Variant report

Variant	rs12897856
Chromosome Location	chr14:80944388-80944389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483951	0.84[AMR][1000 genomes]
rs12436273	0.84[AMR][1000 genomes]
rs12894810	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12895468	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17528984	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34806974	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35334352	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4415953	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899768	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899769	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4903915	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7143355	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7145557	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7145603	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8005349	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8013875	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs935728	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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:17 , 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	chr14:80940400-80949200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:80941000-80944800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:80941000-80944800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:80941000-80945000	Enhancers	NHDF-Ad	bronchial
6	chr14:80941200-80945400	Enhancers	NHLF	lung
7	chr14:80941600-80948800	Weak transcription	Psoas Muscle	Psoas
8	chr14:80941600-80989200	Weak transcription	Left Ventricle	heart
9	chr14:80941800-80956800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:80942600-80944600	Enhancers	HSMM	muscle
11	chr14:80943400-80944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:80943400-80944600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr14:80943600-80945000	Enhancers	Dnd41	blood
14	chr14:80943800-80944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:80944000-80945400	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:80944200-80949600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr14:80944200-80957600	Weak transcription	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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