Variant report

Variant	rs13424583
Chromosome Location	chr2:152968579-152968580
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152968155..152969662-chr2:152974351..152976123,2	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10177222	0.90[EUR][1000 genomes]
rs10187630	0.90[EUR][1000 genomes]
rs10203659	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10469642	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10497095	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10497097	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs10803946	0.94[CEU][hapmap]
rs10930892	0.89[JPT][hapmap]
rs10930923	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930939	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs10930959	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs1133478	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11694120	0.86[EUR][1000 genomes]
rs11884659	0.86[EUR][1000 genomes]
rs11893841	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12328733	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12468532	0.88[EUR][1000 genomes]
rs12472524	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12476550	0.88[EUR][1000 genomes]
rs12612557	0.89[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12613984	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12615156	0.93[EUR][1000 genomes]
rs12621378	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs12622092	0.88[EUR][1000 genomes]
rs12623355	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12693270	0.88[EUR][1000 genomes]
rs12693271	0.90[EUR][1000 genomes]
rs13003423	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs13009614	0.93[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13426474	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13429172	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs2002247	0.86[EUR][1000 genomes]
rs2345633	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs2345634	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs34233450	0.86[EUR][1000 genomes]
rs35155943	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35717822	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3768648	0.94[CEU][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3768649	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs3768651	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3806464	0.84[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4255959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4368329	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4473376	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4505521	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4611639	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs4664084	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4664085	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4664089	0.94[CEU][hapmap]
rs4664530	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4664535	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs4664537	0.90[EUR][1000 genomes]
rs62176474	0.90[EUR][1000 genomes]
rs62176476	0.90[EUR][1000 genomes]
rs62176478	0.87[EUR][1000 genomes]
rs62176479	0.92[EUR][1000 genomes]
rs6650779	0.94[CEU][hapmap];0.89[EUR][1000 genomes]
rs6720552	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7419567	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7420277	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7572616	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7588906	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9917198	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats 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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152956200-152978600	Weak transcription	Aorta	Aorta
2	chr2:152957200-152979400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:152963000-152976000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:152964400-152977000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:152966200-152976000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:152966600-152975800	Weak transcription	Placenta	Placenta
7	chr2:152967800-152976000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:152968000-152975600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:152968000-152975800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:152968000-152995800	Weak transcription	HSMMtube	muscle
11	chr2:152968200-152972400	Weak transcription	Fetal Heart	heart

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