Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:198126028..198126850-chr13:39928790..39929290,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000151414	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10492740	1.00[YRI][hapmap]
rs10507479	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12583159	0.85[ASN][1000 genomes]
rs12585476	0.85[ASN][1000 genomes]
rs17590635	0.85[ASN][1000 genomes]
rs17628476	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17628742	0.85[ASN][1000 genomes]
rs17628771	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1886171	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2875298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34485296	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57158348	0.81[AMR][1000 genomes]
rs58501663	0.85[ASN][1000 genomes]
rs59729125	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6563695	0.85[ASN][1000 genomes]
rs7336602	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73451012	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73451015	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73467374	0.97[ASN][1000 genomes]
rs768577	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 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	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
3	chr13:39925400-39929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:39926400-39929800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:39928000-39929200	Enhancers	Fetal Heart	heart
6	chr13:39928400-39936400	Weak transcription	Left Ventricle	heart
7	chr13:39928400-39939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:39928400-39939000	Weak transcription	Right Atrium	heart
9	chr13:39928600-39929200	Weak transcription	Adipose Nuclei	Adipose
10	chr13:39928600-39929800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:39928800-39938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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