Variant report

Variant	rs369402683
Chromosome Location	chr12:51592681-51592682
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	HDAC2	chr12:51592196-51592697	HepG2	liver:	n/a	chr12:51592564-51592573 chr12:51592588-51592602 chr12:51592580-51592594 chr12:51592584-51592598 chr12:51592583-51592597 chr12:51592587-51592601 chr12:51592582-51592596
2	FOXA1	chr12:51592253-51592838	HepG2	liver:	n/a	chr12:51592601-51592613
3	FOXA1	chr12:51592260-51592725	HepG2	liver:	n/a	chr12:51592601-51592613
4	NFIC	chr12:51592332-51592781	HepG2	liver:	n/a	n/a
5	CEBPB	chr12:51592151-51592683	HepG2	liver:	n/a	n/a
6	FOXA1	chr12:51592206-51592863	HepG2	liver:	n/a	chr12:51592601-51592613
7	FOXA2	chr12:51592317-51592792	HepG2	liver:	n/a	chr12:51592601-51592613
8	FOXA1	chr12:51592309-51592815	HepG2	liver:	n/a	chr12:51592601-51592613
9	CEBPB	chr12:51592320-51592687	HepG2	liver:	n/a	n/a
10	MYBL2	chr12:51592314-51592834	HepG2	liver:	n/a	n/a
11	RCOR1	chr12:51592142-51592840	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:51566003..51568547-chr12:51591990..51595130,3	K562	blood:
2	chr12:51577036..51579030-chr12:51592102..51594138,2	MCF-7	breast:
3	chr12:51476096..51479039-chr12:51591968..51594960,3	K562	blood:
4	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:

Variant related genes	Relation type
POU6F1	TF binding region
ENSG00000135457	Chromatin interaction
ENSG00000110925	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	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
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
3	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
7	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
10	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
12	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:51582200-51608000	Weak transcription	NHLF	lung
14	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:51583400-51594200	Strong transcription	Fetal Stomach	stomach
19	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
20	chr12:51583600-51598400	Weak transcription	Osteobl	bone
21	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
22	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:51584600-51594600	Strong transcription	Fetal Muscle Leg	muscle
24	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:51585800-51596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:51585800-51596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:51586200-51594000	Weak transcription	Liver	Liver
34	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:51587200-51596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:51588200-51595000	Strong transcription	Brain Germinal Matrix	brain
37	chr12:51588400-51594200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:51588600-51594000	Strong transcription	Brain Cingulate Gyrus	brain
39	chr12:51588800-51595000	Strong transcription	Fetal Brain Female	brain
40	chr12:51589000-51594200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr12:51590200-51594000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr12:51590400-51592800	Strong transcription	Spleen	Spleen
43	chr12:51590600-51593400	Genic enhancers	Adipose Nuclei	Adipose
44	chr12:51590600-51597800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:51590800-51610400	Weak transcription	HSMMtube	muscle
46	chr12:51591000-51592800	Strong transcription	Right Ventricle	heart
47	chr12:51591200-51593000	Strong transcription	Brain Angular Gyrus	brain
48	chr12:51591200-51594000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:51591400-51593000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:51591400-51594200	Strong transcription	Cortex derived primary cultured neurospheres	brain

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