Variant report

Variant	rs56347904
Chromosome Location	chr12:123612452-123612453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123592814..123595580-chr12:123611489..123613555,2	K562	blood:
2	chr12:123544642..123548641-chr12:123611003..123613032,3	K562	blood:
3	chr12:123610238..123613639-chr12:123613854..123616666,3	K562	blood:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11057167	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057171	1.00[AMR][1000 genomes]
rs11057173	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057182	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11057186	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.90[EUR][1000 genomes]
rs11060765	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11060942	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061244	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061275	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061613	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061615	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12368208	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12371718	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12372667	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2343106	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2844287	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36004829	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs484200	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs523682	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61751326	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73230014	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73230019	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7488814	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs947800	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs947801	1.00[AMR][1000 genomes];0.95[EUR][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	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv3405030	chr12:123610199-123614397	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123594600-123634000	Weak transcription	Brain Germinal Matrix	brain
2	chr12:123599200-123624600	Weak transcription	Fetal Brain Female	brain
3	chr12:123601600-123615800	Weak transcription	Pancreas	Pancrea
4	chr12:123605000-123616000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:123605800-123614200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:123605800-123624400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:123606000-123614600	Weak transcription	Colonic Mucosa	Colon
8	chr12:123607600-123619600	Genic enhancers	Fetal Thymus	thymus
9	chr12:123608000-123614200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:123608400-123614200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:123610000-123620400	Enhancers	Placenta	Placenta
12	chr12:123610400-123613000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:123610600-123612600	Enhancers	Adipose Nuclei	Adipose
14	chr12:123610600-123612600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:123610600-123612600	Enhancers	NHEK	skin
16	chr12:123610600-123612600	Enhancers	NHLF	lung
17	chr12:123610600-123612800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:123610600-123612800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:123610600-123612800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:123610600-123612800	Enhancers	HMEC	breast
21	chr12:123610600-123613000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:123610600-123614400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:123610800-123612600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:123610800-123612800	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:123610800-123612800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:123610800-123612800	Enhancers	Colon Smooth Muscle	Colon
27	chr12:123610800-123612800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr12:123610800-123612800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr12:123610800-123613000	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:123610800-123613200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:123611000-123617400	Enhancers	Primary B cells from cord blood	blood
32	chr12:123611200-123614600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:123611400-123616200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:123611400-123624400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:123611600-123612800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:123611600-123612800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:123611600-123614000	Weak transcription	Primary T cells from cord blood	blood
38	chr12:123611600-123614200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr12:123611600-123615800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:123611600-123616200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:123611600-123616600	Weak transcription	Liver	Liver
42	chr12:123611600-123617400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr12:123611800-123612800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr12:123611800-123612800	Enhancers	HSMM	muscle
45	chr12:123611800-123612800	Enhancers	NHDF-Ad	bronchial
46	chr12:123611800-123612800	Enhancers	Osteobl	bone
47	chr12:123611800-123613200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:123611800-123615200	Weak transcription	Fetal Heart	heart
49	chr12:123611800-123615400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr12:123611800-123615600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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