Variant report

Variant	rs28461264
Chromosome Location	chr12:122012328-122012329
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122007608..122010273-chr12:122010916..122013291,2	K562	blood:
2	chr12:122009958..122015218-chr12:122015373..122021843,8	K562	blood:
3	chr12:122005636..122007541-chr12:122010877..122013772,3	K562	blood:
4	chr12:122011717..122015728-chr12:122062639..122068006,6	MCF-7	breast:
5	chr12:122011020..122013695-chr12:122061585..122064129,2	K562	blood:
6	chr12:122011808..122013915-chr12:122017353..122019208,2	MCF-7	breast:
7	chr12:122011245..122016704-chr12:122016774..122020216,11	MCF-7	breast:
8	chr12:122010550..122012832-chr12:122050022..122051605,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000182500	Chromatin interaction
ENSG00000089094	Chromatin interaction
ENSG00000256742	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28468612	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28490151	1.00[EUR][1000 genomes]
rs4981001	1.00[EUR][1000 genomes]
rs4981012	1.00[EUR][1000 genomes]
rs60186830	1.00[EUR][1000 genomes]
rs7313954	0.87[EUR][1000 genomes]
rs73227908	1.00[EUR][1000 genomes]
rs73227911	1.00[EUR][1000 genomes]
rs73227913	1.00[EUR][1000 genomes]
rs7397580	0.93[EUR][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	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
2	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121976600-122014600	Weak transcription	Colonic Mucosa	Colon
2	chr12:121977200-122015200	Weak transcription	Small Intestine	intestine
3	chr12:121987600-122016800	Weak transcription	Aorta	Aorta
4	chr12:121990600-122013600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:121996200-122015400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:121999400-122014200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:122001200-122013400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:122002400-122012800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr12:122003000-122013000	Weak transcription	HepG2	liver
10	chr12:122003200-122013800	Weak transcription	Esophagus	oesophagus
11	chr12:122004200-122013400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122005200-122014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:122006200-122014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:122006400-122013800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:122006600-122013200	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr12:122006600-122014800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr12:122006800-122013000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:122007000-122013800	Strong transcription	H9 Cell Line	embryonic stem cell
19	chr12:122007000-122014600	Weak transcription	Fetal Kidney	kidney
20	chr12:122007200-122013600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:122007400-122013800	Weak transcription	Fetal Brain Male	brain
22	chr12:122007400-122014400	Weak transcription	GM12878-XiMat	blood
23	chr12:122007600-122012600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr12:122007600-122014400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:122007600-122014600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:122007600-122014600	Weak transcription	A549	lung
27	chr12:122007600-122014600	Weak transcription	HSMM	muscle
28	chr12:122007800-122013200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:122008000-122012400	Weak transcription	NHLF	lung
30	chr12:122008000-122013600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:122008000-122014600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:122008000-122016000	Weak transcription	Right Atrium	heart
33	chr12:122008200-122012600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:122008200-122012600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:122008200-122013200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:122008200-122013200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:122008200-122013400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:122008200-122014000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:122008200-122014000	Strong transcription	Fetal Thymus	thymus
40	chr12:122008200-122014800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:122008400-122013200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:122008400-122013800	Strong transcription	Fetal Stomach	stomach
43	chr12:122008600-122012800	Strong transcription	Brain Germinal Matrix	brain
44	chr12:122008600-122013800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:122008800-122014200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr12:122009200-122012600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr12:122009200-122013800	Weak transcription	NH-A	brain
48	chr12:122009200-122014200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:122009600-122013400	Weak transcription	Fetal Brain Female	brain
50	chr12:122009600-122014800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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