Variant report

Variant	rs12005243
Chromosome Location	chr9:72797719-72797720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10868610	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10868623	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11141936	0.94[EUR][1000 genomes]
rs11142019	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11142141	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11142346	0.93[AMR][1000 genomes]
rs11791792	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11794396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1180085	0.93[AMR][1000 genomes]
rs1180090	0.93[AMR][1000 genomes]
rs1180093	0.93[AMR][1000 genomes]
rs1180095	0.90[AMR][1000 genomes]
rs1180109	0.84[AMR][1000 genomes]
rs12338030	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12341341	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12343885	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12352944	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2148856	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4507832	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4744983	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59836712	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62570296	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62570306	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62570318	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7023586	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72712267	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs72712271	0.93[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7873075	0.85[AMR][1000 genomes];0.80[ASN][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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72759600-72800000	Weak transcription	Right Ventricle	heart
2	chr9:72775200-72800000	Weak transcription	Esophagus	oesophagus
3	chr9:72777800-72800000	Weak transcription	Fetal Stomach	stomach
4	chr9:72780400-72800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:72780600-72801400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:72780600-72803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:72783800-72801600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:72784600-72802000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:72786400-72800400	Weak transcription	Aorta	Aorta
10	chr9:72788200-72800200	Weak transcription	Left Ventricle	heart
11	chr9:72792800-72801600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:72793000-72842600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:72793200-72804800	Weak transcription	Colon Smooth Muscle	Colon
14	chr9:72793400-72802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:72793600-72799800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:72793800-72800200	Weak transcription	Ovary	ovary
17	chr9:72793800-72801000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:72794000-72799800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:72794000-72799800	Weak transcription	HSMMtube	muscle
20	chr9:72794000-72800000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:72794000-72801600	Weak transcription	HSMM	muscle
22	chr9:72794000-72806800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:72796200-72800000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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