Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28604890..28606588-chr6:28612280..28614878,2	K562	blood:
2	chr6:28579846..28585618-chr6:28609150..28616432,10	K562	blood:

Variant related genes	Relation type
ENSG00000232040	Chromatin interaction

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

rs_ID	r²[population]
rs12662929	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16894169	0.80[EUR][1000 genomes]
rs16894171	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs16894191	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2057296	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711174	0.91[ASN][1000 genomes]
rs4711175	0.93[ASN][1000 genomes]
rs4711178	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713173	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713175	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4947335	0.96[AFR][1000 genomes]
rs55776584	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55963280	0.93[AFR][1000 genomes]
rs56227726	0.81[EUR][1000 genomes]
rs58490223	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62402381	0.91[ASN][1000 genomes]
rs62402392	0.96[AFR][1000 genomes]
rs62402394	0.94[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62402400	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62406542	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7746909	0.80[EUR][1000 genomes]
rs7767144	0.80[EUR][1000 genomes]
rs9295775	0.81[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	nsv1020689	chr6:28449137-28635171	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv830621	chr6:28473951-28675709	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1031671	chr6:28575172-28678126	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28611600-28616000	Weak transcription	K562	blood
2	chr6:28612200-28615800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:28612200-28615800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr6:28612200-28616000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:28612200-28616000	Weak transcription	Placenta	Placenta
6	chr6:28612400-28615800	Weak transcription	NHEK	skin
7	chr6:28612400-28616000	Weak transcription	Hela-S3	cervix
8	chr6:28613800-28616000	Weak transcription	A549	lung
9	chr6:28614200-28615800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:28614400-28614800	Enhancers	Fetal Heart	heart

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