Variant report

Variant	rs2789731
Chromosome Location	chr1:216923473-216923474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12144183	0.95[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1572740	0.87[AMR][1000 genomes]
rs2813700	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2813706	0.88[AMR][1000 genomes]
rs2813707	0.86[AMR][1000 genomes]
rs2820877	0.82[YRI][hapmap];0.91[AMR][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	nsv508694	chr1:216901014-216923883	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216897400-216958600	Weak transcription	Pancreas	Pancrea
2	chr1:216911600-216934200	Weak transcription	Psoas Muscle	Psoas
3	chr1:216921600-216925000	Enhancers	Fetal Heart	heart
4	chr1:216922400-216925400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:216922400-216931400	Weak transcription	Right Atrium	heart
6	chr1:216922600-216923800	Enhancers	Brain Anterior Caudate	brain
7	chr1:216922600-216925400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:216922800-216924600	Enhancers	Brain Substantia Nigra	brain
9	chr1:216923000-216923600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:216923200-216923600	Enhancers	Fetal Brain Male	brain
11	chr1:216923200-216923800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:216923400-216923800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:216923400-216923800	Enhancers	Brain Inferior Temporal Lobe	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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