Variant report

Variant	rs690076
Chromosome Location	chr18:8842029-8842030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10502384	0.82[AFR][1000 genomes]
rs595612	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs599678	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs631841	0.80[EUR][1000 genomes]
rs646828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs650038	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs670578	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs671680	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs689956	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs689975	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs690206	0.82[AFR][1000 genomes]
rs690311	0.81[EUR][1000 genomes]
rs690490	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs690517	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs690570	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.82[LWK][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8835800-8844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:8839600-8844600	Weak transcription	Right Ventricle	heart
3	chr18:8839600-8844800	Weak transcription	Fetal Brain Male	brain
4	chr18:8839600-8845000	Weak transcription	Fetal Brain Female	brain
5	chr18:8839800-8844200	Weak transcription	Left Ventricle	heart
6	chr18:8841200-8843400	Enhancers	HMEC	breast
7	chr18:8841200-8845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:8841600-8842600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr18:8841600-8842600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr18:8841600-8843200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:8841600-8844000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr18:8841800-8842400	Enhancers	HSMMtube	muscle
13	chr18:8841800-8845400	Enhancers	NHEK	skin
14	chr18:8841800-8847200	Weak transcription	Right Atrium	heart
15	chr18:8842000-8842400	Enhancers	NH-A	brain
16	chr18:8842000-8842400	Enhancers	Osteobl	bone
17	chr18:8842000-8843400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr18:8842000-8845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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

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