Variant report

Variant	rs72786301
Chromosome Location	chr5:111311881-111311882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs152291	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs154082	0.84[AMR][1000 genomes]
rs154083	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs154092	0.92[EUR][1000 genomes]
rs154142	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs154143	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1644466	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1677320	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs168876	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs171738	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs173583	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs173900	0.80[EUR][1000 genomes]
rs2201415	1.00[AFR][1000 genomes]
rs248745	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs248746	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs248747	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs256036	0.92[EUR][1000 genomes]
rs256037	0.89[EUR][1000 genomes]
rs256046	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26437	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26571	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26572	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs26573	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2913546	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34929	0.85[EUR][1000 genomes]
rs388450	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs458532	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55684472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55818288	1.00[AFR][1000 genomes]
rs55931388	1.00[AFR][1000 genomes]
rs55948494	1.00[AFR][1000 genomes]
rs55954860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56079425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56266887	1.00[AFR][1000 genomes]
rs696829	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs698403	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72786287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72786292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72788217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111304600-111312000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:111305800-111313400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:111308800-111312000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:111309400-111313800	Enhancers	Osteobl	bone
5	chr5:111309800-111313000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:111309800-111319600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:111310000-111312000	Weak transcription	HSMM	muscle
8	chr5:111310000-111312200	Weak transcription	NHLF	lung
9	chr5:111310600-111314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:111310800-111312000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:111311000-111312000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:111311000-111312400	Weak transcription	Fetal Brain Female	brain
13	chr5:111311000-111315800	Weak transcription	Psoas Muscle	Psoas
14	chr5:111311200-111312400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:111311200-111312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:111311200-111320000	Weak transcription	Left Ventricle	heart
17	chr5:111311200-111320000	Weak transcription	Right Ventricle	heart
18	chr5:111311400-111312000	Weak transcription	Fetal Lung	lung
19	chr5:111311400-111313000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:111311600-111312000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:111311800-111312000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:111311800-111312400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:111311800-111312800	Enhancers	Adipose Nuclei	Adipose
24	chr5:111311800-111313000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:111311800-111313000	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:111311800-111313000	Enhancers	NHDF-Ad	bronchial
27	chr5:111311800-111313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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