Variant report

Variant	rs7847309
Chromosome Location	chr9:2963829-2963830
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	chr9:2937731..2940554-chr9:2963806..2965673,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10738822	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10813091	1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10969154	0.94[ASN][1000 genomes]
rs1393036	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1393037	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1393040	0.85[EUR][1000 genomes]
rs1501574	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1604374	1.00[YRI][hapmap]
rs3843571	0.92[GIH][hapmap];0.83[MEX][hapmap]
rs3847232	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858034	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3858035	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858036	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3913463	0.87[YRI][hapmap]
rs3913465	0.89[ASN][1000 genomes]
rs4524846	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4584190	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4741781	0.94[ASN][1000 genomes]
rs4741783	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6476138	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7023655	1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs7846783	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7857490	0.94[GIH][hapmap];1.00[LWK][hapmap];0.83[MEX][hapmap];1.00[YRI][hapmap]
rs7866720	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866824	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7874843	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7874993	0.85[EUR][1000 genomes]
rs971672	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs971673	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017581	chr9:2494815-3172020	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv539934	chr9:2494815-3172020	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1024262	chr9:2703159-3067931	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1018636	chr9:2921825-3002862	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv892085	chr9:2937654-3215842	Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1019231	chr9:2959507-2988314	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7847309	RLN1	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2961600-2969000	Enhancers	NHDF-Ad	bronchial
2	chr9:2962600-2964000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:2962800-2966600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:2963200-2968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:2963400-2964200	Weak transcription	Fetal Stomach	stomach
6	chr9:2963600-2964000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:2963600-2964400	Weak transcription	Fetal Brain Male	brain
8	chr9:2963600-2966400	Weak transcription	Fetal Brain Female	brain

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