Variant report

Variant	rs12318944
Chromosome Location	chr12:46925498-46925499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46765368..46767336-chr12:46923589..46925660,2	K562	blood:
2	chr12:46923109..46925590-chr12:46988951..46990498,2	MCF-7	breast:
3	chr12:46916796..46918875-chr12:46924233..46926266,3	K562	blood:

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11183519	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12301825	0.95[AMR][1000 genomes]
rs12311952	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12579010	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12579984	0.82[AMR][1000 genomes]
rs12580176	0.80[AMR][1000 genomes]
rs12581743	0.82[AMR][1000 genomes]
rs17097079	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17097091	0.82[AMR][1000 genomes]
rs1946174	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1986154	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2160892	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2408616	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4351902	0.80[ASN][1000 genomes]
rs4768124	0.96[AMR][1000 genomes]
rs4768126	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4768738	0.84[ASN][1000 genomes]
rs4768740	0.82[AMR][1000 genomes]
rs57616927	0.82[AMR][1000 genomes]
rs58806862	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs59408501	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7132144	0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7133051	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7136117	0.84[AMR][1000 genomes]
rs7297406	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7310614	0.84[AMR][1000 genomes]
rs7311414	0.84[AMR][1000 genomes]
rs7315740	0.84[AMR][1000 genomes]
rs73282105	0.84[AMR][1000 genomes]
rs73282110	0.84[AMR][1000 genomes]
rs7487359	0.96[AMR][1000 genomes]
rs7487705	0.91[AMR][1000 genomes]
rs7959179	0.80[ASN][1000 genomes]
rs7976531	0.84[ASN][1000 genomes]
rs7976785	0.98[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46919200-46929800	Weak transcription	A549	lung
2	chr12:46919400-46929400	Weak transcription	Right Atrium	heart
3	chr12:46919800-46927600	Weak transcription	Fetal Heart	heart
4	chr12:46920000-46929600	Weak transcription	Left Ventricle	heart
5	chr12:46924000-46926000	ZNF genes & repeats	Fetal Stomach	stomach
6	chr12:46924000-46926400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:46924200-46926000	Enhancers	HepG2	liver
8	chr12:46924400-46925800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:46924400-46926000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:46924600-46925600	ZNF genes & repeats	Thymus	Thymus
11	chr12:46924600-46925800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:46924600-46925800	ZNF genes & repeats	Dnd41	blood
13	chr12:46925000-46925600	ZNF genes & repeats	NHEK	skin
14	chr12:46925000-46926400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:46925200-46940600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:46925400-46925600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr12:46925400-46925800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:46925400-46930600	Weak transcription	Right Ventricle	heart
19	chr12:46925400-46939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:46925400-46940200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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