Variant report

Variant	rs10888944
Chromosome Location	chr1:56341409-56341410
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10493183	0.82[AFR][1000 genomes]
rs10789010	0.80[EUR][1000 genomes]
rs10888942	0.82[AFR][1000 genomes]
rs12070494	0.80[EUR][1000 genomes]
rs12138137	0.82[AFR][1000 genomes]
rs4130692	0.81[EUR][1000 genomes]
rs4313435	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs4433442	0.80[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4926699	0.91[AMR][1000 genomes]
rs4926700	0.87[AMR][1000 genomes]
rs59959484	0.82[EUR][1000 genomes]
rs6657176	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6693526	0.80[EUR][1000 genomes]
rs7516605	0.82[EUR][1000 genomes]
rs7517995	0.82[EUR][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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56326000-56342000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:56335200-56342000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr1:56336600-56342000	Weak transcription	Osteobl	bone
4	chr1:56339200-56342000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:56339200-56342000	Weak transcription	NHDF-Ad	bronchial
6	chr1:56339400-56342000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:56340400-56341600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:56340800-56341800	Weak transcription	Aorta	Aorta
9	chr1:56340800-56342000	Weak transcription	Right Atrium	heart
10	chr1:56340800-56342200	Enhancers	Psoas Muscle	Psoas

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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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