Variant report

Variant	rs12184783
Chromosome Location	chr13:49986128-49986129
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:6)

rs_ID	r²[population]
rs11148144	1.00[ASN][1000 genomes]
rs12429253	0.80[EUR][1000 genomes]
rs74073711	0.80[EUR][1000 genomes]
rs9526558	0.80[EUR][1000 genomes]
rs9535232	0.80[EUR][1000 genomes]
rs9535233	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49975600-49993600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:49975600-50001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:49975800-49987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:49975800-49991000	Weak transcription	Right Ventricle	heart
5	chr13:49975800-50001600	Weak transcription	Fetal Stomach	stomach
6	chr13:49975800-50013600	Weak transcription	Primary B cells from cord blood	blood
7	chr13:49976000-49992800	Weak transcription	Ovary	ovary
8	chr13:49978400-50005400	Weak transcription	Aorta	Aorta
9	chr13:49978400-50016800	Weak transcription	Fetal Brain Male	brain
10	chr13:49979800-49997200	Weak transcription	Left Ventricle	heart
11	chr13:49980400-50006400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:49981600-49993200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:49983400-50017000	Weak transcription	Brain Anterior Caudate	brain
14	chr13:49983400-50017400	Weak transcription	Lung	lung
15	chr13:49983600-50017000	Weak transcription	Brain Angular Gyrus	brain
16	chr13:49984400-50001200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:49984400-50010200	Weak transcription	Brain Substantia Nigra	brain
18	chr13:49985000-49988000	Weak transcription	Colon Smooth Muscle	Colon
19	chr13:49985000-50001200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:49985200-49987600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:49985200-49987800	Weak transcription	Spleen	Spleen

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