Variant report

Variant	rs12249521
Chromosome Location	chr10:112794091-112794092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11195378	0.82[ASN][1000 genomes]
rs11195384	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11195386	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs11195389	0.83[ASN][1000 genomes]
rs11195392	0.88[ASN][1000 genomes]
rs11195393	0.93[ASN][1000 genomes]
rs12241684	0.83[AFR][1000 genomes]
rs12244153	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12245003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12248431	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12248632	0.82[ASN][1000 genomes]
rs12253950	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12256152	0.82[ASN][1000 genomes]
rs12264063	0.83[AFR][1000 genomes]
rs12266042	0.87[ASN][1000 genomes]
rs12267661	0.81[ASN][1000 genomes]
rs12268160	0.85[ASN][1000 genomes]
rs12268606	0.82[ASN][1000 genomes]
rs1327552	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13306146	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17128270	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17128355	0.91[AFR][1000 genomes]
rs1800038	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3750621	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3750622	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4917593	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4918610	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4918620	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4918622	0.83[AFR][1000 genomes]
rs55879225	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56005122	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56302131	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56350255	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs59265487	0.83[AFR][1000 genomes]
rs72819772	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804245	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1048444	chr10:112724159-112795159	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 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	chr10:112765000-112794200	Weak transcription	NH-A	brain
2	chr10:112765000-112794400	Weak transcription	NHLF	lung
3	chr10:112765200-112794200	Weak transcription	NHEK	skin
4	chr10:112770800-112798800	Weak transcription	HMEC	breast
5	chr10:112781000-112794200	Weak transcription	HSMM	muscle
6	chr10:112783000-112794200	Weak transcription	Osteobl	bone
7	chr10:112783000-112794400	Weak transcription	HSMMtube	muscle
8	chr10:112783400-112801400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:112783600-112794200	Weak transcription	NHDF-Ad	bronchial
10	chr10:112783800-112794200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:112792600-112794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:112792800-112800400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:112793000-112794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:112793000-112795800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:112793400-112794400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:112793400-112795000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:112794000-112794400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr10:112794000-112794800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr10:112794000-112794800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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