Variant report

Variant	rs1612431
Chromosome Location	chr1:223327497-223327498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1613248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640805	1.00[AFR][1000 genomes]
rs1640806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1640862	1.00[AMR][1000 genomes]
rs1773735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5744096	1.00[AMR][1000 genomes]
rs5744098	1.00[AMR][1000 genomes]
rs725083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851159	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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223325000-223327600	Enhancers	K562	blood
2	chr1:223325600-223329000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:223326200-223327600	Enhancers	Adipose Nuclei	Adipose
4	chr1:223326400-223327600	Enhancers	Right Atrium	heart
5	chr1:223326400-223327600	Enhancers	HUVEC	blood vessel
6	chr1:223326600-223327600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:223326600-223327800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:223326800-223327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:223326800-223327600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:223326800-223327800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:223326800-223327800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:223326800-223329200	Enhancers	Placenta	Placenta
13	chr1:223327000-223327600	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr1:223327200-223327600	Enhancers	Right Ventricle	heart
15	chr1:223327200-223334600	Weak transcription	Fetal Thymus	thymus
16	chr1:223327400-223327600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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