Variant report

Variant	rs531511449
Chromosome Location	chr12:50596058-50596059
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	ZBTB33	chr12:50595651-50596154	SK-N-SH	brain:	n/a	n/a
2	EP300	chr12:50595686-50596460	MCF-7	breast:	n/a	chr12:50596271-50596280
3	USF2	chr12:50595748-50596335	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr12:50595784-50596303	PANC-1	pancreas:	n/a	n/a
5	GATA3	chr12:50595608-50596475	T-47D	breast:	n/a	n/a
6	FOXA1	chr12:50595659-50596401	T-47D	breast:	n/a	n/a
7	USF1	chr12:50595741-50596524	ECC-1	luminal epithelium:	n/a	n/a
8	STAT3	chr12:50595758-50596380	MCF10A-Er-Src	breast:	n/a	n/a
9	JUN	chr12:50595701-50596508	Hela-S3	cervix:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
10	JUND	chr12:50595695-50596394	SK-N-SH	brain:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
11	RAD21	chr12:50595701-50596510	HCT-116	colon:	n/a	chr12:50596215-50596224 chr12:50596236-50596248 chr12:50596206-50596225 chr12:50595825-50595834
12	SP1	chr12:50595762-50596459	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFIC	chr12:50595654-50596369	SK-N-SH	brain:	n/a	n/a
14	FOXM1	chr12:50595592-50596701	ECC-1	luminal epithelium:	n/a	n/a
15	ZNF217	chr12:50595752-50596391	MCF-7	breast:	n/a	n/a
16	STAT3	chr12:50595698-50596381	Hela-S3	cervix:	n/a	n/a
17	FOS	chr12:50595678-50596384	MCF10A-Er-Src	breast:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
18	JUND	chr12:50595600-50596522	T-47D	breast:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
19	GATA3	chr12:50595370-50596724	MCF-7	breast:	n/a	n/a
20	NR2F2	chr12:50595631-50596534	MCF-7	breast:	n/a	n/a
21	EP300	chr12:50595602-50596530	T-47D	breast:	n/a	chr12:50596271-50596280
22	SP1	chr12:50595950-50596501	H1-hESC	embryonic stem cell:	n/a	n/a
23	EP300	chr12:50595680-50596464	T-47D	breast:	n/a	chr12:50596271-50596280
24	EP300	chr12:50595705-50596407	Hela-S3	cervix:	n/a	chr12:50596271-50596280
25	FOS	chr12:50595748-50596375	MCF10A-Er-Src	breast:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
26	POLR2A	chr12:50595646-50596165	PANC-1	pancreas:	n/a	n/a
27	TCF12	chr12:50595606-50596461	SK-N-SH	brain:	n/a	n/a
28	EP300	chr12:50595699-50596666	ECC-1	luminal epithelium:	n/a	chr12:50596271-50596280
29	GATA3	chr12:50595661-50596459	A549	lung:	n/a	n/a
30	GATA3	chr12:50595638-50596555	SK-N-SH	brain:	n/a	n/a
31	YY1	chr12:50595691-50596544	ECC-1	luminal epithelium:	n/a	n/a
32	GATA3	chr12:50595632-50596583	MCF-7	breast:	n/a	n/a
33	FOSL1	chr12:50595683-50596534	HCT-116	colon:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
34	SRF	chr12:50595593-50596608	HCT-116	colon:	n/a	n/a
35	PBX3	chr12:50595656-50596350	SK-N-SH	brain:	n/a	n/a
36	MAX	chr12:50595721-50596295	Hela-S3	cervix:	n/a	chr12:50596211-50596222
37	HDAC2	chr12:50595623-50596545	MCF-7	breast:	n/a	n/a
38	NFIC	chr12:50595645-50596624	ECC-1	luminal epithelium:	n/a	n/a
39	GATA2	chr12:50595667-50596590	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:50595663-50596446	HCT-116	colon:	n/a	n/a
41	FOS	chr12:50595699-50596339	MCF10A-Er-Src	breast:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
42	USF1	chr12:50595954-50596429	ECC-1	luminal epithelium:	n/a	n/a
43	EP300	chr12:50595618-50596482	SK-N-SH	brain:	n/a	chr12:50596271-50596280
44	FOSL1	chr12:50595605-50596544	HCT-116	colon:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
45	STAT3	chr12:50595660-50596644	MCF10A-Er-Src	breast:	n/a	n/a
46	TEAD4	chr12:50595609-50596520	ECC-1	luminal epithelium:	n/a	chr12:50595841-50595850
47	JUND	chr12:50595680-50596615	HCT-116	colon:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
48	JUND	chr12:50595758-50596393	H1-hESC	embryonic stem cell:	n/a	chr12:50596207-50596217 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867 chr12:50595857-50595867
49	RAD21	chr12:50595735-50596427	Hela-S3	cervix:	n/a	chr12:50596215-50596224 chr12:50596236-50596248 chr12:50596206-50596225 chr12:50595825-50595834
50	ESR1	chr12:50595706-50596415	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50594550..50596135-chr12:50613800..50616360,2	K562	blood:
2	chr12:50477720..50479464-chr12:50594213..50596665,2	MCF-7	breast:
3	chr12:50595947..50597727-chr12:50675991..50678551,2	MCF-7	breast:

Variant related genes	Relation type
LIMA1	TF binding region
ENSG00000203433	Chromatin interaction
ENSG00000050405	Chromatin interaction
ENSG00000066117	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
5	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
8	chr12:50579600-50598000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr12:50581800-50601000	Weak transcription	Brain Substantia Nigra	brain
10	chr12:50582400-50596200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr12:50582400-50598200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:50582400-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:50582600-50597000	Weak transcription	Fetal Brain Female	brain
14	chr12:50582600-50598000	Weak transcription	Psoas Muscle	Psoas
15	chr12:50582600-50598200	Weak transcription	Pancreas	Pancrea
16	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
17	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
19	chr12:50583400-50598200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:50583400-50600800	Strong transcription	Adipose Nuclei	Adipose
21	chr12:50584600-50596400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:50586000-50599600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:50587000-50597600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:50587800-50599800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:50588000-50599800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:50588400-50599600	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:50588400-50600200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:50588400-50600600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50588400-50600600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:50589400-50599800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:50589400-50599800	Strong transcription	GM12878-XiMat	blood
34	chr12:50589400-50600800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:50589600-50598400	Genic enhancers	Osteobl	bone
36	chr12:50590600-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:50590600-50600200	Strong transcription	Fetal Thymus	thymus
38	chr12:50590800-50599800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:50590800-50600000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:50591000-50598000	Weak transcription	Brain Germinal Matrix	brain
41	chr12:50591000-50600200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:50591000-50603000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:50591600-50597600	Weak transcription	Colonic Mucosa	Colon
44	chr12:50591600-50600000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:50591600-50615600	Weak transcription	HepG2	liver
46	chr12:50591800-50596200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr12:50592000-50599400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:50592000-50600200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:50592600-50598000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr12:50592800-50596200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links