Variant report

Variant	rs626289
Chromosome Location	chr1:70600716-70600717
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs628249	0.84[AMR][1000 genomes]
rs641909	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs651298	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs654025	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656448	0.86[AMR][1000 genomes]
rs6688085	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7547666	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826900	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005397	chr1:70598803-70634585	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70596800-70609200	Weak transcription	Liver	Liver
2	chr1:70598400-70601200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:70598800-70601200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:70599000-70606000	Weak transcription	Osteobl	bone
5	chr1:70599000-70606600	Weak transcription	K562	blood
6	chr1:70599000-70609600	Weak transcription	GM12878-XiMat	blood
7	chr1:70599400-70601200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:70599600-70601000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:70599800-70601200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:70600200-70601400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:70600200-70602800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:70600200-70605600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:70600200-70606000	Weak transcription	Aorta	Aorta
14	chr1:70600400-70602600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:70600400-70604600	Weak transcription	Fetal Brain Female	brain
16	chr1:70600400-70605200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:70600400-70605600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:70600400-70605800	Weak transcription	NHDF-Ad	bronchial
19	chr1:70600600-70601000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:70600600-70601800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:70600600-70602800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:70600600-70605200	Weak transcription	Brain Germinal Matrix	brain
23	chr1:70600600-70605200	Weak transcription	Fetal Heart	heart

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