Variant report

Variant	rs12579815
Chromosome Location	chr12:48547875-48547876
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	POLR2A	chr12:48547069-48547907	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48545842..48549323-chr12:48549562..48552963,3	MCF-7	breast:

Variant related genes	Relation type
ASB8	TF binding region
ENSG00000177981	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11168351	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12580309	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12581263	1.00[EUR][1000 genomes]
rs12819124	1.00[JPT][hapmap]
rs17122615	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17122617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1814231	1.00[EUR][1000 genomes]
rs41272785	1.00[EUR][1000 genomes]
rs41369448	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs60275794	1.00[EUR][1000 genomes]
rs915920	0.85[CHB][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv8971	chr12:48536526-48758501	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv34439	chr12:48541757-48779562	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv2757502	chr12:48547128-48779562	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48531200-48548000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:48531400-48548000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:48532200-48548400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:48533600-48548400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:48534200-48548000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:48536400-48548200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:48536800-48550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:48537800-48550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:48538400-48550200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:48538600-48548600	Strong transcription	Thymus	Thymus
11	chr12:48540400-48550000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:48540400-48550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:48542200-48550400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:48543400-48548000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:48543800-48550400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:48544000-48550000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:48544000-48550200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:48544000-48550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:48544000-48550400	Weak transcription	Esophagus	oesophagus
20	chr12:48544000-48550600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:48544200-48550400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:48544400-48550000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:48544400-48550400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:48544600-48550400	Weak transcription	Stomach Mucosa	stomach
25	chr12:48544800-48550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:48545000-48550200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:48545200-48550000	Weak transcription	HUVEC	blood vessel
28	chr12:48545200-48550200	Weak transcription	Small Intestine	intestine
29	chr12:48545400-48550000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:48545400-48550200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:48545400-48550200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:48545400-48550200	Weak transcription	Fetal Heart	heart
33	chr12:48545600-48549600	Weak transcription	Pancreas	Pancrea
34	chr12:48545600-48550000	Weak transcription	Fetal Brain Male	brain
35	chr12:48545600-48550200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:48545600-48550200	Weak transcription	NHEK	skin
37	chr12:48545600-48550200	Weak transcription	NHLF	lung
38	chr12:48545600-48550400	Weak transcription	Aorta	Aorta
39	chr12:48545800-48550200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:48546200-48550000	Weak transcription	A549	lung
41	chr12:48546200-48550200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:48546200-48550200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr12:48546200-48550200	Weak transcription	Right Ventricle	heart
44	chr12:48546200-48550600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:48546400-48550000	Weak transcription	HepG2	liver
46	chr12:48546600-48548000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:48546600-48549600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr12:48546800-48550400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:48547000-48550200	Weak transcription	Fetal Kidney	kidney
50	chr12:48547200-48550000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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