Variant report

Variant	rs12073348
Chromosome Location	chr1:180548802-180548803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180547494..180549201-chr1:180553238..180555932,2	MCF-7	breast:
2	chr1:180548462..180550838-chr1:180552772..180555647,2	K562	blood:
3	chr1:180494034..180495925-chr1:180548786..180551301,2	MCF-7	breast:
4	chr1:180544457..180546986-chr1:180548754..180551276,2	MCF-7	breast:
5	chr1:180542566..180545271-chr1:180548780..180551129,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494531	0.83[ASN][1000 genomes]
rs12028578	0.87[EUR][1000 genomes]
rs12077656	1.00[CHB][hapmap]
rs12562357	0.85[EUR][1000 genomes]
rs12723609	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs12735662	0.83[ASN][1000 genomes]
rs12754682	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16856420	1.00[CHB][hapmap]
rs17301118	0.83[ASN][1000 genomes]
rs17301132	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs17373022	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17373133	0.83[ASN][1000 genomes]
rs3845400	0.83[ASN][1000 genomes]
rs3845401	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs6663339	1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67466592	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72720941	0.83[ASN][1000 genomes]
rs72720943	0.83[ASN][1000 genomes]
rs72720953	0.83[ASN][1000 genomes]
rs72720958	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:180541600-180549600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:180544000-180549000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:180544000-180549000	Weak transcription	Stomach Mucosa	stomach
4	chr1:180545200-180549000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:180545200-180549400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:180545200-180549400	Weak transcription	K562	blood
7	chr1:180545200-180549400	Weak transcription	NHEK	skin
8	chr1:180545800-180549200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:180546600-180550400	Weak transcription	NH-A	brain
10	chr1:180546800-180549000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:180546800-180549200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:180547200-180549000	Weak transcription	Osteobl	bone
13	chr1:180547800-180549000	Weak transcription	Pancreas	Pancrea
14	chr1:180548600-180550000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:180548600-180550400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:180548600-180550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:180548600-180551000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:180548800-180549200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr1:180548800-180551000	Enhancers	HMEC	breast
20	chr1:180548800-180551400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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