Variant report

Variant	rs1436172
Chromosome Location	chr1:224843392-224843393
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10429870	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10799277	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs10799590	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs10915684	0.95[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10915687	0.86[ASN][1000 genomes]
rs10915694	0.85[CEU][hapmap]
rs10915696	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10915698	0.83[CEU][hapmap];0.87[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10915699	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs10915704	1.00[YRI][hapmap]
rs12025142	0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12092438	0.86[EUR][1000 genomes]
rs12121558	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs12124262	0.95[CEU][hapmap]
rs12130499	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs12132665	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs13374487	0.81[CEU][hapmap]
rs1369847	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs1436169	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1436171	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs1465768	0.82[CEU][hapmap]
rs1603917	0.95[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1603918	0.95[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs169888	0.91[CEU][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1965777	0.80[EUR][1000 genomes]
rs2405516	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2405525	0.80[EUR][1000 genomes]
rs2648746	0.95[CEU][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2897161	0.82[CEU][hapmap];0.80[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs2936575	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs298732	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs298733	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs298734	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs298735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs298738	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs298739	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2993124	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3012185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4147293	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4653402	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4653404	0.88[EUR][1000 genomes]
rs4653591	0.86[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4653592	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6667034	0.95[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6686604	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6686633	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs67817586	0.86[EUR][1000 genomes]
rs713098	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7511897	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7521396	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7535296	0.95[CEU][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7537973	0.95[CEU][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs7542995	0.85[CEU][hapmap]
rs7543218	0.85[EUR][1000 genomes]
rs7544312	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7545574	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs873594	0.82[CEU][hapmap];0.81[EUR][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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224828800-224853400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224832200-224884400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:224832800-224869000	Weak transcription	Dnd41	blood
4	chr1:224833200-224874400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:224838400-224853200	Weak transcription	Psoas Muscle	Psoas
6	chr1:224840800-224845000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:224840800-224850800	Weak transcription	NHDF-Ad	bronchial
8	chr1:224840800-224856800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:224840800-224858000	Weak transcription	NH-A	brain
10	chr1:224841000-224856600	Weak transcription	Pancreas	Pancrea
11	chr1:224842600-224844600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:224843000-224843400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:224843000-224843400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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