Variant report

Variant	rs56152568
Chromosome Location	chr12:120545716-120545717
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120541333..120544024-chr12:120545087..120548824,4	K562	blood:
2	chr12:120537177..120551260-chr12:120551865..120557471,32	MCF-7	breast:
3	chr12:120544123..120545824-chr12:120573588..120575675,2	MCF-7	breast:
4	chr12:120542957..120544587-chr12:120544592..120546280,3	MCF-7	breast:
5	chr12:120544989..120547921-chr12:120551976..120557751,6	K562	blood:

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000089154	Chromatin interaction

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

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

rs_ID	r²[population]
rs1054631	0.94[ASN][1000 genomes]
rs16949854	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16949862	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16949870	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16949914	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286041	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28613380	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56105460	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56939014	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs57155388	0.94[ASN][1000 genomes]
rs57339959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57458743	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59868595	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59911114	0.86[EUR][1000 genomes]
rs60106911	0.94[ASN][1000 genomes]
rs60223336	0.94[ASN][1000 genomes]
rs60590470	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60742518	0.85[EUR][1000 genomes]
rs61514727	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6490279	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6490282	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7132099	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7139151	0.94[ASN][1000 genomes]
rs7297564	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7298081	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7304560	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7956221	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7957325	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv560434	chr12:120534147-120545718	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
4	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:120529000-120546800	Strong transcription	Dnd41	blood
6	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
7	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:120534600-120546800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:120534600-120547200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:120534600-120548200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:120539200-120552600	Weak transcription	Fetal Brain Male	brain
12	chr12:120539600-120545800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr12:120539600-120546600	Strong transcription	Fetal Brain Female	brain
14	chr12:120539600-120551600	Weak transcription	Fetal Lung	lung
15	chr12:120539600-120552200	Strong transcription	Fetal Stomach	stomach
16	chr12:120540000-120546400	Weak transcription	Colon Smooth Muscle	Colon
17	chr12:120540000-120546800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:120540000-120547600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
20	chr12:120540400-120546000	Strong transcription	Primary T cells from cord blood	blood
21	chr12:120540400-120546600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:120540400-120546600	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr12:120540600-120545800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:120540600-120546000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:120540600-120546400	Weak transcription	Psoas Muscle	Psoas
26	chr12:120540600-120546600	Strong transcription	Fetal Thymus	thymus
27	chr12:120540800-120546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:120540800-120546000	Strong transcription	GM12878-XiMat	blood
29	chr12:120540800-120546200	Weak transcription	Right Atrium	heart
30	chr12:120540800-120546600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:120540800-120547200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:120541000-120545800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:120541200-120545800	Strong transcription	Lung	lung
34	chr12:120541200-120546000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:120541200-120546000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:120541200-120546400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:120541200-120546600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:120541200-120546600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:120541200-120546800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:120541200-120546800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:120541200-120546800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr12:120541200-120546800	Strong transcription	NHEK	skin
43	chr12:120541400-120546600	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:120541400-120547000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:120541600-120546600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr12:120541600-120548400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:120541600-120551000	Weak transcription	HSMM	muscle
48	chr12:120541800-120548800	Weak transcription	K562	blood
49	chr12:120541800-120552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:120541800-120552800	Weak transcription	Brain Substantia Nigra	brain

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