Variant report

Variant	rs11068131
Chromosome Location	chr12:117098376-117098377
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11068129	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7136241	0.86[ASN][1000 genomes]
rs73218430	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794859	chr12:117087267-117103935	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3357908	chr12:117097394-117099942	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117093800-117100600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:117095600-117098600	Enhancers	Fetal Thymus	thymus
3	chr12:117095800-117098400	Enhancers	Fetal Brain Male	brain
4	chr12:117096400-117100200	Weak transcription	Left Ventricle	heart
5	chr12:117096400-117100200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:117096600-117099800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:117096600-117100200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:117096600-117100200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:117096600-117103200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:117096800-117098400	Enhancers	A549	lung
11	chr12:117096800-117098400	Enhancers	HepG2	liver
12	chr12:117096800-117099200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:117096800-117099800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:117096800-117099800	Weak transcription	Fetal Intestine Large	intestine
15	chr12:117096800-117099800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:117096800-117100000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:117096800-117100000	Weak transcription	Brain Substantia Nigra	brain
18	chr12:117096800-117100200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:117096800-117100200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:117096800-117100200	Weak transcription	Right Ventricle	heart
21	chr12:117096800-117100400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:117096800-117100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr12:117096800-117100400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:117096800-117100400	Weak transcription	HSMM	muscle
25	chr12:117096800-117100600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:117097000-117098400	Enhancers	Liver	Liver
27	chr12:117097000-117098400	Enhancers	Hela-S3	cervix
28	chr12:117097000-117098400	Enhancers	NHLF	lung
29	chr12:117097000-117099800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:117097000-117099800	Weak transcription	Fetal Lung	lung
31	chr12:117097000-117100000	Weak transcription	Fetal Brain Female	brain
32	chr12:117097000-117100000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:117097000-117100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:117097000-117100200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr12:117097000-117100200	Weak transcription	HSMMtube	muscle
36	chr12:117097000-117100400	Weak transcription	Esophagus	oesophagus
37	chr12:117097000-117100400	Enhancers	Pancreas	Pancrea
38	chr12:117097200-117099800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:117097800-117098400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:117097800-117098400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:117097800-117099400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:117097800-117100200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:117098000-117098800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:117098000-117099400	Weak transcription	Fetal Muscle Leg	muscle
45	chr12:117098000-117100400	Weak transcription	Thymus	Thymus
46	chr12:117098000-117101200	Enhancers	Lung	lung
47	chr12:117098200-117098400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:117098200-117099200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:117098200-117099400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:117098200-117099600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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