Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:33342917..33344696-chr6:33346321..33348520,4	K562	blood:
2	chr6:33343123..33345760-chr6:33346321..33348490,4	K562	blood:

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

rs_ID	r²[population]
rs1755045	0.83[ASN][1000 genomes]
rs1755048	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2076775	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs211449	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs211450	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs211453	0.91[EUR][1000 genomes]
rs211456	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2247385	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2747477	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2747479	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2772375	0.82[ASN][1000 genomes]
rs2772376	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2772389	0.84[ASN][1000 genomes]
rs2772391	0.80[ASN][1000 genomes]
rs3130007	0.85[ASN][1000 genomes]
rs3130015	0.85[ASN][1000 genomes]
rs411136	0.87[ASN][1000 genomes]
rs453590	0.89[ASN][1000 genomes]
rs461964	0.82[ASN][1000 genomes]
rs465223	0.82[ASN][1000 genomes]
rs465506	0.82[ASN][1000 genomes]
rs4711325	0.86[ASN][1000 genomes]
rs4713625	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	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
2	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7382303	HLA-DPA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33341000-33352400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:33341200-33358600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:33343800-33350200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:33343800-33359200	Weak transcription	Right Atrium	heart
5	chr6:33344000-33348000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:33344000-33348000	Weak transcription	HMEC	breast
7	chr6:33344000-33348200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:33344000-33350200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:33344000-33351800	Weak transcription	Esophagus	oesophagus
10	chr6:33344200-33348000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:33344400-33348000	Weak transcription	NHEK	skin
12	chr6:33344400-33350000	Weak transcription	Placenta	Placenta
13	chr6:33345600-33358800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:33345800-33348000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:33347400-33347800	Weak transcription	K562	blood

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