Variant report

Variant	rs12322238
Chromosome Location	chr12:123205436-123205437
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	FOS	chr12:123204960-123206116	MCF10A-Er-Src	breast:	n/a	n/a
2	NFIC	chr12:123204701-123206291	GM12878	blood:	n/a	n/a
3	MEF2A	chr12:123204779-123206167	GM12878	blood:	n/a	chr12:123205217-123205231 chr12:123205095-123205103 chr12:123205116-123205130
4	HNF4A	chr12:123205425-123205962	HepG2	liver:	n/a	chr12:123205744-123205766 chr12:123205719-123205734
5	RUNX3	chr12:123204771-123206188	GM12878	blood:	n/a	n/a
6	FOXM1	chr12:123204725-123205447	GM12878	blood:	n/a	n/a
7	FOXM1	chr12:123204910-123205561	GM12878	blood:	n/a	n/a
8	MYBL2	chr12:123205383-123206064	HepG2	liver:	n/a	n/a
9	HEY1	chr12:123205405-123205946	HepG2	liver:	n/a	n/a
10	SP1	chr12:123205411-123206000	HepG2	liver:	n/a	n/a
11	HNF4G	chr12:123205407-123206045	HepG2	liver:	n/a	chr12:123205744-123205766
12	NFIC	chr12:123204787-123206143	GM12878	blood:	n/a	n/a
13	TEAD4	chr12:123205436-123206006	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:123204862-123206359	MCF10A-Er-Src	breast:	n/a	n/a
15	MTA3	chr12:123204716-123206236	GM12878	blood:	n/a	n/a
16	PML	chr12:123204819-123206255	GM12878	blood:	n/a	n/a
17	FOS	chr12:123204902-123206113	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr12:123204917-123206119	MCF10A-Er-Src	breast:	n/a	n/a
19	MEF2A	chr12:123204836-123205518	GM12878	blood:	n/a	chr12:123205217-123205231 chr12:123205095-123205103 chr12:123205116-123205130
20	NFIC	chr12:123205413-123206062	HepG2	liver:	n/a	n/a
21	CEBPB	chr12:123204643-123205457	GM12878	blood:	n/a	chr12:123205169-123205182
22	IKZF1	chr12:123204830-123206147	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123204711..123206759-chr12:123209537..123212379,2	MCF-7	breast:
2	chr12:123204275..123207099-chr12:123214252..123216398,2	MCF-7	breast:

Variant related genes	Relation type
HCAR3	TF binding region
ENSG00000270134	Chromatin interaction
ENSG00000196917	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11059549	0.82[AFR][1000 genomes]
rs12308931	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960134	0.97[AFR][1000 genomes];1.00[AMR][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	esv13329	chr12:123178106-123210671	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	esv3348872	chr12:123192296-123213461	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123200200-123205600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:123200800-123207800	Weak transcription	Lung	lung
3	chr12:123201000-123207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:123201200-123206600	Weak transcription	Esophagus	oesophagus
5	chr12:123201200-123214600	Weak transcription	Spleen	Spleen
6	chr12:123201400-123206400	Weak transcription	Fetal Thymus	thymus
7	chr12:123201400-123209400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:123201400-123210000	Weak transcription	Primary B cells from cord blood	blood
9	chr12:123203400-123206600	Weak transcription	Right Atrium	heart
10	chr12:123204200-123205800	Enhancers	Adipose Nuclei	Adipose
11	chr12:123204200-123208200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr12:123204200-123208200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr12:123204400-123208000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:123204600-123205800	Enhancers	Placenta	Placenta
15	chr12:123204600-123207000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:123204600-123207200	Enhancers	Fetal Intestine Large	intestine
17	chr12:123204800-123205600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:123204800-123205800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:123204800-123205800	Enhancers	Duodenum Mucosa	Duodenum
20	chr12:123204800-123205800	Enhancers	Hela-S3	cervix
21	chr12:123204800-123205800	Flanking Active TSS	HMEC	breast
22	chr12:123204800-123205800	Enhancers	NH-A	brain
23	chr12:123204800-123205800	Enhancers	NHDF-Ad	bronchial
24	chr12:123204800-123206200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:123204800-123207000	Enhancers	Fetal Intestine Small	intestine
26	chr12:123204800-123207000	Enhancers	HUVEC	blood vessel
27	chr12:123204800-123208200	Enhancers	HepG2	liver
28	chr12:123205200-123205600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:123205200-123205600	Enhancers	GM12878-XiMat	blood
30	chr12:123205200-123205600	Enhancers	NHEK	skin
31	chr12:123205200-123205800	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:123205200-123206400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:123205200-123206800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:123205200-123207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr12:123205200-123214600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:123205400-123205800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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