Variant report

Variant	rs146883660
Chromosome Location	chr12:118573013-118573014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:118572670-118573357	HepG2	liver:	n/a	n/a
2	GATA3	chr12:118572758-118573146	T-47D	breast:	n/a	n/a
3	ZNF384	chr12:118572823-118574139	K562	blood:	n/a	n/a
4	ARID3A	chr12:118572774-118573040	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:118572930-118573066	K562	blood:	n/a	n/a
6	SETDB1	chr12:118572800-118573923	U2OS	brain:	n/a	n/a
7	RCOR1	chr12:118572920-118574105	K562	blood:	n/a	n/a
8	POLR2A	chr12:118572878-118573064	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:118572740-118573152	HepG2	liver:	n/a	n/a
10	BHLHE40	chr12:118572825-118573025	K562	blood:	n/a	n/a
11	ZNF143	chr12:118573013-118573017	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118572886..118574851-chr17:57922727..57925338,2	MCF-7	breast:
2	chr12:118498119..118500024-chr12:118572981..118575568,2	K562	blood:
3	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
4	chr12:118499217..118500774-chr12:118572851..118574591,2	MCF-7	breast:
5	chr12:118558694..118561471-chr12:118568462..118574858,6	MCF-7	breast:
6	chr12:118557596..118560350-chr12:118572704..118574934,3	MCF-7	breast:
7	chr12:118496436..118502396-chr12:118572063..118576805,10	MCF-7	breast:
8	chr12:118572169..118574578-chr12:118813281..118815774,2	MCF-7	breast:
9	chr12:118572856..118575962-chr12:118597469..118600285,3	K562	blood:

No data

Variant related genes	Relation type
PEBP1	TF binding region
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000201524	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	esv3406515	chr12:118572594-118575442	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
2	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
3	chr12:118559200-118573400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:118559200-118573400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:118563200-118573400	Weak transcription	Lung	lung
6	chr12:118564400-118573200	Weak transcription	Fetal Stomach	stomach
7	chr12:118566800-118573200	Weak transcription	Right Atrium	heart
8	chr12:118567400-118573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:118569800-118573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:118569800-118573600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:118570200-118573400	Weak transcription	Colonic Mucosa	Colon
12	chr12:118570200-118573600	Weak transcription	Stomach Mucosa	stomach
13	chr12:118570400-118573400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:118572200-118573200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr12:118572200-118573200	Flanking Active TSS	Dnd41	blood
16	chr12:118572600-118573200	Enhancers	Brain Substantia Nigra	brain
17	chr12:118572600-118573400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:118572600-118573600	Flanking Active TSS	Liver	Liver
19	chr12:118572600-118574800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:118572600-118575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:118572600-118575400	Active TSS	A549	lung
22	chr12:118572600-118575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr12:118572800-118573200	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:118572800-118573200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr12:118572800-118573200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:118572800-118573200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:118572800-118573200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr12:118572800-118573200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:118572800-118573200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr12:118572800-118573200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:118572800-118573200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:118572800-118573200	Enhancers	Adipose Nuclei	Adipose
33	chr12:118572800-118573200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr12:118572800-118573200	Active TSS	Brain Cingulate Gyrus	brain
35	chr12:118572800-118573200	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr12:118572800-118573200	Enhancers	Colon Smooth Muscle	Colon
37	chr12:118572800-118573200	Enhancers	Esophagus	oesophagus
38	chr12:118572800-118573200	Enhancers	Fetal Muscle Leg	muscle
39	chr12:118572800-118573200	Enhancers	Pancreas	Pancrea
40	chr12:118572800-118573200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr12:118572800-118573200	Enhancers	Right Ventricle	heart
42	chr12:118572800-118573200	Enhancers	HMEC	breast
43	chr12:118572800-118573200	Enhancers	Osteobl	bone
44	chr12:118572800-118573400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:118572800-118573400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr12:118572800-118573400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:118572800-118573400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:118572800-118573400	Enhancers	Fetal Brain Male	brain
49	chr12:118572800-118573400	Enhancers	Fetal Heart	heart
50	chr12:118572800-118573400	Enhancers	Gastric	stomach

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