Variant report

Variant	rs12604838
Chromosome Location	chr18:7669729-7669730
allele	A/G
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:14)

rs_ID	r²[population]
rs12607247	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1941146	0.88[EUR][1000 genomes]
rs2155748	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55990200	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56411522	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs576564	0.88[EUR][1000 genomes]
rs58075656	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59327125	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73939309	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73939311	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73939315	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73939317	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8082872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs948198	0.88[EUR][1000 genomes];0.98[ASN][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	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7657400-7680600	Weak transcription	Ovary	ovary
2	chr18:7664200-7676400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr18:7664800-7674800	Weak transcription	Fetal Heart	heart
4	chr18:7664800-7676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr18:7666800-7676200	Weak transcription	Colon Smooth Muscle	Colon
6	chr18:7667600-7669800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr18:7668200-7669800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr18:7668200-7669800	Enhancers	Left Ventricle	heart
9	chr18:7668200-7669800	Enhancers	Right Ventricle	heart
10	chr18:7668400-7669800	Enhancers	Right Atrium	heart
11	chr18:7668600-7681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7668800-7673600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr18:7668800-7680800	Weak transcription	Gastric	stomach
14	chr18:7669200-7669800	Enhancers	Fetal Kidney	kidney
15	chr18:7669200-7669800	Enhancers	Fetal Muscle Leg	muscle
16	chr18:7669400-7669800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:7669400-7673800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:7669400-7673800	Weak transcription	Lung	lung
19	chr18:7669600-7669800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr18:7669600-7673800	Weak transcription	Psoas Muscle	Psoas
21	chr18:7669600-7673800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr18:7669600-7674800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:7669600-7676200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:7669600-7688400	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links