Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:33238834..33242273-chr6:33348728..33351900,3	K562	blood:
2	chr6:33350341..33351862-chr6:33353859..33356197,2	K562	blood:
3	chr6:33350087..33352952-chr6:33384695..33386243,2	K562	blood:
4	chr6:33254790..33256501-chr6:33349050..33351676,2	K562	blood:
5	chr6:33287030..33291405-chr6:33349040..33354148,5	MCF-7	breast:

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

rs_ID	r²[population]
rs172435	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1977139	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs211472	0.88[EUR][1000 genomes]
rs2941555	0.94[EUR][1000 genomes]
rs3119019	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3119021	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3119025	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3119027	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3130012	0.84[EUR][1000 genomes]
rs3130013	0.91[EUR][1000 genomes]
rs3130032	1.00[ASN][1000 genomes]
rs3130104	0.91[EUR][1000 genomes]
rs3130273	0.94[EUR][1000 genomes]
rs395832	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs406009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs413722	1.00[ASN][1000 genomes]
rs421328	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs449978	1.00[CHB][hapmap]
rs452513	0.85[AMR][1000 genomes]
rs498066	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6910721	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs761582	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7762843	1.00[CHB][hapmap]

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

No data

Chromatin state (count:12 , 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	chr6:33343800-33359200	Weak transcription	Right Atrium	heart
4	chr6:33344000-33351800	Weak transcription	Esophagus	oesophagus
5	chr6:33345600-33358800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:33348400-33358800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:33348600-33352600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:33350200-33351800	Enhancers	Stomach Smooth Muscle	stomach
9	chr6:33350200-33352400	Weak transcription	K562	blood
10	chr6:33350200-33352600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:33350600-33351600	Weak transcription	Colon Smooth Muscle	Colon
12	chr6:33351200-33351800	Enhancers	HepG2	liver

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