Variant report

Variant	rs11112857
Chromosome Location	chr12:106479252-106479253
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	STAT3	chr12:106478983-106479400	GM12878	blood:	n/a	n/a
2	BCL11A	chr12:106478915-106479326	GM12878	blood:	n/a	n/a
3	JUND	chr12:106478944-106479750	GM12878	blood:	n/a	chr12:106479314-106479323 chr12:106479400-106479411
4	NFIC	chr12:106478855-106479332	GM12878	blood:	n/a	n/a
5	BATF	chr12:106478929-106479492	GM12878	blood:	n/a	chr12:106479318-106479327
6	BHLHE40	chr12:106478975-106479420	GM12878	blood:	n/a	n/a
7	ATF2	chr12:106478908-106479368	GM12878	blood:	n/a	n/a
8	RUNX3	chr12:106478893-106479317	GM12878	blood:	n/a	n/a
9	BATF	chr12:106478953-106479255	GM12878	blood:	n/a	n/a
10	FOXM1	chr12:106478894-106479319	GM12878	blood:	n/a	n/a
11	MXI1	chr12:106479015-106479289	GM12878	blood:	n/a	n/a
12	EP300	chr12:106479031-106479291	GM12878	blood:	n/a	n/a
13	TBL1XR1	chr12:106478971-106479268	GM12878	blood:	n/a	n/a
14	MEF2C	chr12:106478931-106479315	GM12878	blood:	n/a	n/a
15	IRF4	chr12:106478824-106479436	GM12878	blood:	n/a	n/a
16	EBF1	chr12:106479027-106479279	GM12878	blood:	n/a	n/a
17	EP300	chr12:106478951-106479327	GM12878	blood:	n/a	n/a
18	STAT1	chr12:106479146-106479362	GM12878	blood:	n/a	n/a
19	EP300	chr12:106478978-106479325	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NUAK1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11112856	0.92[CEU][hapmap];0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs12306141	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815216	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826780	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36103235	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133815	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];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

No data

Chromatin state (count:81 , 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	chr12:106475400-106482200	Weak transcription	Psoas Muscle	Psoas
16	chr12:106475800-106484200	Weak transcription	Hela-S3	cervix
17	chr12:106476200-106479400	Enhancers	Fetal Heart	heart
18	chr12:106476400-106479400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:106476600-106483200	Weak transcription	Fetal Brain Male	brain
20	chr12:106477000-106480400	Enhancers	Brain Cingulate Gyrus	brain
21	chr12:106477000-106484400	Weak transcription	Lung	lung
22	chr12:106477000-106487200	Weak transcription	HepG2	liver
23	chr12:106477600-106492200	Weak transcription	Fetal Brain Female	brain
24	chr12:106477800-106479400	Transcr. at gene 5' and 3'	A549	lung
25	chr12:106477800-106479400	Genic enhancers	HSMMtube	muscle
26	chr12:106477800-106479800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:106477800-106484400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:106478000-106479800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:106478200-106480200	Weak transcription	HUVEC	blood vessel
30	chr12:106478200-106480800	Weak transcription	Liver	Liver
31	chr12:106478200-106481600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:106478200-106482400	Weak transcription	Adipose Nuclei	Adipose
33	chr12:106478400-106479400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr12:106478400-106479400	Enhancers	Osteobl	bone
35	chr12:106478400-106479600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:106478400-106479600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:106478400-106479800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:106478400-106479800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:106478400-106479800	Enhancers	Brain Anterior Caudate	brain
40	chr12:106478400-106479800	Genic enhancers	HSMM	muscle
41	chr12:106478400-106480000	Enhancers	Brain Substantia Nigra	brain
42	chr12:106478400-106480600	Weak transcription	Right Atrium	heart
43	chr12:106478400-106480600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:106478400-106481600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:106478400-106482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:106478400-106482600	Weak transcription	Aorta	Aorta
47	chr12:106478400-106483000	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:106478400-106485800	Enhancers	Brain Hippocampus Middle	brain
49	chr12:106478400-106488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:106478400-106491600	Weak transcription	H9 Cell Line	embryonic stem cell

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