Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70492362..70495132-chr14:70501110..70503628,2	K562	blood:
2	chr14:70495096..70497706-chr14:70500490..70502321,2	MCF-7	breast:

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

rs_ID	r²[population]
rs1156443	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1156446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12101270	0.81[AMR][1000 genomes]
rs12885068	0.81[AMR][1000 genomes]
rs12887943	0.81[AMR][1000 genomes]
rs12890357	0.81[AMR][1000 genomes]
rs17107547	0.81[AMR][1000 genomes]
rs17107635	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17107637	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17107651	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1998334	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34311408	0.81[AMR][1000 genomes]
rs3742912	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3825739	0.81[AMR][1000 genomes]
rs56029860	0.84[ASN][1000 genomes]
rs56242824	0.81[AMR][1000 genomes]
rs57609901	0.81[AMR][1000 genomes]
rs67294558	0.81[AMR][1000 genomes]
rs72728002	0.83[AMR][1000 genomes]
rs72729803	0.83[AMR][1000 genomes]
rs72729808	0.81[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:70497200-70503000	Weak transcription	Liver	Liver
3	chr14:70497400-70508400	Weak transcription	Fetal Brain Female	brain
4	chr14:70499000-70502400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:70500000-70501400	Weak transcription	Spleen	Spleen
6	chr14:70500000-70502400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:70500000-70502400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:70500200-70503200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:70500400-70512800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70501000-70501600	Enhancers	Pancreas	Pancrea
11	chr14:70501200-70501800	Enhancers	Gastric	stomach

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