187000-116189200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:116187600-116189800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:116188200-116189200	Enhancers	Primary hematopoietic stem cells	blood
7	chr9:116188200-116189200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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