Variant report

Variant	rs6114768
Chromosome Location	chr20:24527523-24527524
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2386956	0.89[ASW][hapmap];0.85[CEU][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6036832	0.89[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6049755	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6049757	0.85[CEU][hapmap];0.88[LWK][hapmap];0.82[EUR][1000 genomes]
rs6049758	0.82[EUR][1000 genomes]
rs6049759	0.82[EUR][1000 genomes]
rs6049760	0.85[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6049765	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6049768	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6049771	0.89[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6049775	0.89[ASW][hapmap];0.85[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076235	0.81[EUR][1000 genomes]
rs6114757	0.82[EUR][1000 genomes]
rs6132742	0.95[CEU][hapmap];0.88[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6132743	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6132744	0.85[ASN][1000 genomes]
rs6138316	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6138318	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6138319	0.83[ASN][1000 genomes]
rs715863	0.86[ASN][1000 genomes]

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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6114768	CST9	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24521200-24528400	Weak transcription	HMEC	breast
2	chr20:24522800-24528400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr20:24523000-24528200	Weak transcription	Brain Anterior Caudate	brain
4	chr20:24523400-24527600	Weak transcription	Fetal Brain Female	brain
5	chr20:24523600-24530800	Weak transcription	Fetal Heart	heart
6	chr20:24523800-24528800	Strong transcription	H1 Cell Line	embryonic stem cell
7	chr20:24523800-24528800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr20:24525000-24528600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:24525400-24541800	Weak transcription	Left Ventricle	heart
10	chr20:24526600-24529400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr20:24527000-24527800	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr20:24527200-24528600	Weak transcription	Brain Angular Gyrus	brain
13	chr20:24527400-24527600	Weak transcription	Brain Hippocampus Middle	brain
14	chr20:24527400-24528600	Weak transcription	Aorta	Aorta
15	chr20:24527400-24528600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr20:24527400-24528800	Weak transcription	Brain Substantia Nigra	brain
17	chr20:24527400-24530600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr20:24527400-24531000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:24527400-24540200	Weak transcription	Brain Inferior Temporal Lobe	brain

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