Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:168735121..168737142-chr1:169074558..169076672,2	MCF-7	breast:
2	chr1:168734613..168736661-chr1:168749781..168751775,2	K562	blood:
3	chr1:168735904..168737814-chr1:168742355..168744787,2	K562	blood:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction
ENSG00000235736	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10800380	0.80[AFR][1000 genomes]
rs10918977	0.93[EUR][1000 genomes]
rs10918978	0.93[EUR][1000 genomes]
rs10918979	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10918980	0.98[EUR][1000 genomes]
rs10918981	0.88[AFR][1000 genomes]
rs12060876	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12063208	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12065214	0.84[AFR][1000 genomes]
rs12065661	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12401569	0.88[ASN][1000 genomes]
rs12401592	1.00[ASN][1000 genomes]
rs12403860	0.88[ASN][1000 genomes]
rs12410077	1.00[ASN][1000 genomes]
rs12411200	0.88[ASN][1000 genomes]
rs2017633	0.98[EUR][1000 genomes]
rs35915405	1.00[ASN][1000 genomes]
rs58493284	1.00[ASN][1000 genomes]
rs59684779	0.99[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs74121379	1.00[ASN][1000 genomes]
rs999310	1.00[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168726200-168736600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:168730000-168737200	Weak transcription	Left Ventricle	heart
3	chr1:168730400-168743600	Weak transcription	Psoas Muscle	Psoas
4	chr1:168733000-168737000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:168733600-168736800	Weak transcription	NHEK	skin
6	chr1:168733600-168737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:168733800-168737000	Weak transcription	HMEC	breast
8	chr1:168734200-168739200	Enhancers	Fetal Lung	lung
9	chr1:168735200-168737600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:168735600-168739200	Enhancers	Fetal Heart	heart
11	chr1:168736200-168737200	Weak transcription	Liver	Liver
12	chr1:168736200-168738000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:168736200-168741800	Weak transcription	Stomach Mucosa	stomach
14	chr1:168736200-168743000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:168736400-168736800	Weak transcription	HepG2	liver

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