Variant report

Variant	rs60596226
Chromosome Location	chr12:122148421-122148422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr12:122148290-122148541	HepG2	liver:	n/a	chr12:122148377-122148392 chr12:122148354-122148369
2	TCF7L2	chr12:122147966-122148450	HEK293	kidney:	n/a	n/a
3	CTCF	chr12:122148360-122148510	HEK293	kidney:	n/a	n/a
4	HNF4A	chr12:122148187-122148462	HepG2	liver:	n/a	chr12:122148377-122148392 chr12:122148354-122148369
5	HNF4G	chr12:122148238-122148481	HepG2	liver:	n/a	chr12:122148378-122148393 chr12:122148353-122148368
6	ZNF263	chr12:122148040-122149030	HEK293-T-REx	kidney:	n/a	n/a
7	KAP1	chr12:122147712-122148505	HEK293	kidney:	n/a	n/a
8	NFIC	chr12:122148298-122148560	HepG2	liver:	n/a	n/a
9	SETDB1	chr12:122147598-122148712	U2OS	brain:	n/a	n/a
10	KAP1	chr12:122147513-122148502	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122125187..122126836-chr12:122146753..122149407,2	MCF-7	breast:
2	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
3	chr12:122145450..122152863-chr12:122233897..122241914,16	MCF-7	breast:

Variant related genes	Relation type
TMEM120B	TF binding region
ENSG00000272849	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2871131	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56331304	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73227955	0.95[EUR][1000 genomes]
rs73229914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73229915	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7398276	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122121800-122149600	Weak transcription	Right Atrium	heart
2	chr12:122142600-122149800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:122142800-122149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:122146000-122149400	Weak transcription	Brain Substantia Nigra	brain
5	chr12:122146400-122149400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:122146400-122149600	Enhancers	Fetal Intestine Large	intestine
7	chr12:122146400-122149800	Enhancers	Fetal Intestine Small	intestine
8	chr12:122146800-122149400	Enhancers	HepG2	liver
9	chr12:122147200-122149400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:122147200-122149400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:122147200-122149600	Weak transcription	Thymus	Thymus
12	chr12:122147400-122148800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:122147400-122148800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:122147400-122149400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:122147400-122149400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:122147400-122149800	Enhancers	Fetal Muscle Leg	muscle
17	chr12:122147600-122149200	Weak transcription	Fetal Thymus	thymus
18	chr12:122147600-122149400	Weak transcription	HSMM	muscle
19	chr12:122147800-122148600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:122148000-122149000	Weak transcription	Fetal Heart	heart
21	chr12:122148000-122149400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:122148000-122149400	Weak transcription	Stomach Mucosa	stomach
23	chr12:122148000-122149600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:122148000-122149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:122148000-122149600	Enhancers	Adipose Nuclei	Adipose
26	chr12:122148000-122149600	Enhancers	Liver	Liver
27	chr12:122148000-122149800	Enhancers	Fetal Muscle Trunk	muscle
28	chr12:122148000-122149800	Weak transcription	HSMMtube	muscle
29	chr12:122148200-122149200	Weak transcription	Psoas Muscle	Psoas
30	chr12:122148200-122149400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:122148200-122149400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:122148200-122149400	Weak transcription	A549	lung
33	chr12:122148200-122149400	Weak transcription	K562	blood
34	chr12:122148200-122149400	Weak transcription	NHEK	skin
35	chr12:122148200-122149600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:122148200-122149600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:122148200-122149600	Enhancers	Pancreas	Pancrea
38	chr12:122148200-122149800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:122148200-122149800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:122148200-122149800	Weak transcription	NH-A	brain
41	chr12:122148400-122148600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:122148400-122148800	Weak transcription	GM12878-XiMat	blood
43	chr12:122148400-122149000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122148400-122149200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:122148400-122149400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr12:122148400-122149400	Weak transcription	Placenta Amnion	Placenta Amnion

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