Variant report

Variant	rs57040275
Chromosome Location	chr22:33442009-33442010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1018799	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12483802	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16991715	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16991717	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2027845	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2027846	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103417	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57040453	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57574537	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57863436	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5998709	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998711	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7291280	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73881944	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73881949	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[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	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33432400-33449800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:33438000-33445000	Weak transcription	Brain Anterior Caudate	brain
3	chr22:33438600-33443800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr22:33438800-33445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33440400-33442400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr22:33440600-33445600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:33440600-33446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:33440600-33446600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:33441200-33442200	Enhancers	HepG2	liver
10	chr22:33441400-33444200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:33441800-33442200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr22:33441800-33445000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:33442000-33443200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:33442000-33444800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr22:33442000-33444800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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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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