Variant report

Variant	rs833838
Chromosome Location	chr12:49367402-49367403
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	CEBPB	chr12:49367391-49367669	IMR90	lung:	n/a	chr12:49367509-49367526 chr12:49367512-49367525 chr12:49367512-49367523
2	CEBPB	chr12:49367370-49367683	HepG2	liver:	n/a	chr12:49367509-49367526 chr12:49367512-49367525 chr12:49367512-49367523
3	CEBPB	chr12:49367356-49367695	K562	blood:	n/a	chr12:49367509-49367526 chr12:49367512-49367525 chr12:49367512-49367523
4	MAX	chr12:49367321-49367677	K562	blood:	n/a	n/a
5	CEBPB	chr12:49367338-49367686	HepG2	liver:	n/a	chr12:49367509-49367526 chr12:49367512-49367525 chr12:49367512-49367523
6	CEBPB	chr12:49367381-49367688	H1-hESC	embryonic stem cell:	n/a	chr12:49367509-49367526 chr12:49367512-49367525 chr12:49367512-49367523

No.	Distal block	Cell Line	Cell type
1	chr12:49366194..49369077-chr12:49377220..49379959,3	K562	blood:
2	chr12:49352012..49353906-chr12:49367184..49368972,2	MCF-7	breast:
3	chr12:49348867..49353149-chr12:49362475..49369316,15	MCF-7	breast:
4	chr12:49365267..49367565-chr12:49453514..49456197,2	K562	blood:
5	chr12:49365293..49369225-chr12:49386844..49389863,3	MCF-7	breast:

Variant related genes	Relation type
WNT1	TF binding region
WNT10B	TF binding region
RNU6-940P	TF binding region
ENSG00000167548	Chromatin interaction
ENSG00000134287	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000258283	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3803024	1.00[JPT][hapmap]

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	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
4	nsv558833	chr12:49358880-49478812	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49363600-49368000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
2	chr12:49364200-49368000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:49365400-49367800	Enhancers	HSMMtube	muscle
4	chr12:49365400-49368600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:49365600-49367800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr12:49365600-49368000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr12:49365600-49368200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr12:49365600-49368400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:49365600-49368400	Bivalent Enhancer	Placenta	Placenta
10	chr12:49365600-49368600	Bivalent Enhancer	NH-A	brain
11	chr12:49365800-49367800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr12:49365800-49368000	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr12:49365800-49368400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:49366000-49367600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr12:49366000-49367600	Weak transcription	A549	lung
16	chr12:49366000-49368000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:49366000-49368400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
18	chr12:49366000-49371000	Weak transcription	Pancreas	Pancrea
19	chr12:49366200-49368000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:49366200-49368000	Enhancers	HSMM	muscle
21	chr12:49366400-49367600	Enhancers	Osteobl	bone
22	chr12:49366400-49367800	Enhancers	Right Atrium	heart
23	chr12:49366400-49368200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
24	chr12:49366800-49367800	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr12:49366800-49368400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:49367000-49368000	Weak transcription	K562	blood
27	chr12:49367000-49368400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:49367000-49368400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:49367000-49368600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:49367200-49367600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:49367200-49367600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:49367200-49367600	ZNF genes & repeats	Spleen	Spleen
33	chr12:49367200-49367800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:49367200-49368400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr12:49367400-49367600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:49367400-49367600	Bivalent Enhancer	Ovary	ovary
37	chr12:49367400-49368000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
38	chr12:49367400-49368200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr12:49367400-49368400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:49367400-49368400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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