Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127811595..127818089-chr7:127821364..127826957,7	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10487503	1.00[EUR][1000 genomes]
rs17151567	1.00[EUR][1000 genomes]
rs17151575	1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151650	1.00[EUR][1000 genomes]
rs17151839	1.00[ASN][1000 genomes]
rs17151842	1.00[ASN][1000 genomes]
rs4728082	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4731390	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4731391	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs58395975	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467154	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6952734	1.00[EUR][1000 genomes]
rs6953530	1.00[EUR][1000 genomes]
rs6975274	1.00[EUR][1000 genomes]
rs6976145	1.00[EUR][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7804310	1.00[TSI][hapmap];1.00[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127819200-127824000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr7:127820200-127823200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:127820200-127824000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:127820600-127823000	Enhancers	Brain Hippocampus Middle	brain
5	chr7:127820600-127823200	Enhancers	Brain Angular Gyrus	brain
6	chr7:127820800-127823200	Enhancers	Brain Anterior Caudate	brain
7	chr7:127821200-127824200	Weak transcription	Right Atrium	heart
8	chr7:127821400-127824200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:127821600-127823200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:127822400-127823200	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:127822400-127823200	Enhancers	Brain Substantia Nigra	brain
12	chr7:127822800-127823000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

Quick Search: