Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:169463126..169465352-chr1:169467023..169469114,3	K562	blood:
2	chr1:169463675..169465938-chr1:169469151..169470864,2	K562	blood:
3	chr1:169456428..169460568-chr1:169464667..169468195,6	K562	blood:
4	chr1:169464842..169466756-chr1:169497919..169499478,2	MCF-7	breast:
5	chr1:169462387..169464919-chr1:169482151..169485125,2	MCF-7	breast:
6	chr1:169464611..169466208-chr1:169487405..169490324,2	K562	blood:
7	chr1:169463786..169466732-chr1:169496061..169498768,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198734	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2228672	1.00[AMR][1000 genomes]
rs3917725	1.00[AMR][1000 genomes]
rs3917746	1.00[AMR][1000 genomes]
rs3917758	1.00[AMR][1000 genomes]
rs3917791	1.00[AMR][1000 genomes]
rs3917798	1.00[AMR][1000 genomes]
rs3917808	1.00[AMR][1000 genomes]
rs3917809	1.00[AMR][1000 genomes]
rs3917822	1.00[AMR][1000 genomes]
rs3917825	1.00[AMR][1000 genomes]
rs3917829	1.00[AMR][1000 genomes]
rs57214726	1.00[EUR][1000 genomes]
rs57722630	1.00[EUR][1000 genomes]
rs60917555	1.00[EUR][1000 genomes]
rs61239182	1.00[EUR][1000 genomes]
rs74121612	1.00[EUR][1000 genomes]
rs74121613	1.00[EUR][1000 genomes]
rs74121614	1.00[EUR][1000 genomes]
rs74121621	1.00[EUR][1000 genomes]
rs74121680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332481	1.00[AMR][1000 genomes]
rs9332484	1.00[AMR][1000 genomes]
rs9332487	1.00[AMR][1000 genomes]
rs9332495	1.00[AMR][1000 genomes]
rs9332512	1.00[AMR][1000 genomes]
rs9332521	1.00[AMR][1000 genomes]
rs9332551	1.00[AMR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169462200-169465400	Enhancers	Placenta	Placenta
2	chr1:169464000-169467200	Weak transcription	HepG2	liver
3	chr1:169464200-169465000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:169464200-169465400	Enhancers	HMEC	breast
5	chr1:169464200-169465600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:169464200-169465600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:169464200-169465800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:169464200-169465800	Enhancers	NHEK	skin
9	chr1:169464400-169465000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:169464400-169465000	Enhancers	Fetal Heart	heart
11	chr1:169464400-169465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:169464600-169465400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:169464800-169465600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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