Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50858766..50861692-chr7:50931312..50932853,2	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10085451	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1016514	1.00[CHB][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10231795	0.86[AMR][1000 genomes]
rs10248879	0.89[AMR][1000 genomes]
rs10249802	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10258680	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10274003	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10480959	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11761273	0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11767537	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11769613	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28653762	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28712694	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28729268	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56873409	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6967024	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6968970	0.91[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7779981	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7789720	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7804349	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr7:50926200-50934600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:50926200-50935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:50927000-50935600	Weak transcription	Pancreas	Pancrea
4	chr7:50930400-50934600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:50932200-50932800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:50932200-50934400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:50932400-50933200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:50932400-50933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:50932400-50935000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:50932600-50933000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:50932600-50933200	Enhancers	Left Ventricle	heart
12	chr7:50932600-50934200	Enhancers	HUES48 Cell Line	embryonic stem cell

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