Variant report

Variant	rs8030125
Chromosome Location	chr15:44273956-44273957
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12900880	0.85[ASN][1000 genomes]
rs1426658	0.85[ASN][1000 genomes]
rs16952932	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16958670	0.92[AMR][1000 genomes]
rs16958691	0.92[AMR][1000 genomes]
rs28375626	0.85[AMR][1000 genomes]
rs28479591	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28623028	0.85[AMR][1000 genomes]
rs28656778	0.92[AMR][1000 genomes]
rs28832708	0.92[AMR][1000 genomes]
rs57575746	0.92[AMR][1000 genomes]
rs58008065	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58278421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58541819	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs60536495	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61271143	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6493094	0.85[ASN][1000 genomes]
rs7162529	1.00[AMR][1000 genomes]
rs7168522	0.85[AMR][1000 genomes]
rs7179696	1.00[AMR][1000 genomes]
rs8029187	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8029425	1.00[AMR][1000 genomes]
rs8041328	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr15:44257400-44281000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:44259200-44285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:44263000-44295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:44267400-44276600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:44267400-44290600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:44268800-44290400	Weak transcription	Fetal Heart	heart
7	chr15:44269400-44278000	Weak transcription	Brain Anterior Caudate	brain
8	chr15:44269600-44278000	Weak transcription	Brain Substantia Nigra	brain
9	chr15:44269600-44283600	Weak transcription	Brain Angular Gyrus	brain
10	chr15:44269800-44276200	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:44269800-44291800	Weak transcription	NH-A	brain
12	chr15:44269800-44292200	Weak transcription	HMEC	breast
13	chr15:44270800-44278000	Weak transcription	GM12878-XiMat	blood
14	chr15:44273800-44274600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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