Variant report

Variant	rs4949706
Chromosome Location	chr1:76792348-76792349
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11162121	0.83[GIH][hapmap];0.85[EUR][1000 genomes]
rs12039112	0.92[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12060625	0.80[JPT][hapmap]
rs12075208	0.81[JPT][hapmap]
rs1325286	0.81[JPT][hapmap]
rs17627490	0.81[JPT][hapmap]
rs17672913	0.87[JPT][hapmap]
rs4421636	0.89[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4949629	0.81[JPT][hapmap]
rs9437421	0.92[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9437425	0.96[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	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
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:76774200-76796400	Weak transcription	Fetal Stomach	stomach
2	chr1:76775400-76796400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:76780200-76813800	Weak transcription	Primary B cells from cord blood	blood
4	chr1:76780600-76817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:76782200-76792800	Weak transcription	Fetal Kidney	kidney
6	chr1:76783600-76802600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:76792000-76794000	Weak transcription	Thymus	Thymus
8	chr1:76792200-76794000	Weak transcription	Fetal Thymus	thymus
9	chr1:76792200-76794400	Weak transcription	Primary T 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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