Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:142556063..142558298-chr6:142562723..142565350,3	K562	blood:
2	chr6:142562845..142565583-chr6:142567403..142569792,2	K562	blood:
3	chr6:142563411..142566462-chr6:142568328..142570215,3	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12204775	1.00[AFR][1000 genomes]
rs17184712	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17185096	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17185340	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17185466	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57028880	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58988681	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60887627	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6570500	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6910399	0.86[EUR][1000 genomes]
rs6915416	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72986510	0.80[ASN][1000 genomes]
rs7743068	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7750478	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7750811	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7756729	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7759238	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7772244	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7774728	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9496314	0.88[EUR][1000 genomes];0.80[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	nsv5511	chr6:142550032-142594960	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17573201	VTA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142563600-142564400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:142563600-142564400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr6:142563600-142564400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:142563600-142564400	Enhancers	K562	blood
5	chr6:142563600-142564400	Enhancers	NHEK	skin
6	chr6:142563800-142564400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:142563800-142564400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:142563800-142564400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:142564000-142564400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:142564000-142564400	Enhancers	HMEC	breast
11	chr6:142564000-142564600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:142564000-142564800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:142564000-142566000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:142564200-142565400	Weak transcription	Placenta	Placenta

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