Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:70044515..70046358-chr14:70224948..70226811,2	K562	blood:
2	chr14:70045745..70047839-chr14:70232582..70236616,4	K562	blood:
3	chr14:70044893..70047261-chr14:70192485..70195445,3	K562	blood:
4	chr14:70044627..70046904-chr14:70192270..70194531,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10145804	0.86[EUR][1000 genomes]
rs2025132	0.80[EUR][1000 genomes]
rs2025133	0.87[EUR][1000 genomes]
rs4899301	0.84[EUR][1000 genomes]
rs4899304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899305	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4902728	0.85[ASN][1000 genomes]
rs4902734	0.84[EUR][1000 genomes]
rs4902738	0.80[EUR][1000 genomes]
rs4902739	0.83[EUR][1000 genomes]
rs55727771	0.83[ASN][1000 genomes]
rs55817110	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55923041	0.97[ASN][1000 genomes]
rs56249045	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56791796	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57769796	0.86[ASN][1000 genomes]
rs61980683	0.85[ASN][1000 genomes]
rs61980684	0.95[ASN][1000 genomes]
rs61980693	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61980724	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61982438	0.82[ASN][1000 genomes]
rs61982440	0.82[ASN][1000 genomes]
rs6573892	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6573893	0.84[EUR][1000 genomes]
rs6573894	0.84[EUR][1000 genomes]
rs7140978	0.83[EUR][1000 genomes]
rs7141009	0.86[ASN][1000 genomes]
rs7147881	0.83[EUR][1000 genomes]
rs7494244	0.84[EUR][1000 genomes]
rs873176	0.88[ASN][1000 genomes]
rs927387	0.90[EUR][1000 genomes]
rs9788506	0.84[EUR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70041600-70046800	Weak transcription	Pancreas	Pancrea
2	chr14:70041600-70060400	Weak transcription	Esophagus	oesophagus
3	chr14:70043800-70067200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70045000-70046400	Enhancers	Hela-S3	cervix
5	chr14:70045800-70046000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:70045800-70047400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr14:70045800-70052600	Weak transcription	Right Atrium	heart

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