Variant report

Variant	rs646828
Chromosome Location	chr18:8840528-8840529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs595612	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs599678	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs631841	0.82[EUR][1000 genomes]
rs650038	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670578	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs671680	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs689956	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs689975	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs690076	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs690311	0.82[EUR][1000 genomes]
rs690490	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs690517	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690570	0.95[CEU][hapmap];0.83[JPT][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8826400-8841600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr18:8832800-8841200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:8835800-8844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:8836000-8841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:8836200-8841600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:8837800-8842000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8839600-8841200	Weak transcription	Ovary	ovary
8	chr18:8839600-8844600	Weak transcription	Right Ventricle	heart
9	chr18:8839600-8844800	Weak transcription	Fetal Brain Male	brain
10	chr18:8839600-8845000	Weak transcription	Fetal Brain Female	brain
11	chr18:8839800-8841200	Weak transcription	HSMMtube	muscle
12	chr18:8839800-8841600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:8839800-8844200	Weak transcription	Left Ventricle	heart
14	chr18:8840200-8841000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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