Variant report

Variant	rs10501593
Chromosome Location	chr11:85328455-85328456
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85328357..85331233-chr11:85338139..85341923,3	K562	blood:
2	chr11:85326898..85329730-chr11:85338116..85341045,2	K562	blood:
3	chr11:85325599..85330244-chr11:85330316..85333525,6	K562	blood:
4	chr11:85327193..85329301-chr11:85331171..85334042,2	K562	blood:
5	chr11:85328031..85330976-chr11:85338316..85340867,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12099145	1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17148234	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17148242	0.91[YRI][hapmap];0.85[AMR][1000 genomes]
rs17148285	0.85[AMR][1000 genomes]
rs17148316	0.87[YRI][hapmap];0.87[AMR][1000 genomes]
rs56047795	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56401259	0.87[AMR][1000 genomes]
rs56838978	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57309067	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57313830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57361884	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60032790	0.87[AMR][1000 genomes]
rs60192818	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734322	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61169921	0.85[AMR][1000 genomes]
rs61180955	0.85[AMR][1000 genomes]
rs61198962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61465434	0.85[AMR][1000 genomes]
rs6592254	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6592257	0.96[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7116532	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7116553	0.85[AMR][1000 genomes]
rs7122987	0.92[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs744173	0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7938991	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7942218	0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7946793	0.92[YRI][hapmap]
rs7949114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7952219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85317800-85337600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:85320000-85337600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:85320000-85337600	Weak transcription	Psoas Muscle	Psoas
4	chr11:85321800-85336600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:85323400-85337600	Weak transcription	Left Ventricle	heart
6	chr11:85323800-85337600	Weak transcription	Liver	Liver
7	chr11:85324800-85338000	Weak transcription	Fetal Brain Male	brain
8	chr11:85328000-85330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:85328400-85330600	Weak transcription	HepG2	liver

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