Variant report

Variant	rs2197984
Chromosome Location	chr14:80941804-80941805
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1013010	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10130859	0.90[ASN][1000 genomes]
rs10146495	0.90[ASN][1000 genomes]
rs11159463	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12147045	0.95[ASN][1000 genomes]
rs12587812	0.90[ASN][1000 genomes]
rs12894863	0.90[ASN][1000 genomes]
rs1868631	0.88[ASN][1000 genomes]
rs1868632	0.81[ASN][1000 genomes]
rs2044774	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2122430	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122433	0.90[ASN][1000 genomes]
rs2167149	0.90[ASN][1000 genomes]
rs2197985	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197987	0.90[ASN][1000 genomes]
rs2371291	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371292	0.88[ASN][1000 genomes]
rs2371293	0.88[ASN][1000 genomes]
rs2371294	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371295	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2371297	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2371298	0.90[ASN][1000 genomes]
rs2371299	0.90[ASN][1000 genomes]
rs2371300	0.90[ASN][1000 genomes]
rs2371353	0.90[ASN][1000 genomes]
rs2888003	0.90[ASN][1000 genomes]
rs4627260	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4899770	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899771	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4899772	0.88[ASN][1000 genomes]
rs4899773	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4903916	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4903917	0.88[ASN][1000 genomes]
rs4903919	0.90[ASN][1000 genomes]
rs4903920	0.90[ASN][1000 genomes]
rs4903921	0.90[ASN][1000 genomes]
rs4903922	0.90[ASN][1000 genomes]
rs4903923	0.90[ASN][1000 genomes]
rs4903924	0.88[ASN][1000 genomes]
rs6574584	0.90[ASN][1000 genomes]
rs7141716	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143767	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144280	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7144755	0.88[ASN][1000 genomes]
rs7156719	0.90[ASN][1000 genomes]
rs7158378	0.88[ASN][1000 genomes]
rs7159700	0.90[ASN][1000 genomes]
rs7160179	0.90[ASN][1000 genomes]
rs8003205	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8016077	0.88[ASN][1000 genomes]
rs8020519	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs935730	0.88[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers 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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80937000-80943000	Strong transcription	Skeletal Muscle Female	skeletal muscle
2	chr14:80939200-80980800	Weak transcription	Primary T cells from cord blood	blood
3	chr14:80940400-80949200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:80941000-80942000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr14:80941000-80942600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:80941000-80944800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:80941000-80944800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:80941000-80945000	Enhancers	NHDF-Ad	bronchial
9	chr14:80941200-80942000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:80941200-80944000	Enhancers	Osteobl	bone
11	chr14:80941200-80945400	Enhancers	NHLF	lung
12	chr14:80941400-80942200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:80941400-80942400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:80941400-80942400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:80941600-80942400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:80941600-80942600	Weak transcription	HSMM	muscle
17	chr14:80941600-80948800	Weak transcription	Psoas Muscle	Psoas
18	chr14:80941600-80989200	Weak transcription	Left Ventricle	heart
19	chr14:80941800-80956800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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