Variant report

Variant	rs11043217
Chromosome Location	chr12:122295078-122295079
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	chr12:122240928..122242947-chr12:122294701..122297543,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10840622	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840624	0.91[EUR][1000 genomes]
rs11043213	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043216	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043218	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043219	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11043220	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043221	0.89[AMR][1000 genomes]
rs11043223	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043225	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12825161	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2167067	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34395322	1.00[ASN][1000 genomes]
rs35599566	0.90[EUR][1000 genomes]
rs35633723	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35892692	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6486780	0.86[EUR][1000 genomes]
rs66611928	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68055743	0.93[EUR][1000 genomes]
rs7969671	0.81[AMR][1000 genomes];0.92[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11043217	HPD	cis	Muscle Skeletal	GTEx
rs11043217	RP11-7M8.2	cis	Muscle Skeletal	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122278200-122296400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:122278400-122295400	Weak transcription	Fetal Intestine Small	intestine
3	chr12:122291200-122295400	Weak transcription	Pancreas	Pancrea
4	chr12:122292000-122296400	Weak transcription	Right Atrium	heart
5	chr12:122292200-122296400	Weak transcription	Colonic Mucosa	Colon
6	chr12:122292600-122296000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:122292600-122296000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr12:122292800-122295400	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:122292800-122296400	Weak transcription	Right Ventricle	heart
10	chr12:122292800-122296800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122294000-122295600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122294000-122296000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:122294000-122298600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:122294200-122297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:122294200-122297800	Weak transcription	Primary B cells from cord blood	blood
16	chr12:122294200-122299000	Enhancers	A549	lung
17	chr12:122294400-122295600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:122294400-122296400	Weak transcription	Spleen	Spleen
19	chr12:122294600-122297800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:122294800-122298800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:122295000-122295400	Enhancers	HepG2	liver
22	chr12:122295000-122296000	Flanking Active TSS	Liver	Liver

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