Variant report

Variant	rs2421694
Chromosome Location	chr10:93516104-93516105
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	chr10:93514473..93516861-chr10:93537437..93539796,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10786009	0.93[EUR][1000 genomes]
rs10786010	0.93[EUR][1000 genomes]
rs10786017	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1080496	0.93[EUR][1000 genomes]
rs10881934	1.00[JPT][hapmap]
rs10881947	0.93[EUR][1000 genomes]
rs10881957	0.94[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11186666	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1361552	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1418161	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1592051	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1986941	0.93[EUR][1000 genomes]
rs2096079	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4244930	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4933220	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7077236	0.85[ASN][1000 genomes]
rs7092745	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7092884	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7093728	0.88[EUR][1000 genomes]
rs7094498	0.93[EUR][1000 genomes]
rs7098763	0.93[EUR][1000 genomes]
rs7099557	0.93[EUR][1000 genomes]
rs7475294	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7913504	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv975785	chr10:93501141-93525212	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2421694	ANKRD1	cis	cerebellum	SCAN
rs2421694	MYOF	cis	cerebellum	SCAN
rs2421694	TNKS2-AS1	cis	Esophagus Mucosa	GTEx
rs2421694	TNKS2-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs2421694	TNKS2-AS1	cis	Esophagus Muscularis	GTEx
rs2421694	TNKS2-AS1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93515800-93516200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:93515800-93516400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr10:93515800-93516400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr10:93515800-93516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:93515800-93516600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:93515800-93516600	Enhancers	NHLF	lung
7	chr10:93515800-93517000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:93516000-93516400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr10:93516000-93516600	Enhancers	NH-A	brain

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