Variant report

Variant	rs12134312
Chromosome Location	chr1:225535523-225535524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10915804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12130456	1.00[AFR][1000 genomes]
rs12408617	0.80[EUR][1000 genomes]
rs16844692	0.80[EUR][1000 genomes]
rs3913656	0.80[EUR][1000 genomes]
rs72750850	0.80[EUR][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	nsv945672	chr1:225339532-225561349	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873226	chr1:225347689-225555602	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225534600-225535600	Enhancers	Dnd41	blood
2	chr1:225534800-225535600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:225534800-225535600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:225534800-225535600	Enhancers	HMEC	breast
5	chr1:225534800-225535600	Enhancers	NHEK	skin
6	chr1:225535000-225535600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:225535000-225535600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:225535400-225536600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:225535400-225536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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