Variant report

Variant	rs12743384
Chromosome Location	chr1:185513812-185513813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10752956	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911750	0.81[AMR][1000 genomes]
rs1119662	0.81[AMR][1000 genomes]
rs984700	0.81[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185494600-185515200	Weak transcription	Left Ventricle	heart
2	chr1:185507000-185518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:185511400-185514000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:185511600-185514000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:185511600-185516800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:185511800-185518200	Weak transcription	Placenta	Placenta
7	chr1:185512400-185520200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:185513800-185514200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:185513800-185515000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:185513800-185515400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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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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