Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:70049658..70051914-chr14:70113200..70114742,2	K562	blood:
2	chr14:70049075..70051914-chr14:70112777..70114742,2	K562	blood:
3	chr14:70049956..70051974-chr14:70077037..70079541,3	MCF-7	breast:
4	chr14:70042932..70044599-chr14:70048148..70051111,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

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

rs_ID	r²[population]
rs1957369	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2332094	0.82[AMR][1000 genomes]
rs4899303	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4899304	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902728	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55727771	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55817110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55923041	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56249045	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56791796	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57769796	0.85[ASN][1000 genomes]
rs61980683	0.84[ASN][1000 genomes]
rs61980684	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980724	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61982438	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61982440	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6573892	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7141009	0.85[ASN][1000 genomes]
rs7151003	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8006991	0.82[AMR][1000 genomes]
rs873176	0.84[ASN][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	nsv1335	chr14:70036126-70062584	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
2	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:70045800-70052600	Weak transcription	Right Atrium	heart
4	chr14:70046800-70051600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:70047400-70052000	Weak transcription	Lung	lung
6	chr14:70047400-70052400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr14:70047400-70053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:70047400-70053600	Weak transcription	Stomach Mucosa	stomach
9	chr14:70048600-70053400	Weak transcription	Left Ventricle	heart
10	chr14:70049600-70052600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:70049800-70053400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:70049800-70055600	Weak transcription	Hela-S3	cervix

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