Variant report

Variant	rs9314972
Chromosome Location	chr13:30327969-30327970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1058650	0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs11147398	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12872400	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs1323931	0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs1410110	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1854176	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1927193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2182129	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs2234416	0.91[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2388246	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs2388247	0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap]
rs2761938	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2761939	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2761940	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278034	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2892463	0.83[GIH][hapmap];0.89[YRI][hapmap]
rs4083610	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4238128	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4265673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4297554	0.80[ASN][1000 genomes]
rs4769772	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4769775	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490429	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6490430	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72623487	0.91[ASN][1000 genomes]
rs7320474	0.80[ASN][1000 genomes]
rs7326253	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7330356	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7335148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7342470	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7995666	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9314973	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9314974	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9314975	0.88[ASN][1000 genomes]
rs9314978	0.80[ASN][1000 genomes]
rs9506226	0.81[ASN][1000 genomes]
rs9506229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9506231	0.91[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs9508550	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9508553	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs9508554	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9508557	0.80[ASN][1000 genomes]
rs9508558	0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[JPT][hapmap]
rs9508568	0.82[ASN][1000 genomes]
rs9550494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551739	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9551741	0.86[ASN][1000 genomes]
rs9551744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9551751	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs9551753	0.81[CHB][hapmap]
rs9578136	0.91[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs9578139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30317600-30335800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:30324200-30328000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30324600-30328000	Weak transcription	Osteobl	bone
4	chr13:30324600-30328200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:30324600-30328200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:30324600-30340400	Weak transcription	Adipose Nuclei	Adipose
7	chr13:30324800-30328200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr13:30324800-30328200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr13:30325200-30328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:30326400-30328600	Weak transcription	Fetal Kidney	kidney
11	chr13:30326600-30328000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:30326600-30328200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:30326600-30343200	Weak transcription	Spleen	Spleen
14	chr13:30327800-30328400	Enhancers	Stomach Smooth Muscle	stomach
15	chr13:30327800-30328800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:30327800-30329200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:30327800-30329200	Enhancers	Cortex derived primary cultured neurospheres	brain

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