Variant report

Variant	rs12071326
Chromosome Location	chr1:57695946-57695947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12071373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1504584	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1504587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1604885	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17115428	1.00[AMR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57692400-57696000	Enhancers	K562	blood
2	chr1:57694000-57699800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57695600-57696000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57695800-57696000	Enhancers	HepG2	liver
5	chr1:57695800-57696200	Active TSS	Liver	Liver
6	chr1:57695800-57696800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:57695800-57697600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:57695800-57698400	Weak transcription	Fetal Intestine Large	intestine

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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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