Variant report

Variant	rs7629999
Chromosome Location	chr3:46043308-46043309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12054287	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2133662	0.83[EUR][1000 genomes]
rs3796376	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3821883	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4234452	0.80[ASN][1000 genomes]
rs4447807	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56800498	0.80[EUR][1000 genomes]
rs59767267	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60539039	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62242788	0.86[AMR][1000 genomes]
rs62242832	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62242846	0.80[EUR][1000 genomes]
rs62243875	0.83[EUR][1000 genomes]
rs62243876	0.83[EUR][1000 genomes]
rs62245106	0.86[AMR][1000 genomes]
rs6763341	0.83[EUR][1000 genomes]
rs6781668	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6807854	0.81[EUR][1000 genomes]
rs7643426	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr3:46037600-46053000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:46037600-46064600	Weak transcription	Gastric	stomach
3	chr3:46038200-46047400	Weak transcription	Psoas Muscle	Psoas
4	chr3:46041800-46043400	Enhancers	Brain Hippocampus Middle	brain
5	chr3:46041800-46043400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:46041800-46043400	Enhancers	Brain Substantia Nigra	brain
7	chr3:46042200-46043400	Enhancers	Brain Angular Gyrus	brain
8	chr3:46043000-46043400	Enhancers	Brain Cingulate Gyrus	brain
9	chr3:46043200-46047600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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