Variant report

Variant	rs68164019
Chromosome Location	chr12:118556900-118556901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17512051	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17878718	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34010869	0.94[EUR][1000 genomes]
rs35384902	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35800761	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35981803	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs71452635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71452636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300114	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7973195	0.81[EUR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542400-118558400	Weak transcription	Brain Angular Gyrus	brain
2	chr12:118542400-118558400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:118542400-118558400	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:118542400-118558400	Weak transcription	Fetal Kidney	kidney
5	chr12:118542400-118558800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:118542400-118559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:118542400-118562400	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:118542400-118569400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:118542600-118558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:118542600-118558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:118542600-118558400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr12:118542600-118558400	Weak transcription	NHEK	skin
13	chr12:118542600-118569400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
16	chr12:118545400-118569600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:118546400-118569400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:118548600-118563400	Weak transcription	Left Ventricle	heart
19	chr12:118551800-118558400	Weak transcription	Brain Substantia Nigra	brain
20	chr12:118552000-118558400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:118552400-118561400	Weak transcription	Fetal Stomach	stomach
22	chr12:118552800-118572800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:118552800-118573400	Weak transcription	Aorta	Aorta
24	chr12:118553000-118573000	Weak transcription	Fetal Brain Female	brain
25	chr12:118553200-118558400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:118553200-118558400	Weak transcription	A549	lung
27	chr12:118553200-118559000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:118553400-118558400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:118553600-118558400	Weak transcription	Fetal Intestine Small	intestine
30	chr12:118554000-118557600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:118554000-118558200	Weak transcription	K562	blood
32	chr12:118554000-118558400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr12:118554000-118558400	Weak transcription	Fetal Intestine Large	intestine
34	chr12:118554000-118558800	Weak transcription	Ovary	ovary
35	chr12:118554000-118559000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:118554200-118557600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:118554200-118557600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:118554200-118558200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:118554200-118558400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:118554200-118558400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:118554200-118558400	Weak transcription	Liver	Liver
42	chr12:118554200-118559000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:118554200-118560400	Weak transcription	Spleen	Spleen
44	chr12:118554200-118561400	Weak transcription	Pancreas	Pancrea
45	chr12:118554400-118557600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:118554400-118557600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:118554400-118557600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr12:118554400-118557600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:118554400-118558200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:118554400-118558200	Weak transcription	Rectal Mucosa Donor 31	rectum

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