Variant report

Variant	rs56270657
Chromosome Location	chr12:118490901-118490902
allele	A/C
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	SP1	chr12:118489740-118491146	HCT-116	colon:	n/a	chr12:118491042-118491056 chr12:118490767-118490781
2	SIN3AK20	chr12:118489932-118490957	MCF-7	breast:	n/a	n/a
3	RCOR1	chr12:118489660-118490908	IMR90	lung:	n/a	n/a
4	MAX	chr12:118489778-118491349	A549	lung:	n/a	chr12:118491313-118491323
5	SMARCC2	chr12:118490066-118490947	Hela-S3	cervix:	n/a	n/a
6	JUND	chr12:118489917-118491274	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
7	RCOR1	chr12:118489919-118491015	HepG2	liver:	n/a	n/a
8	CEBPB	chr12:118489664-118490964	HCT-116	colon:	n/a	chr12:118490070-118490082
9	POLR2A	chr12:118490129-118491078	HepG2	liver:	n/a	n/a
10	CEBPB	chr12:118489912-118490979	HCT-116	colon:	n/a	chr12:118490070-118490082
11	POLR2A	chr12:118490213-118491240	Hela-S3	cervix:	n/a	n/a
12	BCL3	chr12:118489948-118491002	A549	lung:	n/a	n/a
13	E2F6	chr12:118489983-118491082	A549	lung:	n/a	chr12:118490614-118490631 chr12:118490617-118490628 chr12:118490614-118490631
14	EP300	chr12:118489865-118490911	A549	lung:	n/a	chr12:118490062-118490075 chr12:118490494-118490503
15	YY1	chr12:118490184-118490913	A549	lung:	n/a	n/a
16	SP1	chr12:118489881-118491051	A549	lung:	n/a	chr12:118490767-118490781
17	MAX	chr12:118490101-118490904	MCF-7	breast:	n/a	n/a
18	MXI1	chr12:118489987-118490975	IMR90	lung:	n/a	n/a
19	FOSL1	chr12:118489873-118491060	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
20	GATA3	chr12:118490030-118491053	A549	lung:	n/a	chr12:118490495-118490504
21	JUND	chr12:118489954-118491601	SK-N-SH	brain:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
22	ELF1	chr12:118490210-118490961	A549	lung:	n/a	n/a
23	FOSL2	chr12:118490133-118490925	HepG2	liver:	n/a	chr12:118490494-118490503 chr12:118490491-118490502 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
24	FOS	chr12:118490110-118490947	HUVEC	blood vessel:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
25	POLR2A	chr12:118489769-118490978	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr12:118489947-118491054	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:118490449-118491634	K562	blood:	n/a	n/a
28	FOSL1	chr12:118489726-118490966	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
29	HEY1	chr12:118490221-118491044	HepG2	liver:	n/a	n/a
30	POLR2A	chr12:118489880-118491712	PANC-1	pancreas:	n/a	n/a
31	RFX5	chr12:118490175-118490926	HepG2	liver:	n/a	n/a
32	TBP	chr12:118490118-118491007	HepG2	liver:	n/a	n/a
33	JUND	chr12:118489886-118491075	HCT-116	colon:	n/a	chr12:118490494-118490503 chr12:118490492-118490503 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501
34	SP1	chr12:118489944-118490991	HCT-116	colon:	n/a	chr12:118490767-118490781
35	MAX	chr12:118489893-118491222	A549	lung:	n/a	n/a
36	POLR2A	chr12:118490372-118491053	MCF10A-Er-Src	breast:	n/a	n/a
37	TCF12	chr12:118489812-118491019	A549	lung:	n/a	n/a
38	FOSL2	chr12:118489763-118491146	A549	lung:	n/a	chr12:118490494-118490503 chr12:118490491-118490502 chr12:118490495-118490506 chr12:118490493-118490504 chr12:118490494-118490501

No.	Distal block	Cell Line	Cell type
1	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
2	chr12:118405716..118409105-chr12:118489157..118492188,4	MCF-7	breast:
3	chr12:118480642..118483852-chr12:118489666..118492317,3	K562	blood:
4	chr12:118490804..118495433-chr12:118539497..118543131,5	MCF-7	breast:

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000171435	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55816764	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59687507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60495286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118456400-118491000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:118457200-118491400	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:118459800-118491000	Strong transcription	Fetal Brain Female	brain
5	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
6	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
7	chr12:118477200-118491800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
9	chr12:118481000-118493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
12	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:118486800-118491000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:118487200-118493000	Weak transcription	K562	blood
18	chr12:118487400-118491000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:118489400-118493000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:118489600-118491200	Enhancers	Fetal Lung	lung
22	chr12:118489600-118491400	Enhancers	Pancreas	Pancrea
23	chr12:118489600-118491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:118489600-118493000	Weak transcription	Dnd41	blood
25	chr12:118489600-118494200	Enhancers	Left Ventricle	heart
26	chr12:118489600-118494200	Enhancers	HUVEC	blood vessel
27	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
28	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:118489800-118491200	Enhancers	Brain Angular Gyrus	brain
30	chr12:118489800-118491600	Flanking Active TSS	A549	lung
31	chr12:118489800-118491800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr12:118489800-118491800	Enhancers	HSMMtube	muscle
33	chr12:118489800-118491800	Enhancers	NHLF	lung
34	chr12:118490000-118491000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:118490000-118491000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr12:118490000-118491200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:118490000-118491200	Enhancers	Esophagus	oesophagus
38	chr12:118490000-118491200	Genic enhancers	Fetal Muscle Leg	muscle
39	chr12:118490000-118491200	Enhancers	Right Ventricle	heart
40	chr12:118490000-118491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:118490000-118491400	Enhancers	Ovary	ovary
42	chr12:118490000-118491400	Enhancers	Psoas Muscle	Psoas
43	chr12:118490000-118491600	Enhancers	Brain Cingulate Gyrus	brain
44	chr12:118490000-118491600	Enhancers	Brain Hippocampus Middle	brain
45	chr12:118490000-118491600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:118490000-118491600	Enhancers	Brain Substantia Nigra	brain
47	chr12:118490000-118491600	Enhancers	Colon Smooth Muscle	Colon
48	chr12:118490000-118491600	Enhancers	Small Intestine	intestine
49	chr12:118490000-118491600	Enhancers	NHEK	skin
50	chr12:118490200-118491000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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