Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28554693..28556296-chr6:28564365..28566355,2	K562	blood:
2	chr6:28563594..28565340-chr6:28579660..28581510,2	K562	blood:
3	chr6:28558273..28560922-chr6:28562703..28565525,2	K562	blood:
4	chr6:28553736..28559121-chr6:28563340..28566855,6	MCF-7	breast:
5	chr6:28457438..28459900-chr6:28562762..28564476,2	K562	blood:
6	chr6:28551877..28554406-chr6:28561724..28564645,2	K562	blood:
7	chr6:28560257..28562303-chr6:28562360..28564430,2	MCF-7	breast:
8	chr6:28554693..28558246-chr6:28562930..28566355,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246350	Chromatin interaction
ENSG00000232040	Chromatin interaction

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12660763	0.82[AMR][1000 genomes]
rs12661782	0.81[AMR][1000 genomes]
rs12662929	0.94[ASN][1000 genomes]
rs16894169	0.97[ASN][1000 genomes]
rs16894171	0.97[ASN][1000 genomes]
rs16894191	0.95[ASN][1000 genomes]
rs2064424	0.81[AMR][1000 genomes]
rs2143766	0.90[EUR][1000 genomes]
rs35327256	0.87[AMR][1000 genomes]
rs392230	0.90[EUR][1000 genomes]
rs4711173	0.84[ASN][1000 genomes]
rs4711174	0.95[AFR][1000 genomes]
rs4711175	0.91[AFR][1000 genomes]
rs4713166	0.81[AMR][1000 genomes]
rs4713173	0.96[ASN][1000 genomes]
rs4947335	0.99[ASN][1000 genomes]
rs55963280	0.97[ASN][1000 genomes]
rs56227726	0.97[ASN][1000 genomes]
rs58490223	0.96[ASN][1000 genomes]
rs62402376	0.84[ASN][1000 genomes]
rs62402378	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62402381	0.95[AFR][1000 genomes]
rs62402390	0.91[ASN][1000 genomes]
rs62402392	0.97[ASN][1000 genomes]
rs62402394	0.96[ASN][1000 genomes]
rs62406542	0.96[ASN][1000 genomes]
rs62406553	0.89[ASN][1000 genomes]
rs6456824	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6933732	0.85[AMR][1000 genomes]
rs6942252	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72850099	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs769189	0.81[AMR][1000 genomes]
rs7746909	0.95[ASN][1000 genomes]
rs7767144	0.97[ASN][1000 genomes]
rs9295775	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv462666	chr6:28417222-28574415	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv601210	chr6:28417222-28574415	Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28558000-28565000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:28559600-28565800	Weak transcription	K562	blood
3	chr6:28564000-28565200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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