Variant report

Variant	rs10983920
Chromosome Location	chr9:100602613-100602614
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100602066..100604948-chr9:100618492..100620676,2	K562	blood:
2	chr9:100579849..100582804-chr9:100601637..100604400,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10512256	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs1059003	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs10818124	0.83[AFR][1000 genomes]
rs10983892	0.83[AMR][1000 genomes]
rs10983893	0.83[AMR][1000 genomes]
rs10983896	0.83[AMR][1000 genomes]
rs10984009	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs10984098	0.93[CEU][hapmap]
rs10984377	0.93[CEU][hapmap]
rs10984516	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs10984522	0.83[CEU][hapmap]
rs10984532	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs12348691	0.81[AFR][1000 genomes]
rs12375612	0.93[CEU][hapmap]
rs1348387	0.93[CEU][hapmap]
rs1443434	0.85[ASW][hapmap];0.87[YRI][hapmap]
rs1443435	0.86[ASW][hapmap];0.87[YRI][hapmap]
rs17687621	0.93[CEU][hapmap]
rs1822416	0.89[ASN][1000 genomes]
rs1867278	0.86[ASW][hapmap];0.86[YRI][hapmap]
rs1947015	0.82[CEU][hapmap]
rs2401638	0.89[ASN][1000 genomes]
rs2401639	0.81[AFR][1000 genomes]
rs3758249	0.87[YRI][hapmap]
rs3758251	0.87[YRI][hapmap]
rs41274260	0.81[ASN][1000 genomes]
rs4742708	0.93[CEU][hapmap];0.86[MEX][hapmap]
rs4743137	0.90[EUR][1000 genomes]
rs4743144	0.88[CEU][hapmap]
rs4743149	0.86[CEU][hapmap];0.86[MEX][hapmap]
rs57541835	0.85[ASN][1000 genomes]
rs6478437	0.81[AFR][1000 genomes]
rs7043516	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753507	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753508	0.81[AMR][1000 genomes]
rs72753509	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73486634	0.85[ASN][1000 genomes]
rs73486635	0.85[ASN][1000 genomes]
rs7851498	0.80[CEU][hapmap]
rs7854948	0.93[CEU][hapmap]
rs7859751	0.85[CHB][hapmap];0.93[CHD][hapmap]
rs894673	0.87[YRI][hapmap]
rs907577	0.86[ASW][hapmap];0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10983920	Hs.43687	cis	multi-tissue	Pritchard
rs10983920	C9orf156	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100602200-100602800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr9:100602200-100603200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:100602400-100603200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:100602400-100603200	Enhancers	HMEC	breast
5	chr9:100602400-100603200	Enhancers	Osteobl	bone
6	chr9:100602400-100603600	Enhancers	NHEK	skin
7	chr9:100602600-100603000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:100602600-100603200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr9:100602600-100603200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:100602600-100603600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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