Variant report

Variant	rs4469733
Chromosome Location	chr1:57050680-57050681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1041604	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10789030	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10888982	0.82[AMR][1000 genomes]
rs12126955	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1777275	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2065553	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2065555	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2404719	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2404983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv528673	chr1:57048961-57059571	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv945966	chr1:57050677-57051793	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57045400-57050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57045400-57051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57046000-57050800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57046200-57051400	Weak transcription	Osteobl	bone
5	chr1:57048000-57050800	Weak transcription	Liver	Liver
6	chr1:57048000-57056000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:57050200-57050800	Enhancers	Fetal Lung	lung
8	chr1:57050200-57052000	Enhancers	NHDF-Ad	bronchial
9	chr1:57050200-57052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:57050400-57050800	Weak transcription	HepG2	liver
11	chr1:57050400-57051000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:57050400-57051000	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:57050400-57051000	Enhancers	HSMM	muscle
14	chr1:57050400-57052000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:57050600-57051000	Weak transcription	A549	lung
16	chr1:57050600-57051600	Weak transcription	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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