Variant report

Variant	rs789742
Chromosome Location	chr12:64523601-64523602
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10459258	1.00[AMR][1000 genomes]
rs10459259	1.00[AMR][1000 genomes]
rs10735920	1.00[AMR][1000 genomes]
rs10735921	1.00[AMR][1000 genomes]
rs10735922	1.00[AMR][1000 genomes]
rs10878133	1.00[AMR][1000 genomes]
rs10878145	1.00[AMR][1000 genomes]
rs1162970	1.00[AMR][1000 genomes]
rs11835078	1.00[AMR][1000 genomes]
rs1436361	1.00[AMR][1000 genomes]
rs1469862	1.00[AMR][1000 genomes]
rs1657051	1.00[AMR][1000 genomes]
rs1708200	1.00[AMR][1000 genomes]
rs1865796	1.00[AMR][1000 genomes]
rs1898221	1.00[AMR][1000 genomes]
rs2082951	1.00[AMR][1000 genomes]
rs2335390	1.00[AMR][1000 genomes]
rs2453509	1.00[AMR][1000 genomes]
rs2575290	1.00[AMR][1000 genomes]
rs2575294	1.00[AMR][1000 genomes]
rs35744300	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4237925	1.00[AMR][1000 genomes]
rs4522269	1.00[AMR][1000 genomes]
rs4572232	1.00[AMR][1000 genomes]
rs4763153	1.00[AMR][1000 genomes]
rs4763156	1.00[AMR][1000 genomes]
rs6421211	1.00[AMR][1000 genomes]
rs6581542	1.00[AMR][1000 genomes]
rs696658	1.00[AMR][1000 genomes]
rs696659	1.00[AMR][1000 genomes]
rs699629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699630	1.00[AMR][1000 genomes]
rs699631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs699632	1.00[AMR][1000 genomes]
rs699635	1.00[AMR][1000 genomes]
rs699636	1.00[AMR][1000 genomes]
rs699637	1.00[AMR][1000 genomes]
rs699638	1.00[AMR][1000 genomes]
rs7488560	1.00[AMR][1000 genomes]
rs789723	1.00[AMR][1000 genomes]
rs789726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789730	1.00[AMR][1000 genomes]
rs789738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789747	1.00[AMR][1000 genomes]
rs790013	1.00[AMR][1000 genomes]
rs790014	1.00[AMR][1000 genomes]
rs790017	1.00[AMR][1000 genomes]
rs7955105	1.00[AMR][1000 genomes]
rs7976524	1.00[AMR][1000 genomes]
rs809322	1.00[AMR][1000 genomes]
rs813156	1.00[AMR][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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64487400-64526600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:64498400-64538400	Weak transcription	Small Intestine	intestine
3	chr12:64506600-64527000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:64506800-64527200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:64510600-64527200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:64511000-64530200	Weak transcription	Right Atrium	heart
7	chr12:64511200-64539400	Weak transcription	HepG2	liver
8	chr12:64514800-64535800	Weak transcription	Hela-S3	cervix
9	chr12:64518000-64527200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:64518400-64525400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:64519200-64523800	Weak transcription	Placenta	Placenta
12	chr12:64519200-64527200	Strong transcription	A549	lung
13	chr12:64519600-64524400	Strong transcription	HSMMtube	muscle
14	chr12:64519600-64525600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:64519600-64525800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr12:64519600-64526600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:64519800-64525000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr12:64519800-64525200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:64519800-64529200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:64520000-64526000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:64520000-64526400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:64520000-64526600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:64520000-64527200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:64520200-64524000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:64520200-64527200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:64520600-64525400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:64520600-64527200	Strong transcription	Fetal Brain Female	brain
28	chr12:64520800-64525200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:64520800-64526800	Strong transcription	Adipose Nuclei	Adipose
30	chr12:64520800-64527000	Strong transcription	Brain Anterior Caudate	brain
31	chr12:64520800-64527200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:64521000-64527400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:64521200-64525000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:64521200-64525200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:64521400-64524400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:64521400-64524600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:64521400-64524800	Strong transcription	Fetal Muscle Leg	muscle
38	chr12:64521400-64525000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:64521400-64525000	Strong transcription	Left Ventricle	heart
40	chr12:64521400-64525200	Strong transcription	Duodenum Mucosa	Duodenum
41	chr12:64521400-64525200	Strong transcription	Ovary	ovary
42	chr12:64521400-64525400	Strong transcription	Fetal Lung	lung
43	chr12:64521400-64525600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:64521400-64525800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:64521400-64526000	Strong transcription	Fetal Stomach	stomach
46	chr12:64521400-64526800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:64521400-64530800	Strong transcription	Fetal Intestine Large	intestine
48	chr12:64521800-64526800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:64522000-64523800	Weak transcription	Brain Germinal Matrix	brain
50	chr12:64522000-64523800	Weak transcription	Esophagus	oesophagus

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