Variant report

Variant	rs57017343
Chromosome Location	chr2:10898838-10898839
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10929697	0.88[EUR][1000 genomes]
rs12467545	0.90[EUR][1000 genomes]
rs12473683	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12474854	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16856603	0.91[EUR][1000 genomes]
rs16856608	0.90[EUR][1000 genomes]
rs2171776	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28623106	0.91[EUR][1000 genomes]
rs2884288	0.89[EUR][1000 genomes]
rs4669624	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58364209	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59337562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59676698	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60925909	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61642673	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62128992	0.91[EUR][1000 genomes]
rs67490022	0.88[EUR][1000 genomes]
rs72777372	0.91[EUR][1000 genomes]
rs7573590	0.95[EUR][1000 genomes];0.82[ASN][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr2:10883000-10899400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:10892600-10899000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:10892600-10899200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:10892600-10905400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:10896000-10899400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:10896000-10899600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:10896000-10902800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:10897400-10902400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:10897600-10899800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:10897800-10906400	Enhancers	Placenta	Placenta
11	chr2:10898000-10899200	Bivalent Enhancer	HepG2	liver
12	chr2:10898000-10899400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:10898200-10899400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:10898400-10902800	Weak transcription	Fetal Heart	heart
15	chr2:10898800-10901000	Weak transcription	Esophagus	oesophagus

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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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