Variant report

Variant	rs28481788
Chromosome Location	chr12:121973230-121973231
allele	C/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	MAFK	chr12:121973120-121973317	Hela-S3	cervix:	n/a	chr12:121973168-121973184
2	RELA	chr12:121972300-121973488	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:121972301-121975787	GM12878	blood:	n/a	n/a
4	RELA	chr12:121972283-121973576	GM19193	blood:	n/a	n/a
5	EBF1	chr12:121973184-121973394	GM12878	blood:	n/a	n/a
6	MAFK	chr12:121973118-121973419	HepG2	liver:	n/a	chr12:121973168-121973184
7	POLR2A	chr12:121972255-121975759	GM12891	blood:	n/a	n/a
8	MTA3	chr12:121972246-121973609	GM12878	blood:	n/a	n/a
9	RUNX3	chr12:121972273-121973599	GM12878	blood:	n/a	n/a
10	MAFK	chr12:121973088-121973431	HepG2	liver:	n/a	chr12:121973168-121973184
11	RUNX3	chr12:121972246-121977055	GM12878	blood:	n/a	n/a
12	RELA	chr12:121972271-121973363	GM12891	blood:	n/a	n/a
13	MAFK	chr12:121973186-121973280	K562	blood:	n/a	n/a
14	MTA3	chr12:121972173-121975794	GM12878	blood:	n/a	n/a
15	NFIC	chr12:121972159-121973884	GM12878	blood:	n/a	n/a
16	PML	chr12:121972943-121973586	GM12878	blood:	n/a	n/a
17	TEAD4	chr12:121972758-121973278	H1-hESC	embryonic stem cell:	n/a	n/a
18	SP1	chr12:121972548-121973253	H1-hESC	embryonic stem cell:	n/a	chr12:121972821-121972835
19	MAZ	chr12:121972401-121973436	GM12878	blood:	n/a	n/a
20	MAFK	chr12:121973103-121973428	IMR90	lung:	n/a	chr12:121973168-121973184
21	MAFK	chr12:121972428-121973309	H1-hESC	embryonic stem cell:	n/a	chr12:121973168-121973184 chr12:121972592-121972603
22	MAFF	chr12:121973165-121973357	K562	blood:	n/a	chr12:121973169-121973183
23	EBF1	chr12:121973156-121973463	GM12878	blood:	n/a	n/a
24	MAFF	chr12:121973124-121973401	HepG2	liver:	n/a	chr12:121973169-121973183

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121768058..121770176-chr12:121972279..121974045,2	MCF-7	breast:
2	chr12:121972742..121976523-chr12:121985100..121990052,4	K562	blood:

Variant related genes	Relation type
KDM2B	TF binding region
ENSG00000089053	Chromatin interaction
ENSG00000089094	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs28373517	0.87[EUR][1000 genomes]
rs28379971	0.89[EUR][1000 genomes]
rs28397967	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28451063	0.88[EUR][1000 genomes]
rs28520411	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28604990	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28620502	0.87[EUR][1000 genomes]
rs28663167	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28667673	0.86[EUR][1000 genomes]
rs28671138	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28687122	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28728162	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28757753	0.88[EUR][1000 genomes]
rs28758996	0.84[EUR][1000 genomes]
rs4981000	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4981004	0.89[EUR][1000 genomes]
rs4981016	0.89[EUR][1000 genomes]
rs60370741	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560457	chr12:121956483-121976176	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121932000-121974400	Weak transcription	NHEK	skin
2	chr12:121938200-121973800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:121938400-121973600	Weak transcription	Psoas Muscle	Psoas
4	chr12:121947800-121973400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:121948200-121973600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:121950200-121973800	Weak transcription	HSMMtube	muscle
7	chr12:121959200-121974000	Weak transcription	Aorta	Aorta
8	chr12:121963000-121973600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:121966400-121973600	Weak transcription	Esophagus	oesophagus
10	chr12:121968200-121974600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:121968600-121973600	Genic enhancers	Fetal Stomach	stomach
12	chr12:121969000-121973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:121969000-121973800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:121969000-121973800	Weak transcription	HSMM	muscle
15	chr12:121969000-121973800	Weak transcription	Osteobl	bone
16	chr12:121969200-121973600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:121969200-121973600	Weak transcription	Pancreas	Pancrea
18	chr12:121969200-121974000	Weak transcription	HUVEC	blood vessel
19	chr12:121969200-121974600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:121969400-121974200	Strong transcription	Dnd41	blood
21	chr12:121970200-121973600	Enhancers	Ovary	ovary
22	chr12:121970200-121973800	Enhancers	Fetal Lung	lung
23	chr12:121970800-121973600	Weak transcription	Gastric	stomach
24	chr12:121971400-121974000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:121971600-121973600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr12:121971600-121973600	Enhancers	Lung	lung
27	chr12:121971600-121973800	Enhancers	Spleen	Spleen
28	chr12:121971600-121973800	Weak transcription	Hela-S3	cervix
29	chr12:121971600-121974600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr12:121971600-121974600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:121971800-121973400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:121971800-121973400	Weak transcription	Brain Germinal Matrix	brain
33	chr12:121971800-121973400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:121971800-121973400	Weak transcription	NHLF	lung
35	chr12:121971800-121973600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:121971800-121973600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:121971800-121973600	Weak transcription	Brain Angular Gyrus	brain
38	chr12:121971800-121973600	Weak transcription	Brain Anterior Caudate	brain
39	chr12:121971800-121973600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr12:121971800-121973600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:121971800-121973600	Weak transcription	Left Ventricle	heart
42	chr12:121971800-121973600	Weak transcription	HepG2	liver
43	chr12:121971800-121973600	Weak transcription	NHDF-Ad	bronchial
44	chr12:121971800-121973800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:121971800-121973800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:121971800-121974000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:121972000-121973600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:121972000-121973800	Weak transcription	Primary T cells from cord blood	blood
49	chr12:121972000-121973800	Enhancers	Placenta	Placenta
50	chr12:121972000-121974400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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