Variant report

Variant	rs12079106
Chromosome Location	chr1:76780526-76780527
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:4)

rs_ID	r²[population]
rs11807801	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6658210	1.00[ASN][1000 genomes]
rs6681765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685923	1.00[CHB][hapmap];0.94[JPT][hapmap];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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:76755800-76783000	Weak transcription	Fetal Lung	lung
2	chr1:76774200-76796400	Weak transcription	Fetal Stomach	stomach
3	chr1:76775400-76796400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:76778000-76782000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:76778400-76783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:76779000-76780600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:76779200-76780600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:76779400-76780600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:76779600-76780600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:76779800-76780600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:76779800-76782800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76779800-76784000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:76780200-76780600	Flanking Active TSS	Fetal Heart	heart
14	chr1:76780200-76784000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:76780200-76813800	Weak transcription	Primary B cells from cord blood	blood

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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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