Variant report

Variant	rs1109443
Chromosome Location	chr7:48462044-48462045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10254742	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10256975	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10271606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499682	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs10499683	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs10499684	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs11185608	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs11185609	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs12112361	1.00[CEU][hapmap]
rs12113920	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs12113960	0.86[JPT][hapmap]
rs12669930	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs12669976	0.90[EUR][1000 genomes]
rs12670340	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs12671073	0.86[JPT][hapmap]
rs12672551	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs12674031	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs1316349	1.00[CEU][hapmap];0.93[JPT][hapmap]
rs1316821	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs1317162	1.00[CEU][hapmap];0.84[GIH][hapmap]
rs1405920	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs1433506	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1527835	1.00[CEU][hapmap];0.92[JPT][hapmap]
rs1527839	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1527840	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs17092931	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs17132335	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17132373	0.90[EUR][1000 genomes]
rs17132376	0.90[EUR][1000 genomes]
rs17132383	0.90[EUR][1000 genomes]
rs17132388	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs17132402	0.88[EUR][1000 genomes]
rs17132417	0.90[EUR][1000 genomes]
rs17132425	1.00[JPT][hapmap]
rs17132439	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1865194	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1918586	0.89[CEU][hapmap]
rs1918588	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs1918594	1.00[CEU][hapmap];0.81[JPT][hapmap]
rs1918596	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1918602	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1918606	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs1918613	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs2141249	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs2217710	0.94[EUR][1000 genomes]
rs2362307	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28481588	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2885484	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs4072501	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs4072502	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs4072503	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs41332948	1.00[CEU][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap]
rs4144063	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs4144064	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs4144067	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs55650796	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56232183	0.90[EUR][1000 genomes]
rs58054917	0.90[EUR][1000 genomes]
rs58553345	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60147095	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61562434	0.90[EUR][1000 genomes]
rs6583456	0.86[JPT][hapmap]
rs66501875	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66898358	0.94[EUR][1000 genomes]
rs67132562	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67163301	0.90[EUR][1000 genomes]
rs67223065	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67985903	0.90[EUR][1000 genomes]
rs6944801	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs6968069	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs6972440	0.90[EUR][1000 genomes]
rs6973231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6977997	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs73107574	0.86[EUR][1000 genomes]
rs7357308	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7457791	1.00[CEU][hapmap];0.85[JPT][hapmap]
rs7776966	1.00[JPT][hapmap]
rs7781149	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7781150	0.86[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs7785069	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7792728	1.00[JPT][hapmap]
rs7806480	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs7807529	1.00[CEU][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap]
rs9690617	1.00[CEU][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1032221	chr7:48302789-48546684	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv533811	chr7:48313757-48482470	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1015399	chr7:48321542-48544359	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48449400-48467800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:48460000-48465800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:48461200-48462800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr7:48461600-48464600	Weak transcription	HMEC	breast
5	chr7:48461600-48464600	Weak transcription	NHEK	skin
6	chr7:48461600-48466200	Weak transcription	Osteobl	bone
7	chr7:48461600-48466600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:48461800-48466000	Weak transcription	NH-A	brain
9	chr7:48462000-48464600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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