Variant report

Variant	rs2095121
Chromosome Location	chr9:101284111-101284112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101281547..101284305-chr9:101287940..101290678,2	K562	blood:
2	chr9:101241642..101243980-chr9:101281362..101284210,2	MCF-7	breast:
3	chr9:101218366..101220871-chr9:101282476..101284374,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10121121	0.97[AFR][1000 genomes]
rs10733671	0.97[AFR][1000 genomes]
rs10760389	0.81[ASW][hapmap];0.86[MKK][hapmap]
rs1184859	0.82[JPT][hapmap]
rs2779519	0.84[ASN][1000 genomes]
rs2779556	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2779557	0.88[ASN][1000 genomes]
rs2779563	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2779565	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2779571	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs2779575	1.00[ASN][1000 genomes]
rs2779577	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2779579	1.00[ASN][1000 genomes]
rs2779580	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2779583	1.00[ASN][1000 genomes]
rs2779586	1.00[ASN][1000 genomes]
rs2779589	1.00[ASN][1000 genomes]
rs2779590	0.98[ASN][1000 genomes]
rs2779591	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2779593	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2808565	0.95[ASN][1000 genomes]
rs2808567	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7024986	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs871797	1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][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	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831665	chr9:101170061-101367692	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2095121	SLC35D2	cis	parietal	SCAN
rs2095121	CTSL2	cis	parietal	SCAN
rs2095121	C9orf102	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101282400-101286000	Enhancers	HUVEC	blood vessel
2	chr9:101282600-101284200	Enhancers	Osteobl	bone
3	chr9:101283800-101288000	Weak transcription	Fetal Brain Male	brain
4	chr9:101284000-101285600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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