Variant report

Variant	rs2694958
Chromosome Location	chr3:144269597-144269598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1007565	1.00[ASN][1000 genomes]
rs1178896	0.92[ASN][1000 genomes]
rs1178898	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1178902	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1182797	0.92[ASN][1000 genomes]
rs13076501	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1527231	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1656986	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726523	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726525	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726537	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1880902	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918270	1.00[ASN][1000 genomes]
rs2575182	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575187	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575193	1.00[ASN][1000 genomes]
rs2717378	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs759968	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628404	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs800046	0.81[ASN][1000 genomes]
rs9845422	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9857731	0.80[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9864125	0.82[EUR][1000 genomes]
rs9871303	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2756108	chr3:144177836-144301659	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv877571	chr3:144188561-144291254	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3379740	chr3:144225847-144433818	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1010388	chr3:144236022-144326640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2757895	chr3:144236202-144391387	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2759185	chr3:144236202-144391387	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1001888	chr3:144239415-144272509	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv536753	chr3:144239415-144272509	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1013350	chr3:144239415-144326640	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv536754	chr3:144239415-144326640	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv877572	chr3:144244265-144312402	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	nsv1012719	chr3:144264442-144283362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv877573	chr3:144265840-144323993	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv1014395	chr3:144268563-144283849	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144266600-144271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:144268400-144272400	Weak transcription	Fetal Lung	lung
3	chr3:144268800-144271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:144268800-144272000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr3:144268800-144272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:144269000-144270800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:144269000-144271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:144269000-144271800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:144269000-144274000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:144269200-144272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:144269200-144272400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:144269400-144272000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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