Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:129504521..129507078-chr7:129598689..129601588,2	K562	blood:

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

rs_ID	r²[population]
rs1045897	0.94[ASN][1000 genomes]
rs13230141	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13239978	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1723728	0.83[ASN][1000 genomes]
rs1965542	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2140874	0.88[ASN][1000 genomes]
rs2692446	0.81[ASN][1000 genomes]
rs2692447	0.87[ASN][1000 genomes]
rs2692449	0.87[ASN][1000 genomes]
rs2708635	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2708638	0.81[AMR][1000 genomes]
rs2708639	0.87[ASN][1000 genomes]
rs2708644	0.87[ASN][1000 genomes]
rs2727509	0.87[ASN][1000 genomes]
rs2727511	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34438031	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34463221	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34629832	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35182759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955829	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73473720	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533849	chr7:129462947-129616625	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv831129	chr7:129525406-129702477	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr7:129592800-129608600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:129593400-129608400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:129597600-129601200	Enhancers	Placenta	Placenta
4	chr7:129598800-129629600	Weak transcription	Right Atrium	heart
5	chr7:129599600-129601200	Weak transcription	Fetal Heart	heart
6	chr7:129599800-129601000	Weak transcription	HSMMtube	muscle
7	chr7:129600000-129603200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:129600000-129603200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:129600000-129608600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:129600000-129608600	Weak transcription	A549	lung
11	chr7:129600200-129601000	Weak transcription	Hela-S3	cervix
12	chr7:129600800-129601800	Enhancers	Fetal Muscle Leg	muscle

Quick Search: