Variant report

Variant	rs11051414
Chromosome Location	chr12:31524913-31524914
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	chr12:31477279..31478888-chr12:31523877..31525734,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10771826	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771830	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10771831	0.87[AMR][1000 genomes]
rs10771833	0.86[AMR][1000 genomes]
rs10771835	0.83[AMR][1000 genomes]
rs10843937	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10843938	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10843939	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11051417	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11051427	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11051428	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1560634	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2163730	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2892638	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34498192	0.85[AMR][1000 genomes]
rs3741877	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4931499	0.84[AMR][1000 genomes]
rs61918606	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61930275	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6487990	0.82[EUR][1000 genomes]
rs7297997	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7299425	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7300106	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7301326	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73080572	0.84[AMR][1000 genomes]
rs7308202	0.83[AMR][1000 genomes]
rs7313889	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7314404	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7314739	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7978277	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31523400-31537600	Weak transcription	Fetal Brain Female	brain
2	chr12:31523800-31538200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:31524400-31527800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31524400-31536600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:31524400-31538200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:31524400-31540200	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:31524600-31526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:31524600-31528200	Weak transcription	K562	blood
9	chr12:31524600-31535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:31524600-31535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:31524800-31526400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:31524800-31526600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:31524800-31530800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:31524800-31537200	Weak transcription	Fetal Intestine Large	intestine
15	chr12:31524800-31538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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