Variant report

Variant	rs17697994
Chromosome Location	chr3:115830200-115830201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs11425708	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11918080	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12695321	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs13100914	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13318106	0.93[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1344131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630430	0.86[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1920379	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2091669	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2222827	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2864060	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2864066	0.92[ASN][1000 genomes]
rs2864067	0.92[ASN][1000 genomes]
rs28735793	0.82[ASN][1000 genomes]
rs33956431	0.88[ASN][1000 genomes]
rs34523792	0.80[ASN][1000 genomes]
rs34844901	0.88[ASN][1000 genomes]
rs34930794	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35242629	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35619123	0.88[ASN][1000 genomes]
rs35780065	0.88[ASN][1000 genomes]
rs35914238	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4263291	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831225	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs4831227	0.88[ASN][1000 genomes]
rs4831228	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4831229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4831230	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5004406	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56121547	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62269168	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62269170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66490447	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6765355	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6772113	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73139202	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7632265	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637650	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9289042	0.89[ASN][1000 genomes]
rs9809229	0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs9813038	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9816425	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9821040	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs9821865	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9822568	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9824605	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs9827733	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9836963	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9837276	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9839078	0.86[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9851643	0.86[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs9854345	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9854711	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855097	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9857520	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9858539	0.86[CHB][hapmap];0.88[JPT][hapmap]
rs9866484	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9866658	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs9868784	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9873576	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9877662	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9985471	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012260	chr3:115680931-115935968	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2756413	chr3:115721898-115908480	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2751975	chr3:115766285-115902901	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2755046	chr3:115818840-115942952	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv591345	chr3:115819376-115902901	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17697994	FSTL1	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:115824200-115837200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr3:115826000-115830200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:115827600-115837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:115830000-115830200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:115830000-115830200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr3:115830000-115830200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:115830000-115830800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr3:115830000-115830800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:115830000-115830800	Enhancers	NHEK	skin
10	chr3:115830000-115831600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:115830200-115830400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr3:115830200-115830600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:115830200-115830600	Enhancers	Brain Angular Gyrus	brain
14	chr3:115830200-115831200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:115830200-115831800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:115830200-115831800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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