Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46764818..46766681-chr12:47330944..47333454,2	K562	blood:
2	chr12:46764966..46766816-chr12:47330636..47333460,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

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

rs_ID	r²[population]
rs10785646	0.85[EUR][1000 genomes]
rs10881011	0.83[EUR][1000 genomes]
rs10881013	0.82[EUR][1000 genomes]
rs11183665	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11183666	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11183671	0.85[EUR][1000 genomes]
rs11183672	0.85[EUR][1000 genomes]
rs11609950	0.83[EUR][1000 genomes]
rs12423364	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465221	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465222	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465223	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465229	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465230	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465232	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465597	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465617	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4586261	0.86[EUR][1000 genomes]
rs6582686	0.80[EUR][1000 genomes]
rs7138703	0.86[EUR][1000 genomes]
rs7295618	0.80[EUR][1000 genomes]
rs7966987	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:47331600-47333000	Enhancers	HepG2	liver
2	chr12:47332400-47335400	Weak transcription	HSMM	muscle
3	chr12:47332400-47335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:47332400-47335600	Weak transcription	HMEC	breast
5	chr12:47332400-47335800	Weak transcription	Osteobl	bone
6	chr12:47332400-47336200	Weak transcription	NH-A	brain
7	chr12:47332400-47337600	Weak transcription	A549	lung
8	chr12:47332600-47333200	Weak transcription	HSMMtube	muscle
9	chr12:47332600-47335400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:47332600-47335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:47332600-47335800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:47332600-47336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:47332800-47335600	Weak transcription	NHEK	skin
14	chr12:47332800-47336600	Weak transcription	Liver	Liver
15	chr12:47332800-47338000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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