Variant report

Variant	rs12520003
Chromosome Location	chr5:112677523-112677524
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112670061..112672629-chr5:112676189..112678751,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10077020	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10428666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10519343	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10519345	1.00[CHB][hapmap]
rs10519346	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1116547	1.00[CHB][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11241197	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11241201	1.00[CHB][hapmap];0.82[YRI][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11241206	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs11241209	0.88[ASN][1000 genomes]
rs11738075	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs11738215	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs11740353	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11741794	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11741916	0.85[ASN][1000 genomes]
rs11743052	1.00[CHB][hapmap]
rs11744606	1.00[CHB][hapmap]
rs11748465	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11748503	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11748524	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11749864	1.00[CEU][hapmap]
rs12152879	0.92[ASN][1000 genomes]
rs12186466	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12188069	1.00[CEU][hapmap]
rs12514091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12518849	1.00[CHB][hapmap]
rs12519753	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12523027	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12523255	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs13360719	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1443683	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1517209	0.98[ASN][1000 genomes]
rs1586943	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17135488	1.00[CHB][hapmap]
rs17135514	1.00[CEU][hapmap]
rs17135515	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17135517	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17135519	1.00[CEU][hapmap]
rs17135520	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17135526	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17135531	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17135535	1.00[CHB][hapmap]
rs17135543	1.00[CHB][hapmap]
rs17135546	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17135597	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs17135608	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs17135616	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs1838208	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1850410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1997521	1.00[CHB][hapmap]
rs2068923	1.00[CHB][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2091803	1.00[CHB][hapmap]
rs4331889	0.81[YRI][hapmap]
rs4705806	1.00[CHB][hapmap]
rs4705807	1.00[CHB][hapmap]
rs4705808	1.00[CHB][hapmap]
rs4705809	1.00[CHB][hapmap]
rs4705814	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs4705817	1.00[CHB][hapmap];0.98[ASN][1000 genomes]
rs4705818	0.96[ASN][1000 genomes]
rs4705819	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs62374372	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6594696	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6594697	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs6594701	0.91[YRI][hapmap]
rs66728961	0.98[ASN][1000 genomes]
rs67303814	0.92[ASN][1000 genomes]
rs67764628	0.94[ASN][1000 genomes]
rs6861786	0.84[ASN][1000 genomes]
rs6864528	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs6877524	1.00[CHB][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6882900	0.84[ASN][1000 genomes]
rs6887565	1.00[CHB][hapmap]
rs6888602	1.00[CHB][hapmap]
rs73236478	0.96[ASN][1000 genomes]
rs73236479	0.92[ASN][1000 genomes]
rs73244772	0.82[EUR][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs7724707	1.00[CHB][hapmap]
rs7724717	1.00[CHB][hapmap]
rs7724936	1.00[CHB][hapmap]
rs971370	1.00[CHB][hapmap]
rs971371	1.00[CHB][hapmap]
rs971373	1.00[CHB][hapmap]
rs977997	1.00[CHB][hapmap]
rs9800316	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
3	chr5:112667200-112678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:112667200-112678800	Weak transcription	HMEC	breast
5	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112667200-112680600	Weak transcription	NHEK	skin
7	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
8	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
9	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112673200-112678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:112674600-112678800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:112675800-112679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:112676400-112678000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:112676400-112678400	Weak transcription	Right Atrium	heart
15	chr5:112676600-112678000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:112676600-112679800	Weak transcription	Left Ventricle	heart
17	chr5:112676800-112678400	Weak transcription	Fetal Heart	heart

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