Variant report

Variant	rs13400399
Chromosome Location	chr2:64310339-64310340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10165165	0.94[ASN][1000 genomes]
rs10183513	0.94[ASN][1000 genomes]
rs10184867	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192104	0.94[ASN][1000 genomes]
rs10192378	0.94[ASN][1000 genomes]
rs10201191	0.82[ASN][1000 genomes]
rs10204631	0.94[ASN][1000 genomes]
rs13418461	0.94[ASN][1000 genomes]
rs17028375	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757314	0.94[ASN][1000 genomes]
rs28798530	0.94[ASN][1000 genomes]
rs57049619	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr2:64302000-64318200	Weak transcription	Fetal Intestine Large	intestine
2	chr2:64303400-64318400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:64303800-64318400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:64304200-64321600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:64305800-64318000	Weak transcription	Fetal Intestine Small	intestine
6	chr2:64307000-64318400	Weak transcription	Placenta	Placenta
7	chr2:64307600-64311800	Enhancers	K562	blood
8	chr2:64307600-64313000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:64307600-64318400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:64307800-64310400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:64309000-64313200	Weak transcription	Fetal Lung	lung
12	chr2:64309600-64317200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:64309600-64320800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:64310000-64312600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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