Variant report

Variant	rs12305773
Chromosome Location	chr12:51399909-51399910
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr12:51399338-51399996	MCF-7	breast:	n/a	n/a
2	GATA3	chr12:51399497-51399939	T-47D	breast:	n/a	n/a
3	TEAD4	chr12:51399499-51399917	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3AK20	chr12:51399189-51400063	MCF-7	breast:	n/a	n/a
5	ESR1	chr12:51399491-51399920	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr12:51399392-51399995	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr12:51399439-51399910	T-47D	breast:	n/a	n/a
8	EP300	chr12:51399358-51400047	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr12:51399383-51399983	T-47D	breast:	n/a	n/a
10	TEAD4	chr12:51399335-51399976	ECC-1	luminal epithelium:	n/a	n/a
11	GATA3	chr12:51399444-51399933	T-47D	breast:	n/a	n/a
12	POLR2A	chr12:51399886-51399941	HepG2	liver:	n/a	n/a
13	SP1	chr12:51399381-51399971	H1-hESC	embryonic stem cell:	n/a	chr12:51399707-51399718
14	YY1	chr12:51399367-51399921	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51399373..51401239-chr12:51441069..51443548,3	MCF-7	breast:
2	chr12:51397137..51401396-chr12:51418750..51422923,7	MCF-7	breast:
3	chr12:51397939..51400659-chr12:51662476..51664122,2	MCF-7	breast:
4	chr12:51396990..51399929-chr12:51402029..51404417,2	K562	blood:
5	chr12:51398011..51404686-chr12:51416862..51423754,14	MCF-7	breast:
6	chr12:51397752..51401111-chr12:51474159..51477147,3	MCF-7	breast:
7	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:

No data

Variant related genes	Relation type
SLC11A2	TF binding region
ENSG00000050426	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000272028	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082938	1.00[AFR][1000 genomes]
rs12300243	1.00[AFR][1000 genomes]
rs12308794	1.00[AFR][1000 genomes]
rs12311435	1.00[AFR][1000 genomes]
rs12315724	1.00[AFR][1000 genomes]
rs12320527	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr12:51381200-51402200	Strong transcription	Fetal Thymus	thymus
5	chr12:51381200-51402200	Weak transcription	Psoas Muscle	Psoas
6	chr12:51381200-51402400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:51381200-51403000	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:51381400-51403000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:51381800-51401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:51381800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:51381800-51402400	Strong transcription	Liver	Liver
12	chr12:51382000-51402000	Strong transcription	Fetal Stomach	stomach
13	chr12:51382000-51402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:51385600-51402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:51386800-51402200	Weak transcription	Right Atrium	heart
18	chr12:51388000-51401000	Strong transcription	Primary T cells from cord blood	blood
19	chr12:51388200-51402000	Strong transcription	Adipose Nuclei	Adipose
20	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
21	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
22	chr12:51390000-51400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
24	chr12:51390800-51402800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:51391000-51402200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:51392400-51401800	Strong transcription	Thymus	Thymus
27	chr12:51392600-51402400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr12:51393000-51402000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:51393400-51402000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:51394400-51402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:51394400-51403600	Weak transcription	Ovary	ovary
32	chr12:51395200-51402400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:51395400-51402600	Weak transcription	Fetal Brain Male	brain
34	chr12:51395600-51400200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:51396000-51402200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:51396000-51402400	Strong transcription	Left Ventricle	heart
37	chr12:51396800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:51396800-51402400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:51397400-51403000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:51397600-51400200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:51397600-51400400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:51397600-51400400	Strong transcription	Hela-S3	cervix
43	chr12:51397600-51400400	Strong transcription	Osteobl	bone
44	chr12:51397600-51401800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:51397600-51402000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:51397600-51402200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr12:51397600-51402400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:51397800-51400400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:51397800-51402200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr12:51397800-51402400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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