Variant report

Variant	rs2970814
Chromosome Location	chr12:4592448-4592449
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	chr12:4591527..4593614-chr12:4593865..4595936,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11063175	1.00[AMR][1000 genomes]
rs11063176	1.00[AMR][1000 genomes]
rs12320287	1.00[AMR][1000 genomes]
rs2907497	1.00[AMR][1000 genomes]
rs2909382	1.00[AMR][1000 genomes]
rs2970811	1.00[AMR][1000 genomes]
rs2970813	1.00[AMR][1000 genomes]
rs2970816	1.00[AMR][1000 genomes]
rs2970817	1.00[AMR][1000 genomes]
rs2970825	1.00[AMR][1000 genomes]
rs59766426	0.95[AFR][1000 genomes]
rs6489554	1.00[AMR][1000 genomes]
rs7136895	1.00[AMR][1000 genomes]
rs7960636	0.95[AFR][1000 genomes]
rs7972349	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530520	chr12:3726841-4601757	Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4586800-4596400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:4587200-4597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:4587200-4597200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:4590000-4596200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:4590200-4597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr12:4590800-4631200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:4591800-4594800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:4591800-4596200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:4592000-4594800	Enhancers	HMEC	breast
10	chr12:4592000-4595000	Enhancers	NHEK	skin
11	chr12:4592200-4592600	Enhancers	HepG2	liver
12	chr12:4592200-4594800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:4592200-4594800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:4592200-4594800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:4592400-4592600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:4592400-4592600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:4592400-4592600	Enhancers	Left Ventricle	heart
18	chr12:4592400-4592600	Enhancers	Psoas Muscle	Psoas
19	chr12:4592400-4593600	Enhancers	Fetal Thymus	thymus
20	chr12:4592400-4596400	Weak transcription	Spleen	Spleen
21	chr12:4592400-4647200	Weak transcription	Esophagus	oesophagus

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