Variant report

Variant	rs12424335
Chromosome Location	chr12:50574763-50574764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10783338	0.80[EUR][1000 genomes]
rs11169302	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17124514	0.85[ASN][1000 genomes]
rs3184122	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34145380	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34245511	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34309034	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7138420	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7138622	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7315690	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7972465	0.80[EUR][1000 genomes]
rs9364	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3392138	chr12:50394642-50645326	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12424335	CERS5	cis	Muscle Skeletal	GTEx
rs12424335	CERS5	cis	Nerve Tibial	GTEx
rs12424335	DIP2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50561600-50575200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:50561800-50574800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:50561800-50574800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:50561800-50575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:50561800-50582600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr12:50561800-50582600	Weak transcription	Stomach Mucosa	stomach
7	chr12:50562000-50576000	Weak transcription	Fetal Heart	heart
8	chr12:50562000-50576400	Weak transcription	A549	lung
9	chr12:50562000-50584800	Weak transcription	K562	blood
10	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:50564400-50586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:50567800-50578800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:50568200-50578200	Strong transcription	Fetal Intestine Large	intestine
15	chr12:50568600-50577800	Strong transcription	NHDF-Ad	bronchial
16	chr12:50568600-50582000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr12:50568800-50581400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr12:50569200-50575800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:50569200-50577000	Strong transcription	Osteobl	bone
20	chr12:50569200-50579000	Strong transcription	NHEK	skin
21	chr12:50569400-50575000	Weak transcription	Hela-S3	cervix
22	chr12:50569400-50575200	Weak transcription	Fetal Kidney	kidney
23	chr12:50569400-50577800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:50569400-50579000	Weak transcription	Fetal Brain Male	brain
25	chr12:50569400-50581400	Weak transcription	Brain Substantia Nigra	brain
26	chr12:50569600-50575000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:50569600-50575600	Strong transcription	HSMMtube	muscle
28	chr12:50569600-50579400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr12:50569800-50575600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:50569800-50576400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:50569800-50577000	Strong transcription	Adipose Nuclei	Adipose
32	chr12:50569800-50577400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:50569800-50577800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:50569800-50578200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:50569800-50578200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:50569800-50578800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:50570000-50575800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:50570000-50575800	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:50570000-50576000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:50570000-50576200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:50570000-50577400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:50570000-50578000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:50570400-50575800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr12:50570400-50592800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:50570600-50575600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:50570600-50576000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:50570600-50576000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:50570600-50582800	Weak transcription	Small Intestine	intestine
50	chr12:50570800-50576000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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