Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57091041..57092738-chr12:57114705..57116928,2	MCF-7	breast:
2	chr12:57079533..57085831-chr12:57085877..57093047,17	K562	blood:

Variant related genes	Relation type
ENSG00000110958	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11829496	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11831054	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11833209	0.89[AFR][1000 genomes]
rs11833254	0.86[AFR][1000 genomes]
rs11833282	0.94[AFR][1000 genomes]
rs11837790	0.89[AFR][1000 genomes]
rs11838315	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17118865	0.82[EUR][1000 genomes]
rs17118901	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17118921	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17118953	0.89[AFR][1000 genomes]
rs1800638	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4262757	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258039	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57406430	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60574031	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136370	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7307573	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7307578	0.82[EUR][1000 genomes]
rs74091637	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs74095026	0.82[EUR][1000 genomes]
rs7954160	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7958515	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7974103	0.82[EUR][1000 genomes]
rs7974600	0.82[EUR][1000 genomes]
rs7977632	0.86[AMR][1000 genomes];0.82[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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57083800-57105200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:57084000-57094400	Weak transcription	Fetal Thymus	thymus
3	chr12:57089000-57109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57089800-57094400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:57089800-57094400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:57090000-57094400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:57090000-57094400	Weak transcription	Osteobl	bone
8	chr12:57090000-57094800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:57090200-57094400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:57090200-57094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:57090200-57094400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:57090400-57093000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:57090400-57094400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:57090400-57104600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:57090400-57104800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:57090600-57092200	Weak transcription	K562	blood

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