Variant report

Variant	rs12318545
Chromosome Location	chr12:49530330-49530331
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49523677..49527856-chr12:49529578..49534524,9	MCF-7	breast:
2	chr12:49529524..49531633-chr12:49594267..49596697,2	K562	blood:
3	chr12:49530122..49533493-chr12:49657704..49660663,3	K562	blood:

Variant related genes	Relation type
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000200309	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10083069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10160974	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11168879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299500	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12303622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305752	1.00[AMR][1000 genomes]
rs12308393	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12315499	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12317546	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12321116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3842281	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61730859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7342336	1.00[AMR][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	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49526200-49531200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:49527000-49530600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:49527000-49532000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:49527000-49532400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:49527000-49533000	Weak transcription	Fetal Stomach	stomach
6	chr12:49527000-49534400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:49527000-49555200	Weak transcription	Thymus	Thymus
8	chr12:49527200-49531400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:49527200-49531800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:49527200-49533000	Weak transcription	Fetal Brain Female	brain
11	chr12:49527600-49531200	Weak transcription	Fetal Lung	lung
12	chr12:49527600-49531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:49527600-49532000	Weak transcription	K562	blood
14	chr12:49527600-49532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:49527600-49532600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:49527600-49542400	Weak transcription	A549	lung
17	chr12:49527800-49531400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:49527800-49531400	Weak transcription	Placenta	Placenta
19	chr12:49527800-49532400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:49527800-49534600	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:49527800-49537200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:49527800-49542400	Weak transcription	Fetal Brain Male	brain
23	chr12:49527800-49542800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:49527800-49543000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr12:49528000-49531800	Weak transcription	Hela-S3	cervix
26	chr12:49528000-49532000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:49528000-49532200	Weak transcription	Dnd41	blood
28	chr12:49528000-49532400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:49528000-49544000	Weak transcription	GM12878-XiMat	blood

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