Variant report

Variant	rs4085212
Chromosome Location	chr3:21482090-21482091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21475881..21478303-chr3:21479412..21482583,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12638887	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13069346	0.84[ASN][1000 genomes]
rs13095088	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13096294	0.97[ASN][1000 genomes]
rs2076829	0.83[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs341854	0.89[CHB][hapmap]
rs3732905	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3821733	0.83[CHB][hapmap]
rs3849537	0.88[CHB][hapmap]
rs3849539	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3860572	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs400737	0.87[ASN][1000 genomes]
rs4389495	0.89[ASN][1000 genomes]
rs4501133	0.89[ASN][1000 genomes]
rs4857999	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4858000	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4858001	0.87[ASN][1000 genomes]
rs4858002	0.83[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs4858321	0.86[ASN][1000 genomes]
rs4858322	0.85[ASN][1000 genomes]
rs6550607	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6550608	0.87[ASN][1000 genomes]
rs6787052	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6787456	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6797692	0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs6806788	0.88[CHB][hapmap]
rs7611710	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7614523	0.88[CHB][hapmap];0.81[EUR][1000 genomes]
rs7625365	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7634661	0.87[ASN][1000 genomes]
rs7643842	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs800621	0.82[JPT][hapmap]
rs9809197	0.89[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9859442	0.91[ASN][1000 genomes]
rs9879872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9883841	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834630	chr3:21311619-21491327	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1006471	chr3:21385627-21596955	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1000828	chr3:21399870-21565580	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv536515	chr3:21399870-21565580	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr3:21458800-21483400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:21463000-21491400	Weak transcription	Aorta	Aorta
3	chr3:21477000-21491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:21477000-21507200	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:21477400-21488600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:21477800-21487600	Weak transcription	Fetal Stomach	stomach
7	chr3:21478400-21488400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:21478800-21488600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:21479000-21484400	Weak transcription	Left Ventricle	heart
10	chr3:21480000-21489000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr3:21481400-21483200	Weak transcription	Fetal Lung	lung

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