Variant report

Variant	rs11750254
Chromosome Location	chr5:112718137-112718138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10519354	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11241202	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11738347	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11738587	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11739509	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11740807	0.95[ASN][1000 genomes]
rs11741176	0.95[ASN][1000 genomes]
rs11741860	0.95[ASN][1000 genomes]
rs11746828	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748646	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11750752	0.95[ASN][1000 genomes]
rs13162970	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13177178	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13182359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1318772	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13189851	0.83[EUR][1000 genomes]
rs164252	0.89[EUR][1000 genomes]
rs17324474	0.83[EUR][1000 genomes]
rs17325908	0.87[ASN][1000 genomes]
rs17326496	1.00[ASN][1000 genomes]
rs17327139	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182988	0.87[EUR][1000 genomes]
rs185336	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs255857	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs255859	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs255870	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs255871	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs26962	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs26965	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs26980	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26982	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26984	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs26986	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs26989	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34361144	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34437714	0.95[ASN][1000 genomes]
rs34539248	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34625553	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111059	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35352601	0.95[ASN][1000 genomes]
rs35451724	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35568473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36611	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36613	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs414475	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs421515	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs446272	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs458055	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58833244	0.95[ASN][1000 genomes]
rs66629800	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66957398	0.95[ASN][1000 genomes]
rs67344014	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67767339	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67894881	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs68189049	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71577443	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788641	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72797916	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112707800-112719000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:112714800-112718600	Enhancers	Dnd41	blood
3	chr5:112715000-112720600	Weak transcription	Aorta	Aorta
4	chr5:112715200-112718200	Weak transcription	HUVEC	blood vessel
5	chr5:112716200-112719400	Enhancers	HMEC	breast
6	chr5:112716400-112719400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:112716400-112719800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:112716800-112720600	Weak transcription	Stomach Mucosa	stomach
9	chr5:112717000-112718400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:112717000-112729400	Weak transcription	Fetal Stomach	stomach
11	chr5:112717200-112718400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:112717200-112718400	Weak transcription	Osteobl	bone
13	chr5:112717400-112719200	Enhancers	NHEK	skin
14	chr5:112717400-112719400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:112718000-112718200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:112718000-112718200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:112718000-112718800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:112718000-112719000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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