Variant report

Variant	rs835446
Chromosome Location	chr1:57494192-57494193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11811443	0.93[EUR][1000 genomes]
rs1342432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17114796	0.96[EUR][1000 genomes]
rs17416642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416655	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17417626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17449278	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17450593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17450764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17451933	1.00[EUR][1000 genomes]
rs41286862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57172704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57655464	1.00[EUR][1000 genomes]
rs59236630	0.96[EUR][1000 genomes]
rs6698886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6701615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74077326	1.00[EUR][1000 genomes]
rs7514916	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs835902	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9651187	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
2	chr1:57485400-57498000	Weak transcription	Liver	Liver
3	chr1:57486000-57502600	Weak transcription	Fetal Brain Male	brain
4	chr1:57487800-57498800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:57491400-57494400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:57491400-57494600	Weak transcription	Fetal Intestine Small	intestine
7	chr1:57491400-57494800	Weak transcription	Brain Germinal Matrix	brain
8	chr1:57491400-57495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:57493000-57494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:57493000-57497000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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

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