Variant report

Variant	rs12278651
Chromosome Location	chr11:46725533-46725534
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	chr11:46725512-46725565	K562	blood:	n/a	n/a
2	POLR2A	chr11:46724997-46725646	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ARHGAP1	TF binding region
ENSG00000180210	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11038916	1.00[AMR][1000 genomes]
rs11038934	1.00[AMR][1000 genomes]
rs11038967	0.83[AMR][1000 genomes]
rs11038992	0.81[AFR][1000 genomes]
rs11819818	1.00[AMR][1000 genomes]
rs12276664	0.83[AMR][1000 genomes]
rs12278517	1.00[AMR][1000 genomes]
rs12285637	0.83[AMR][1000 genomes]
rs3136452	1.00[AMR][1000 genomes]
rs3136455	1.00[AMR][1000 genomes]
rs3136483	1.00[AMR][1000 genomes]
rs7113194	0.83[AMR][1000 genomes]
rs7952678	1.00[AMR][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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723400-46727200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46723600-46726200	Weak transcription	Small Intestine	intestine
3	chr11:46723600-46728800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:46723600-46729600	Strong transcription	NHEK	skin
5	chr11:46723600-46730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:46723600-46730200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
8	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:46723800-46729200	Strong transcription	Placenta	Placenta
10	chr11:46723800-46729800	Strong transcription	Fetal Lung	lung
11	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
12	chr11:46724000-46727800	Strong transcription	HUVEC	blood vessel
13	chr11:46724000-46728400	Strong transcription	HMEC	breast
14	chr11:46724000-46728600	Strong transcription	NHDF-Ad	bronchial
15	chr11:46724000-46728800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:46724000-46728800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:46724000-46728800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:46724000-46729000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:46724000-46729000	Strong transcription	HSMMtube	muscle
20	chr11:46724000-46729000	Strong transcription	NH-A	brain
21	chr11:46724000-46729200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:46724000-46729200	Strong transcription	Thymus	Thymus
23	chr11:46724000-46729200	Strong transcription	K562	blood
24	chr11:46724000-46729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr11:46724000-46729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:46724000-46729600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:46724000-46730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:46724000-46730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:46724000-46730200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:46724200-46725600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:46724200-46726000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:46724200-46726400	Strong transcription	HSMM	muscle
34	chr11:46724200-46727200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:46724200-46727600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:46724200-46727800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:46724200-46728800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr11:46724200-46728800	Strong transcription	Left Ventricle	heart
39	chr11:46724200-46729200	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr11:46724200-46729600	Strong transcription	NHLF	lung
41	chr11:46724200-46730000	Strong transcription	Adipose Nuclei	Adipose
42	chr11:46724400-46726600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:46724400-46727800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:46724400-46728400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:46724400-46728400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr11:46724400-46729000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:46724400-46729200	Strong transcription	Fetal Intestine Large	intestine
48	chr11:46724400-46729400	Strong transcription	Esophagus	oesophagus
49	chr11:46724400-46729600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:46724400-46729600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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