Variant report

Variant	rs6114734
Chromosome Location	chr20:24439248-24439249
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1326302	0.88[EUR][1000 genomes]
rs1326303	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16986641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4815272	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57281014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6114735	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs61548213	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs722602	0.90[CEU][hapmap];0.86[EUR][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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1058146	chr20:24210196-24531087	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv833946	chr20:24320375-24490702	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr20:24436200-24440000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr20:24436200-24442000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:24436600-24440400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:24436800-24441800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr20:24436800-24442000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:24437800-24439800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:24438600-24439400	Enhancers	Brain Cingulate Gyrus	brain
8	chr20:24438600-24439400	Enhancers	Fetal Brain Female	brain
9	chr20:24438600-24439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:24438800-24439800	Enhancers	Brain Hippocampus Middle	brain
11	chr20:24439000-24439400	Enhancers	Fetal Heart	heart
12	chr20:24439000-24439800	Enhancers	Brain Substantia Nigra	brain
13	chr20:24439000-24439800	Enhancers	Fetal Brain Male	brain
14	chr20:24439200-24439400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:24439200-24439400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr20:24439200-24439400	Enhancers	Right Ventricle	heart
17	chr20:24439200-24439600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr20:24439200-24439800	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr20:24439200-24440200	Enhancers	Brain Germinal Matrix	brain

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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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