Variant report

Variant	rs1811543
Chromosome Location	chr4:91240604-91240605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10008665	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10026624	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10035064	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10440368	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10776487	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1078765	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12642077	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13103126	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1461740	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1461741	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1461742	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17227797	0.89[EUR][1000 genomes]
rs1870795	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1903579	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2126282	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2169399	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4353865	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4694023	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6821011	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6835114	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6847035	0.85[EUR][1000 genomes]
rs6854353	0.85[EUR][1000 genomes]
rs733661	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7656001	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7663503	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7663699	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7669038	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7679540	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7692505	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1007826	chr4:91049593-91438961	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537177	chr4:91049593-91438961	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv999065	chr4:91049593-91520073	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv879541	chr4:91156104-91253355	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879542	chr4:91185206-91287204	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91222200-91244000	Weak transcription	Pancreas	Pancrea
2	chr4:91228200-91244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:91228400-91245000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr4:91228600-91249600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:91229800-91246200	Weak transcription	Fetal Intestine Large	intestine
6	chr4:91231800-91249600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:91233400-91244000	Weak transcription	Fetal Intestine Small	intestine
8	chr4:91235000-91243400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:91235000-91244800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:91237800-91248200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:91238000-91249600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:91239200-91247800	Weak transcription	Fetal Kidney	kidney
13	chr4:91239400-91241800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:91239400-91244200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:91239400-91249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:91239600-91249600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:91240400-91241400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:91240400-91242000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:91240600-91240800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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