Variant report

Variant	rs11206996
Chromosome Location	chr1:57665048-57665049
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10889032	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12030855	0.83[EUR][1000 genomes]
rs155294	0.97[ASN][1000 genomes]
rs155296	0.97[ASN][1000 genomes]
rs155297	0.97[ASN][1000 genomes]
rs197661	0.95[ASN][1000 genomes]
rs492445	0.90[ASN][1000 genomes]
rs495875	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs592604	0.97[ASN][1000 genomes]
rs592652	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs608346	0.97[ASN][1000 genomes]
rs608808	0.97[ASN][1000 genomes]
rs688379	0.97[ASN][1000 genomes]
rs688382	0.97[ASN][1000 genomes]
rs688437	0.97[ASN][1000 genomes]
rs932508	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs932509	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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	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
2	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57647000-57670600	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57657400-57670200	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57662800-57665200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:57663200-57665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:57663600-57669800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:57663800-57665200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:57663800-57665200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:57664000-57665600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:57664000-57665600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:57664000-57665600	Enhancers	Fetal Heart	heart
11	chr1:57664400-57665200	Enhancers	Fetal Lung	lung
12	chr1:57664600-57667600	Weak transcription	Fetal Brain Male	brain
13	chr1:57664600-57678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:57665000-57665400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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

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