Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:169461586..169463746-chr1:169479948..169481898,2	MCF-7	breast:
2	chr1:169460825..169464071-chr1:169495499..169498354,3	MCF-7	breast:
3	chr1:169461542..169463578-chr1:169476860..169479328,2	K562	blood:
4	chr1:169462387..169464919-chr1:169482151..169485125,2	MCF-7	breast:
5	chr1:169461099..169462759-chr1:169496804..169499532,2	MCF-7	breast:
6	chr1:169460324..169462959-chr1:169483815..169485855,2	K562	blood:

Variant related genes	Relation type
ENSG00000198734	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12022009	0.90[EUR][1000 genomes]
rs12040141	0.95[EUR][1000 genomes]
rs12042044	0.95[EUR][1000 genomes]
rs12727318	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13306334	0.95[EUR][1000 genomes]
rs16862153	0.82[EUR][1000 genomes]
rs16862176	0.86[EUR][1000 genomes]
rs16862180	0.86[EUR][1000 genomes]
rs16862236	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301517	0.95[EUR][1000 genomes]
rs34057682	0.82[EUR][1000 genomes]
rs34989506	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4551642	0.82[EUR][1000 genomes]
rs6008	0.90[EUR][1000 genomes]
rs66937324	0.82[EUR][1000 genomes]
rs67795749	0.82[EUR][1000 genomes]
rs7551623	0.95[EUR][1000 genomes]
rs9332623	0.95[EUR][1000 genomes]
rs9332624	0.95[EUR][1000 genomes]
rs9332628	0.95[EUR][1000 genomes]
rs9332647	0.95[EUR][1000 genomes]
rs9332658	0.95[EUR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169456200-169464000	Weak transcription	Esophagus	oesophagus
2	chr1:169456600-169464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:169456600-169464200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:169456600-169464200	Weak transcription	HMEC	breast
5	chr1:169457000-169463800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:169457000-169464400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:169457800-169464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:169458600-169464800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:169461200-169463400	Weak transcription	HepG2	liver
10	chr1:169461400-169464200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:169461600-169464400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:169462200-169465400	Enhancers	Placenta	Placenta

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