Variant report

Variant	rs11068830
Chromosome Location	chr12:118550126-118550127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10850960	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10850961	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068826	0.95[ASN][1000 genomes]
rs11068836	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11830698	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3847650	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3927167	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3956808	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4590911	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767664	0.85[ASN][1000 genomes]
rs6490167	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6490168	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71450262	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7314781	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7976200	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7978165	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7980628	0.82[EUR][1000 genomes];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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542400-118552600	Weak transcription	Fetal Brain Female	brain
2	chr12:118542400-118552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:118542400-118553600	Weak transcription	Pancreas	Pancrea
4	chr12:118542400-118553800	Weak transcription	Liver	Liver
5	chr12:118542400-118554600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:118542400-118556600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:118542400-118558400	Weak transcription	Brain Angular Gyrus	brain
8	chr12:118542400-118558400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:118542400-118558400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:118542400-118558400	Weak transcription	Fetal Kidney	kidney
11	chr12:118542400-118558800	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:118542400-118559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:118542400-118562400	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:118542400-118569400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:118542600-118552600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:118542600-118552600	Weak transcription	A549	lung
17	chr12:118542600-118552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:118542600-118553600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:118542600-118558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:118542600-118558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:118542600-118558400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:118542600-118558400	Weak transcription	NHEK	skin
23	chr12:118542600-118569400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
26	chr12:118545400-118552400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:118545400-118569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:118546400-118552400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr12:118546400-118552600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr12:118546400-118569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:118548600-118563400	Weak transcription	Left Ventricle	heart
32	chr12:118549800-118552600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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