Variant report

Variant	rs56904707
Chromosome Location	chr12:75921909-75921910
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75919171..75922679-chr12:76098756..76100488,3	MCF-7	breast:
2	chr12:75918349..75922851-chr12:76423877..76426904,6	MCF-7	breast:
3	chr12:75921052..75923750-chr12:76434920..76437583,2	MCF-7	breast:
4	chr12:75918799..75923199-chr12:76423182..76427634,7	MCF-7	breast:
5	chr12:75919717..75922207-chr12:76426912..76429437,2	K562	blood:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10785197	0.86[ASN][1000 genomes]
rs11180559	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180576	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11180577	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11180591	0.86[ASN][1000 genomes]
rs1147994	0.90[ASN][1000 genomes]
rs12299578	0.91[ASN][1000 genomes]
rs1351328	0.89[ASN][1000 genomes]
rs1383098	0.90[ASN][1000 genomes]
rs1383101	0.81[ASN][1000 genomes]
rs1480001	0.90[ASN][1000 genomes]
rs1480002	0.90[ASN][1000 genomes]
rs1552040	0.99[ASN][1000 genomes]
rs1611928	0.88[ASN][1000 genomes]
rs1627431	0.90[ASN][1000 genomes]
rs1630753	0.89[ASN][1000 genomes]
rs1679380	0.87[ASN][1000 genomes]
rs1697753	0.90[ASN][1000 genomes]
rs1795374	0.89[ASN][1000 genomes]
rs1795380	0.90[ASN][1000 genomes]
rs1795382	0.90[ASN][1000 genomes]
rs2620687	0.90[ASN][1000 genomes]
rs2652022	0.90[ASN][1000 genomes]
rs3912214	0.93[ASN][1000 genomes]
rs57091991	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7297463	0.90[ASN][1000 genomes]
rs73185062	0.91[ASN][1000 genomes]
rs7960251	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription 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	27 gene(s)	inside rSNPs	diseases
7	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr12:75919400-75922800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:75920400-75922800	Enhancers	A549	lung
3	chr12:75920600-75924000	Enhancers	Fetal Lung	lung
4	chr12:75920800-75922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:75920800-75922000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:75920800-75922000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:75920800-75922200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:75920800-75922400	Weak transcription	Fetal Heart	heart
9	chr12:75921000-75922200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:75921000-75922600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:75921200-75922200	Weak transcription	NH-A	brain
12	chr12:75921400-75922600	Enhancers	Fetal Brain Male	brain
13	chr12:75921600-75922600	Enhancers	Fetal Brain Female	brain
14	chr12:75921600-75922600	Enhancers	NHDF-Ad	bronchial
15	chr12:75921800-75922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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