Variant report

Variant	rs12315345
Chromosome Location	chr12:106492989-106492990
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	MYBL2	chr12:106492381-106493086	HepG2	liver:	n/a	n/a
2	FOXA1	chr12:106492302-106493120	HepG2	liver:	n/a	chr12:106492855-106492867 chr12:106492853-106492868
3	HNF4G	chr12:106492415-106493067	HepG2	liver:	n/a	chr12:106492594-106492608
4	HNF4A	chr12:106492377-106492993	HepG2	liver:	n/a	chr12:106492594-106492608 chr12:106492593-106492608
5	NR2F2	chr12:106492612-106493232	MCF-7	breast:	n/a	n/a
6	HDAC2	chr12:106492368-106493123	HepG2	liver:	n/a	chr12:106492790-106492804 chr12:106492789-106492803 chr12:106492858-106492867
7	EP300	chr12:106492193-106493174	HepG2	liver:	n/a	chr12:106492690-106492704 chr12:106492858-106492868 chr12:106492683-106492692
8	MYBL2	chr12:106492262-106493183	HepG2	liver:	n/a	n/a
9	HDAC2	chr12:106492347-106493068	HepG2	liver:	n/a	chr12:106492790-106492804 chr12:106492789-106492803 chr12:106492858-106492867
10	NR2F2	chr12:106492270-106493243	HepG2	liver:	n/a	n/a
11	TCF7L2	chr12:106492086-106493005	HepG2	liver:	n/a	chr12:106492580-106492596 chr12:106492584-106492594 chr12:106492580-106492596 chr12:106492553-106492560 chr12:106492581-106492595 chr12:106492583-106492592 chr12:106492309-106492323 chr12:106492584-106492593
12	TCF12	chr12:106492371-106493248	A549	lung:	n/a	chr12:106492891-106492900
13	EP300	chr12:106492317-106493133	HepG2	liver:	n/a	chr12:106492690-106492704 chr12:106492858-106492868 chr12:106492683-106492692
14	TEAD4	chr12:106492372-106493162	HepG2	liver:	n/a	n/a
15	FOXA1	chr12:106492359-106493061	HepG2	liver:	n/a	chr12:106492855-106492867 chr12:106492853-106492868
16	HNF4A	chr12:106492354-106493092	HepG2	liver:	n/a	chr12:106492594-106492608 chr12:106492593-106492608
17	HNF4A	chr12:106492782-106493029	HepG2	liver:	n/a	n/a
18	FOXA2	chr12:106492290-106493328	HepG2	liver:	n/a	chr12:106492855-106492867
19	JUN	chr12:106492528-106493017	HepG2	liver:	n/a	n/a
20	RXRA	chr12:106492411-106493053	HepG2	liver:	n/a	n/a
21	EP300	chr12:106492287-106493003	HepG2	liver:	n/a	chr12:106492690-106492704 chr12:106492858-106492868 chr12:106492683-106492692
22	NFIC	chr12:106492282-106493149	HepG2	liver:	n/a	chr12:106492342-106492370
23	NR2F2	chr12:106492243-106493215	HepG2	liver:	n/a	n/a
24	SP1	chr12:106492291-106493107	HepG2	liver:	n/a	chr12:106492446-106492460
25	MAFK	chr12:106492642-106492993	HepG2	liver:	n/a	n/a
26	FOXA1	chr12:106492307-106493169	HepG2	liver:	n/a	chr12:106492855-106492867 chr12:106492853-106492868
27	NFIC	chr12:106492428-106493048	HepG2	liver:	n/a	n/a
28	FOXA1	chr12:106492271-106493197	HepG2	liver:	n/a	chr12:106492855-106492867 chr12:106492853-106492868
29	FOXA2	chr12:106492701-106493107	A549	lung:	n/a	chr12:106492855-106492867
30	ARID3A	chr12:106492366-106493193	HepG2	liver:	n/a	n/a
31	FOXA2	chr12:106492364-106493081	HepG2	liver:	n/a	chr12:106492855-106492867

No.	Distal block	Cell Line	Cell type
1	chr12:106492655..106494743-chr12:106531247..106533400,2	MCF-7	breast:
2	chr12:106491668..106493233-chr12:106494081..106496361,2	MCF-7	breast:
3	chr12:106325602..106327976-chr12:106491240..106494183,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257438	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11112863	0.81[AMR][1000 genomes]
rs15040	1.00[MEX][hapmap]
rs61243923	1.00[ASN][1000 genomes]
rs753924	1.00[MEX][hapmap]
rs7962923	1.00[MEX][hapmap]

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	nsv832509	chr12:106363888-106516221	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106458800-106500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:106461800-106499600	Weak transcription	Fetal Intestine Large	intestine
3	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
4	chr12:106481000-106493000	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr12:106485200-106500400	Weak transcription	HMEC	breast
6	chr12:106485400-106500800	Weak transcription	Lung	lung
7	chr12:106485600-106496200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:106485600-106500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:106485800-106495000	Strong transcription	HSMMtube	muscle
10	chr12:106486200-106493400	Enhancers	Brain Substantia Nigra	brain
11	chr12:106487400-106499400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:106487600-106500200	Weak transcription	NHLF	lung
13	chr12:106488600-106495600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:106489600-106494600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:106490000-106496800	Weak transcription	Aorta	Aorta
16	chr12:106490200-106493400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:106490200-106493400	Enhancers	Brain Hippocampus Middle	brain
18	chr12:106490400-106493400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:106490400-106494200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:106490600-106493200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:106490600-106493400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr12:106490600-106494600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:106490600-106498200	Weak transcription	Pancreas	Pancrea
24	chr12:106490800-106493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:106490800-106493400	Enhancers	Brain Cingulate Gyrus	brain
26	chr12:106490800-106494800	Weak transcription	Fetal Stomach	stomach
27	chr12:106490800-106499600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:106491000-106493400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr12:106491000-106493400	Enhancers	Fetal Heart	heart
30	chr12:106491000-106493600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:106491000-106495000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:106491000-106496600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:106491000-106499600	Weak transcription	Fetal Kidney	kidney
34	chr12:106491200-106493600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:106491200-106494400	Weak transcription	Adipose Nuclei	Adipose
36	chr12:106491200-106494600	Weak transcription	Gastric	stomach
37	chr12:106491200-106499800	Strong transcription	HSMM	muscle
38	chr12:106491200-106500000	Weak transcription	Fetal Lung	lung
39	chr12:106491200-106500800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:106491400-106493400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:106491400-106495400	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:106491400-106496600	Weak transcription	NHDF-Ad	bronchial
43	chr12:106491400-106499600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr12:106491600-106493400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:106491600-106493600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:106491600-106493600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr12:106491600-106495200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr12:106491600-106495600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:106491600-106496000	Weak transcription	NH-A	brain
50	chr12:106491600-106497200	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links