Variant report

Variant	rs1147994
Chromosome Location	chr12:75959966-75959967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75958595..75960216-chr12:76423583..76426399,2	MCF-7	breast:
2	chr12:75955365..75957575-chr12:75958658..75961087,2	K562	blood:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10785197	0.94[ASN][1000 genomes]
rs11180559	0.90[ASN][1000 genomes]
rs11180576	0.99[ASN][1000 genomes]
rs11180577	0.97[ASN][1000 genomes]
rs11180591	0.94[ASN][1000 genomes]
rs12299578	0.99[ASN][1000 genomes]
rs1351328	0.96[ASN][1000 genomes]
rs1383098	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383101	0.88[ASN][1000 genomes]
rs1480001	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480002	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542570	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1552040	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1611928	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1627431	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630753	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1679380	0.95[ASN][1000 genomes]
rs1697753	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795374	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1795380	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795382	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2620687	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652022	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3847669	0.83[CEU][hapmap]
rs3912214	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882638	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs56904707	0.90[ASN][1000 genomes]
rs57091991	0.97[ASN][1000 genomes]
rs7297463	0.98[ASN][1000 genomes]
rs73185062	0.99[ASN][1000 genomes]
rs7960251	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75954600-75964800	Weak transcription	Brain Substantia Nigra	brain
2	chr12:75956400-75961400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:75957200-75960200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:75958600-75962000	Weak transcription	Osteobl	bone
5	chr12:75958800-75965000	Weak transcription	Fetal Brain Female	brain
6	chr12:75959000-75960000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:75959000-75961600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:75959000-75961600	Weak transcription	Fetal Stomach	stomach
9	chr12:75959000-75961800	Weak transcription	NHLF	lung
10	chr12:75959600-75963200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:75959800-75960000	Enhancers	Esophagus	oesophagus
12	chr12:75959800-75960200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links