Variant report

Variant	rs58111134
Chromosome Location	chr12:122617558-122617559
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	POLR2A	chr12:122617256-122617559	K562	blood:	n/a	n/a
2	POLR2A	chr12:122617487-122617878	K562	blood:	n/a	n/a
3	POLR2A	chr12:122617544-122617900	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122237535..122239175-chr12:122615954..122617703,2	MCF-7	breast:

Variant related genes	Relation type
MLXIP	TF binding region
ENSG00000139725	Chromatin interaction
ENSG00000212694	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11057624	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304283	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376745	0.85[AFR][1000 genomes]
rs28530722	0.85[AFR][1000 genomes]
rs28682510	0.85[AFR][1000 genomes]
rs57376797	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122608200-122618800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:122608200-122618800	Weak transcription	GM12878-XiMat	blood
4	chr12:122608400-122625400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:122608600-122632800	Strong transcription	Fetal Stomach	stomach
6	chr12:122610000-122621800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:122610200-122619600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:122610200-122629200	Strong transcription	Primary T cells from cord blood	blood
9	chr12:122610200-122629200	Strong transcription	Fetal Thymus	thymus
10	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:122610400-122630600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:122610600-122629200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:122610600-122629400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:122610600-122633200	Weak transcription	Right Atrium	heart
15	chr12:122610800-122628800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr12:122610800-122630600	Strong transcription	Thymus	Thymus
17	chr12:122611200-122620600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:122611200-122620800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:122611200-122626000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:122611200-122630400	Strong transcription	Gastric	stomach
21	chr12:122611400-122618600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:122611400-122628800	Strong transcription	Pancreas	Pancrea
23	chr12:122611400-122629800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr12:122611400-122630400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr12:122611600-122621200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:122611600-122629000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr12:122611600-122630000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:122611600-122630600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:122611800-122620800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr12:122611800-122620800	Strong transcription	Brain Germinal Matrix	brain
31	chr12:122611800-122621000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr12:122611800-122622000	Strong transcription	Placenta	Placenta
33	chr12:122611800-122624200	Strong transcription	Fetal Intestine Large	intestine
34	chr12:122611800-122624200	Strong transcription	Dnd41	blood
35	chr12:122611800-122624400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:122611800-122626400	Strong transcription	Spleen	Spleen
37	chr12:122611800-122628800	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:122611800-122628800	Strong transcription	Fetal Lung	lung
39	chr12:122611800-122628800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr12:122611800-122629000	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:122611800-122629400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:122612000-122617600	Strong transcription	Ovary	ovary
43	chr12:122612000-122617800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:122612000-122620800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:122612000-122620800	Strong transcription	Brain Anterior Caudate	brain
46	chr12:122612000-122621000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr12:122612000-122622200	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:122612000-122622400	Strong transcription	Brain Hippocampus Middle	brain
49	chr12:122612000-122628600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:122612000-122628800	Strong transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links