Variant report

Variant	rs1001592
Chromosome Location	chr11:87134768-87134769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:87134513..87137251-chr11:87164100..87165972,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10751160	0.84[EUR][1000 genomes]
rs11235140	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235146	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235149	0.84[EUR][1000 genomes]
rs11235153	0.83[EUR][1000 genomes]
rs12284060	0.84[ASN][1000 genomes]
rs2186726	0.83[ASN][1000 genomes]
rs2186728	0.96[ASN][1000 genomes]
rs2212463	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4445657	0.83[ASN][1000 genomes]
rs4944707	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7107761	0.84[EUR][1000 genomes]
rs7111686	0.86[EUR][1000 genomes]
rs7127837	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131614	0.84[ASN][1000 genomes]
rs7932908	0.83[EUR][1000 genomes]
rs875751	0.84[ASN][1000 genomes]
rs875752	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv555714	chr11:87058981-87399218	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1039172	chr11:87068731-87385458	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87131000-87143000	Weak transcription	Adipose Nuclei	Adipose
2	chr11:87133600-87135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:87133600-87136400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:87133600-87136600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:87133800-87135800	Weak transcription	Osteobl	bone
6	chr11:87133800-87136000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:87133800-87136000	Weak transcription	NHLF	lung
8	chr11:87134000-87135800	Weak transcription	HSMM	muscle
9	chr11:87134000-87136000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:87134000-87136200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:87134000-87136200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:87134000-87136200	Weak transcription	NH-A	brain
13	chr11:87134000-87136400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:87134000-87136400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:87134000-87137200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:87134200-87136000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:87134200-87136400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:87134200-87136800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:87134200-87137200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:87134400-87134800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:87134400-87136200	Weak transcription	NHEK	skin
22	chr11:87134400-87136600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:87134600-87135600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:87134600-87135600	Weak transcription	NHDF-Ad	bronchial

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