Variant report

Variant	rs35316503
Chromosome Location	chr1:221414490-221414491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489957	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11802047	1.00[EUR][1000 genomes]
rs12408324	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1592083	0.95[EUR][1000 genomes]
rs17009642	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17009643	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17009664	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35768495	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846695	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4846696	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4846697	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846699	0.95[EUR][1000 genomes]
rs4846700	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56704721	1.00[EUR][1000 genomes]
rs59293137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59638807	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6700159	0.95[EUR][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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221409600-221414600	Weak transcription	Fetal Lung	lung
2	chr1:221413800-221414600	Enhancers	Psoas Muscle	Psoas
3	chr1:221413800-221415200	Enhancers	Fetal Heart	heart
4	chr1:221414000-221414600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:221414200-221414600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:221414200-221414600	Enhancers	Right Ventricle	heart
7	chr1:221414200-221414600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr1:221414200-221415000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:221414200-221415600	Enhancers	Colon Smooth Muscle	Colon
10	chr1:221414200-221415600	Enhancers	Rectal Smooth Muscle	rectum
11	chr1:221414200-221416200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:221414400-221415600	Enhancers	Stomach Smooth Muscle	stomach

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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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