Variant report

Variant	rs11112856
Chromosome Location	chr12:106478557-106478558
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	MAX	chr12:106477662-106478558	A549	lung:	n/a	n/a
2	REST	chr12:106477176-106478581	H1-neurons	neurons:	n/a	chr12:106477875-106477888
3	MAX	chr12:106477408-106478733	A549	lung:	n/a	n/a
4	EP300	chr12:106477549-106478566	A549	lung:	n/a	chr12:106477761-106477775
5	POLR2A	chr12:106477691-106478578	PANC-1	pancreas:	n/a	n/a
6	TCF12	chr12:106477530-106478710	A549	lung:	n/a	chr12:106478434-106478441
7	EP300	chr12:106477571-106478593	ECC-1	luminal epithelium:	n/a	chr12:106477761-106477775
8	TCF12	chr12:106477566-106478578	ECC-1	luminal epithelium:	n/a	chr12:106478434-106478441

Variant related genes	Relation type
NUAK1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11112857	0.92[CEU][hapmap];0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs11112872	1.00[YRI][hapmap]
rs12306141	1.00[ASN][1000 genomes]
rs12815216	1.00[ASN][1000 genomes]
rs12826780	1.00[ASN][1000 genomes]
rs36103235	1.00[ASN][1000 genomes]
rs7133815	1.00[ASN][1000 genomes]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112856	FAM154B	trans	lymphoblastoid	seeQTL

Chromatin state (count:85 , 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	chr12:106462400-106482600	Weak transcription	Esophagus	oesophagus
4	chr12:106465200-106487000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:106469000-106490200	Weak transcription	Gastric	stomach
6	chr12:106469000-106499400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:106472400-106479400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:106472800-106480400	Weak transcription	Pancreas	Pancrea
9	chr12:106472800-106480600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:106473000-106482000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:106474600-106480000	Enhancers	NHDF-Ad	bronchial
12	chr12:106474600-106484600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:106474800-106479800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:106475000-106482400	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:106475200-106478600	Genic enhancers	Left Ventricle	heart
16	chr12:106475400-106482200	Weak transcription	Psoas Muscle	Psoas
17	chr12:106475800-106484200	Weak transcription	Hela-S3	cervix
18	chr12:106476200-106479400	Enhancers	Fetal Heart	heart
19	chr12:106476400-106479400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:106476600-106483200	Weak transcription	Fetal Brain Male	brain
21	chr12:106476800-106478600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:106476800-106478600	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:106477000-106478600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:106477000-106480400	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:106477000-106484400	Weak transcription	Lung	lung
26	chr12:106477000-106487200	Weak transcription	HepG2	liver
27	chr12:106477400-106478600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:106477400-106478600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:106477400-106478600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr12:106477400-106478800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr12:106477400-106478800	Enhancers	Fetal Kidney	kidney
32	chr12:106477400-106479000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:106477400-106479200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:106477400-106479200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr12:106477600-106478600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:106477600-106478600	Enhancers	HMEC	breast
37	chr12:106477600-106478800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:106477600-106478800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr12:106477600-106479000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:106477600-106479000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:106477600-106479200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:106477600-106492200	Weak transcription	Fetal Brain Female	brain
43	chr12:106477800-106478600	Enhancers	Ovary	ovary
44	chr12:106477800-106478800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr12:106477800-106478800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr12:106477800-106479000	Enhancers	Fetal Stomach	stomach
47	chr12:106477800-106479200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr12:106477800-106479200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:106477800-106479400	Transcr. at gene 5' and 3'	A549	lung
50	chr12:106477800-106479400	Genic enhancers	HSMMtube	muscle

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