Variant report

Variant	rs12147045
Chromosome Location	chr14:80950307-80950308
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1013010	1.00[ASN][1000 genomes]
rs10130859	0.95[ASN][1000 genomes]
rs10146495	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12587812	0.95[ASN][1000 genomes]
rs12893026	0.80[ASN][1000 genomes]
rs12894863	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1868631	0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1868632	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2044774	0.95[ASN][1000 genomes]
rs2122430	0.95[ASN][1000 genomes]
rs2122433	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2167149	0.83[CEU][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs2197984	0.95[ASN][1000 genomes]
rs2197985	0.95[ASN][1000 genomes]
rs2197987	0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2371291	1.00[ASN][1000 genomes]
rs2371292	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2371293	0.93[ASN][1000 genomes]
rs2371294	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2371295	0.93[ASN][1000 genomes]
rs2371297	0.95[ASN][1000 genomes]
rs2371298	0.95[ASN][1000 genomes]
rs2371299	0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2371300	0.95[ASN][1000 genomes]
rs2371353	0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2888003	0.95[ASN][1000 genomes]
rs4899770	0.93[ASN][1000 genomes]
rs4899771	0.93[ASN][1000 genomes]
rs4899772	0.93[ASN][1000 genomes]
rs4899773	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4903916	0.93[ASN][1000 genomes]
rs4903917	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4903919	0.95[ASN][1000 genomes]
rs4903920	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4903921	0.90[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4903922	0.95[ASN][1000 genomes]
rs4903923	0.95[ASN][1000 genomes]
rs4903924	0.95[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6574584	0.95[ASN][1000 genomes]
rs7141716	0.93[ASN][1000 genomes]
rs7143767	0.95[ASN][1000 genomes]
rs7144280	0.95[ASN][1000 genomes]
rs7144755	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7156719	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7158378	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7159700	0.95[ASN][1000 genomes]
rs7160179	0.86[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs72689020	0.88[EUR][1000 genomes]
rs72689031	0.81[EUR][1000 genomes]
rs8003205	0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8016077	0.93[ASN][1000 genomes]
rs8020519	1.00[ASN][1000 genomes]
rs935730	0.91[CHD][hapmap];1.00[JPT][hapmap];0.93[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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80939200-80980800	Weak transcription	Primary T cells from cord blood	blood
2	chr14:80941600-80989200	Weak transcription	Left Ventricle	heart
3	chr14:80941800-80956800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr14:80944200-80957600	Weak transcription	Fetal Thymus	thymus
5	chr14:80944600-80956800	Weak transcription	HSMM	muscle
6	chr14:80945000-80956800	Weak transcription	Dnd41	blood
7	chr14:80949600-80952400	Strong transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:80949800-80951000	Weak transcription	Psoas Muscle	Psoas

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