Variant report

Variant	rs2056448
Chromosome Location	chr12:48422231-48422232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:48422206-48422854	MCF-7	breast:	n/a	n/a
2	POLR2A	chr12:48422065-48422638	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48421385..48423662-chr12:48427630..48429692,2	K562	blood:
2	chr12:48359708..48361971-chr12:48421078..48422974,2	MCF-7	breast:
3	chr12:48415815..48418237-chr12:48421031..48422834,2	K562	blood:
4	chr12:48421744..48425259-chr12:48425932..48429243,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257955	TF binding region
ENSG00000134291	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10450783	0.88[EUR][1000 genomes]
rs10492082	0.94[ASN][1000 genomes]
rs10875726	0.89[ASN][1000 genomes]
rs10875727	0.89[ASN][1000 genomes]
rs10875733	0.90[ASN][1000 genomes]
rs11168350	0.84[ASN][1000 genomes]
rs11168353	0.85[ASN][1000 genomes]
rs11168354	0.85[ASN][1000 genomes]
rs11168358	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168361	0.95[ASN][1000 genomes]
rs11168363	0.96[ASN][1000 genomes]
rs11168364	0.96[ASN][1000 genomes]
rs11168373	0.90[ASN][1000 genomes]
rs11834818	0.81[ASN][1000 genomes]
rs12426981	0.81[ASN][1000 genomes]
rs17122567	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859440	0.90[ASN][1000 genomes]
rs1859442	0.84[ASN][1000 genomes]
rs2240306	0.91[ASN][1000 genomes]
rs2408954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742075	0.81[ASN][1000 genomes]
rs58086963	0.84[ASN][1000 genomes]
rs59667534	0.94[ASN][1000 genomes]
rs7134203	0.92[EUR][1000 genomes]
rs7134878	0.92[EUR][1000 genomes]
rs7299704	0.84[ASN][1000 genomes]
rs733592	0.90[ASN][1000 genomes]
rs765260	0.89[ASN][1000 genomes]
rs9651981	0.83[ASN][1000 genomes]
rs9804751	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48416800-48423400	Weak transcription	Right Atrium	heart
2	chr12:48417800-48423400	Weak transcription	Fetal Lung	lung
3	chr12:48418200-48424200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48418400-48425800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:48418600-48425200	Enhancers	Fetal Intestine Large	intestine
6	chr12:48419200-48422400	Weak transcription	K562	blood
7	chr12:48420000-48422400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:48420000-48424200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:48420200-48422800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:48420200-48423800	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:48420200-48424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:48420400-48424000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48420400-48424000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:48420400-48424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:48420400-48429000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:48420600-48424200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:48420800-48424600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:48421000-48422400	Weak transcription	Fetal Kidney	kidney
19	chr12:48421400-48422800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:48421400-48425000	Enhancers	Fetal Intestine Small	intestine
21	chr12:48421600-48423800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr12:48421600-48425000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:48421800-48422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:48421800-48423400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:48421800-48423800	Enhancers	HepG2	liver
26	chr12:48421800-48424000	Weak transcription	HMEC	breast
27	chr12:48422000-48424400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:48422000-48429000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:48422200-48422400	Weak transcription	Right Ventricle	heart
30	chr12:48422200-48423200	Enhancers	Primary B cells from peripheral blood	blood
31	chr12:48422200-48424000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
32	chr12:48422200-48424400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:48422200-48424800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:48422200-48425000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links