Variant report

Variant	rs7137305
Chromosome Location	chr12:104656930-104656931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:104656930-104658314	SK-N-SH	brain:	n/a	n/a
2	FOS	chr12:104656907-104656962	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:104656847-104657121	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104654376..104656180-chr12:104656602..104658713,2	K562	blood:

Variant related genes	Relation type
RPL18AP3	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10745997	0.85[ASN][1000 genomes]
rs10745998	0.81[ASN][1000 genomes]
rs10778311	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10778315	0.89[ASN][1000 genomes]
rs10778316	0.82[ASN][1000 genomes]
rs10778317	0.82[ASN][1000 genomes]
rs10778318	0.82[ASN][1000 genomes]
rs10861180	0.82[ASN][1000 genomes]
rs10861202	0.82[EUR][1000 genomes]
rs11111959	0.95[ASN][1000 genomes]
rs11111960	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111962	0.90[ASN][1000 genomes]
rs11111963	0.90[ASN][1000 genomes]
rs28626346	0.85[ASN][1000 genomes]
rs4246267	0.82[ASN][1000 genomes]
rs4254139	0.82[ASN][1000 genomes]
rs4329742	0.86[ASN][1000 genomes]
rs4569072	0.88[ASN][1000 genomes]
rs4964735	0.86[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7138523	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7295751	0.82[ASN][1000 genomes]
rs7342395	0.82[ASN][1000 genomes]
rs9668964	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr12:104649800-104657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:104652000-104669600	Weak transcription	Hela-S3	cervix
3	chr12:104652800-104657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:104652800-104673000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:104656000-104657200	Enhancers	NHEK	skin
6	chr12:104656200-104657400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:104656200-104658200	Enhancers	A549	lung
8	chr12:104656200-104658400	Enhancers	HMEC	breast
9	chr12:104656400-104658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:104656400-104658200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:104656600-104658200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:104656800-104657600	Enhancers	Fetal Thymus	thymus
13	chr12:104656800-104658000	Enhancers	Stomach Mucosa	stomach
14	chr12:104656800-104658200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:104656800-104658200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:104656800-104658200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:104656800-104658200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:104656800-104658600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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