Variant report

Variant	rs12300872
Chromosome Location	chr12:51318048-51318049
allele	C/T
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	IRF1	chr12:51318048-51318922	K562	blood:	n/a	chr12:51318289-51318303 chr12:51318289-51318299 chr12:51318291-51318300 chr12:51318285-51318299
2	ZNF384	chr12:51317936-51319337	GM12878	blood:	n/a	n/a
3	SPI1	chr12:51317902-51318547	GM12891	blood:	n/a	chr12:51318293-51318306 chr12:51318290-51318299 chr12:51318292-51318305
4	RCOR1	chr12:51318026-51318710	GM12878	blood:	n/a	n/a
5	NFIC	chr12:51317910-51318685	GM12878	blood:	n/a	n/a
6	FOXA1	chr12:51318027-51318680	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:51317938-51318994	MCF10A-Er-Src	breast:	n/a	n/a
8	REST	chr12:51317959-51318485	HL-60	blood:	n/a	n/a
9	POLR2A	chr12:51317975-51318695	GM12891	blood:	n/a	n/a
10	POLR2A	chr12:51318038-51318933	K562	blood:	n/a	n/a
11	TBP	chr12:51317860-51319054	K562	blood:	n/a	n/a
12	POLR2A	chr12:51318027-51318611	GM12892	blood:	n/a	n/a
13	ATF2	chr12:51318006-51318665	GM12878	blood:	n/a	n/a
14	POLR2A	chr12:51318048-51318925	K562	blood:	n/a	n/a
15	SPI1	chr12:51317879-51318523	HL-60	blood:	n/a	chr12:51318293-51318306 chr12:51318290-51318299 chr12:51318292-51318305
16	MAX	chr12:51317869-51319084	ECC-1	luminal epithelium:	n/a	n/a
17	MEF2A	chr12:51318002-51318626	GM12878	blood:	n/a	n/a
18	TEAD4	chr12:51317928-51318938	K562	blood:	n/a	n/a
19	NFIC	chr12:51318017-51318616	GM12878	blood:	n/a	n/a
20	FOXM1	chr12:51317791-51319042	ECC-1	luminal epithelium:	n/a	n/a
21	MAZ	chr12:51317940-51318583	GM12878	blood:	n/a	n/a
22	ZMIZ1	chr12:51317958-51318662	K562	blood:	n/a	n/a
23	BCLAF1	chr12:51317897-51318681	GM12878	blood:	n/a	chr12:51318290-51318299
24	POLR2A	chr12:51317998-51319011	U87	brain:	n/a	n/a
25	MTA3	chr12:51318014-51318600	GM12878	blood:	n/a	n/a
26	POLR2A	chr12:51318048-51319078	SK-N-SH	brain:	n/a	n/a
27	SPI1	chr12:51318008-51318437	K562	blood:	n/a	chr12:51318293-51318306 chr12:51318290-51318299 chr12:51318292-51318305
28	MEF2A	chr12:51318007-51318471	GM12878	blood:	n/a	n/a
29	IRF1	chr12:51318047-51319005	K562	blood:	n/a	chr12:51318289-51318303 chr12:51318289-51318299 chr12:51318291-51318300 chr12:51318285-51318299
30	POLR2A	chr12:51317866-51319422	PBDE	blood:	n/a	n/a
31	EP300	chr12:51317943-51319178	ECC-1	luminal epithelium:	n/a	chr12:51318296-51318310 chr12:51318294-51318303 chr12:51318290-51318304
32	TCF12	chr12:51318029-51318989	ECC-1	luminal epithelium:	n/a	n/a
33	SPI1	chr12:51317929-51318450	K562	blood:	n/a	chr12:51318293-51318306 chr12:51318290-51318299 chr12:51318292-51318305
34	MAZ	chr12:51318030-51318888	K562	blood:	n/a	n/a
35	FOXM1	chr12:51318016-51318609	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr12:51318023-51319031	K562	blood:	n/a	n/a
37	POLR2A	chr12:51318024-51318934	K562	blood:	n/a	n/a
38	PAX5	chr12:51317999-51318520	GM12878	blood:	n/a	chr12:51318293-51318302 chr12:51318290-51318299
39	NFIC	chr12:51317926-51319251	ECC-1	luminal epithelium:	n/a	n/a
40	RUNX3	chr12:51317991-51318620	GM12878	blood:	n/a	n/a
41	SREBP1	chr12:51317894-51319083	GM12878	blood:	n/a	n/a
42	HEY1	chr12:51318014-51318671	K562	blood:	n/a	n/a
43	SPI1	chr12:51318015-51318479	HL-60	blood:	n/a	chr12:51318293-51318306 chr12:51318290-51318299 chr12:51318292-51318305
44	RUNX3	chr12:51317877-51318671	GM12878	blood:	n/a	n/a
45	PML	chr12:51317915-51318671	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:51318028-51318864	K562	blood:	n/a	n/a
47	POLR2A	chr12:51317877-51318694	MCF10A-Er-Src	breast:	n/a	n/a
48	SPI1	chr12:51317639-51318803	GM12878	blood:	n/a	chr12:51318293-51318306 chr12:51318290-51318299 chr12:51318292-51318305
49	MAX	chr12:51317968-51318566	K562	blood:	n/a	n/a
50	SP1	chr12:51318042-51318557	GM12878	blood:	n/a	chr12:51318379-51318386 chr12:51318346-51318355

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51318042-51318092	NHBE	bronchial:	n/a
2	chr12:51318042-51318092	AG10803	skin:	n/a
3	chr12:51318042-51318092	HAEpiC	amniotic membrane:	n/a
4	chr12:51318042-51318092	NB4	blood:	n/a
5	chr12:51318042-51318092	GM12878	blood:	n/a
6	chr12:51318042-51318092	Jurkat	blood:	n/a
7	chr12:51318042-51318092	Hepatocyte	liver:	n/a
8	chr12:51318042-51318092	AG09319	gingival:	n/a
9	chr12:51318042-51318092	GM06990	blood:	n/a
10	chr12:51318042-51318092	SKMC	muscle:	n/a
11	chr12:51318042-51318092	AoSMC	blood vessel:	n/a
12	chr12:51318042-51318092	MCF-7	breast:	n/a
13	chr12:51318042-51318092	HCF	heart:	n/a
14	chr12:51318042-51318092	MCF10A-Er-Src	breast:	n/a
15	chr12:51318042-51318092	AG04450	lung:	fetal
16	chr12:51318042-51318092	ECC-1	luminal epithelium:	n/a
17	chr12:51318042-51318092	PrEC	prostate:	n/a
18	chr12:51318042-51318092	BJ	skin:	n/a
19	chr12:51318042-51318092	SK-N-MC	brain:	n/a
20	chr12:51318042-51318092	HRCEpiC	kidney:	n/a
21	chr12:51318042-51318092	IMR90	lung:	fetal
22	chr12:51318042-51318092	PANC-1	pancreas:	n/a
23	chr12:51318042-51318092	HCM	heart:	n/a
24	chr12:51318042-51318092	ProgFib	skin:	n/a
25	chr12:51318042-51318092	GM12891	blood:	n/a
26	chr12:51318042-51318092	CMK	blood:	n/a
27	chr12:51318042-51318092	SK-N-SH_RA	brain:	n/a
28	chr12:51318042-51318092	K562	blood:	n/a
29	chr12:51318042-51318092	Hela-S3	cervix:	n/a
30	chr12:51318042-51318092	RPTEC	kidney:	n/a
31	chr12:51318042-51318092	H1-hESC	embryonic stem cell:	embryo
32	chr12:51318042-51318092	HNPCEpiC	eye:	n/a
33	chr12:51318042-51318092	Caco-2	colon:	n/a
34	chr12:51318042-51318092	HEEpiC	esophagus:	n/a
35	chr12:51318042-51318092	ovcar-3	ovarian:	n/a
36	chr12:51318042-51318092	HepG2	liver:	n/a
37	chr12:51318042-51318092	U87	brain:	n/a
38	chr12:51318042-51318092	BE2_C	brain:	n/a
39	chr12:51318042-51318092	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:51318042-51318092	HRE	kidney:	n/a
41	chr12:51318042-51318092	HIPEpiC	eye:	n/a
42	chr12:51318042-51318092	HCPEpiC	choroid plexus:	n/a
43	chr12:51318042-51318092	AG09309	skin:	n/a
44	chr12:51318042-51318092	AG04449	skin:	fetal
45	chr12:51318042-51318092	HMEC	breast:	n/a
46	chr12:51318042-51318092	T-47D	breast:	n/a
47	chr12:51318042-51318092	HRPEpiC	eye:	n/a
48	chr12:51318042-51318092	NH-A	brain:	n/a
49	chr12:51318042-51318092	NHDF-neo	bronchial:	n/a
50	chr12:51318042-51318092	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51317560..51319540-chr12:51475708..51478523,2	K562	blood:
2	chr12:51156231..51158960-chr12:51317356..51321250,3	K562	blood:
3	chr12:51316948..51319607-chr12:51419309..51421732,3	K562	blood:
4	chr12:51156536..51158196-chr12:51316559..51318763,2	K562	blood:
5	chr12:51316948..51319607-chr12:51419309..51421732,2	K562	blood:
6	chr12:51155985..51158147-chr12:51315840..51318391,2	MCF-7	breast:

Variant related genes	Relation type
METTL7A	TF binding region
METTL7A	CpG island
ENSG00000123268	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11169614	0.90[AFR][1000 genomes]
rs56809906	0.87[AFR][1000 genomes]
rs56979742	0.85[AFR][1000 genomes]
rs61550892	0.92[AFR][1000 genomes]
rs73296205	0.87[AFR][1000 genomes]
rs73308073	0.92[AFR][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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51313600-51318800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:51316000-51318800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:51316400-51318200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:51316400-51318200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr12:51316600-51319200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:51316600-51321400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr12:51316600-51322000	Active TSS	Aorta	Aorta
8	chr12:51316600-51322000	Active TSS	Right Atrium	heart
9	chr12:51316800-51319200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:51317000-51318200	Flanking Active TSS	Liver	Liver
11	chr12:51317000-51319600	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:51317200-51318200	Flanking Active TSS	Primary B cells from peripheral blood	blood
13	chr12:51317200-51318200	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr12:51317200-51319200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr12:51317200-51320800	Active TSS	Psoas Muscle	Psoas
16	chr12:51317400-51318200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:51317400-51318200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:51317400-51318200	Enhancers	Fetal Heart	heart
19	chr12:51317400-51318200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr12:51317400-51318200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr12:51317400-51318200	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr12:51317400-51318200	Enhancers	Small Intestine	intestine
23	chr12:51317400-51319200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:51317400-51319200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:51317400-51319400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr12:51317600-51318200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr12:51317600-51318200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:51317600-51318200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr12:51317600-51318200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:51317600-51318200	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr12:51317600-51318600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr12:51317600-51318600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:51317600-51318800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:51317600-51319000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr12:51317600-51319000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:51317600-51319000	Active TSS	Fetal Muscle Trunk	muscle
37	chr12:51317600-51319200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:51317600-51319200	Flanking Active TSS	NH-A	brain
39	chr12:51317600-51319400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr12:51317600-51319400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr12:51317600-51319400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:51317600-51319400	Flanking Active TSS	Osteobl	bone
43	chr12:51317600-51320400	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr12:51317600-51320800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr12:51317600-51321600	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr12:51317600-51321800	Active TSS	Brain Cingulate Gyrus	brain
47	chr12:51317600-51322800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:51317600-51323200	Active TSS	Brain Substantia Nigra	brain
49	chr12:51317800-51318200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:51317800-51318200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links