Variant report

Variant	rs12807799
Chromosome Location	chr11:101305271-101305272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:101305136..101310354-chr11:101310861..101314380,7	MCF-7	breast:
2	chr11:100992008..101001878-chr11:101300412..101311512,29	MCF-7	breast:
3	chr11:101299708..101303554-chr11:101304150..101306716,3	MCF-7	breast:
4	chr11:101214168..101217557-chr11:101302222..101305735,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11224726	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11224743	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11224745	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11224747	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11224749	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11224750	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11224759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11224760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12221599	0.92[EUR][1000 genomes]
rs12222760	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12225785	0.92[EUR][1000 genomes]
rs12226619	0.86[EUR][1000 genomes]
rs12226883	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12785425	0.86[EUR][1000 genomes]
rs12786491	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12788470	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12789079	0.86[EUR][1000 genomes]
rs12790277	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12790740	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12794328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12794587	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12794694	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12796675	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12797620	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12797860	0.86[EUR][1000 genomes]
rs12798887	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12800455	0.98[EUR][1000 genomes]
rs12803364	0.88[EUR][1000 genomes]
rs12805525	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12805898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1938988	0.92[EUR][1000 genomes]
rs1939001	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35508193	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4520564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71462683	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71462684	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9633973	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9633974	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9633975	0.93[AMR][1000 genomes];0.89[EUR][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	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	esv2753322	chr11:101052790-101311790	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101300000-101307600	Enhancers	Fetal Lung	lung
2	chr11:101301200-101306200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:101302000-101306400	Weak transcription	NHLF	lung
4	chr11:101302000-101316800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:101302200-101306400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:101302600-101307400	Enhancers	Colon Smooth Muscle	Colon
7	chr11:101304000-101306400	Weak transcription	Fetal Stomach	stomach
8	chr11:101304200-101305400	Enhancers	HMEC	breast
9	chr11:101304400-101312400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:101304800-101305400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:101304800-101305400	Enhancers	NHEK	skin
12	chr11:101305000-101312200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:101305200-101305400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr11:101305200-101306200	Weak transcription	Ovary	ovary
15	chr11:101305200-101307400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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