Variant report

Variant	rs12867999
Chromosome Location	chr13:38322177-38322178
allele	A/G
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:27)

rs_ID	r²[population]
rs11147667	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11147668	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11147670	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11618049	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11620255	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430621	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12853617	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12854825	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12858218	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12861121	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12865577	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12868646	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12869304	0.82[AMR][1000 genomes]
rs12875518	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12875577	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12876565	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1333358	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17262400	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924300	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924301	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2025402	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2025403	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2184124	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35989386	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4365182	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61955520	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61955521	0.98[AMR][1000 genomes];0.94[EUR][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	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38307600-38330800	Weak transcription	Ovary	ovary
2	chr13:38308200-38328200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:38316000-38328200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:38319000-38323000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:38319800-38322200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:38320400-38330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:38320600-38322200	Enhancers	HUVEC	blood vessel
8	chr13:38320600-38322200	Enhancers	NHLF	lung
9	chr13:38320800-38322400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:38320800-38322400	Enhancers	Hela-S3	cervix
11	chr13:38320800-38326400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:38321000-38322200	Enhancers	HMEC	breast
13	chr13:38321000-38322400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:38321000-38322400	Enhancers	NHDF-Ad	bronchial
15	chr13:38321000-38322400	Enhancers	Osteobl	bone
16	chr13:38321200-38322200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:38321400-38322200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:38321400-38322200	Enhancers	Rectal Smooth Muscle	rectum
19	chr13:38321400-38325200	Weak transcription	Aorta	Aorta
20	chr13:38322000-38326400	Weak transcription	HSMMtube	muscle

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