Variant report

Variant	rs2004283
Chromosome Location	chr12:50593859-50593860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50593299..50595374-chr12:50677220..50679734,2	K562	blood:

Variant related genes	Relation type
ENSG00000050405	Chromatin interaction
ENSG00000203433	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10219559	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10783342	0.93[AMR][1000 genomes]
rs10783343	0.82[AMR][1000 genomes]
rs1362984	0.92[AMR][1000 genomes]
rs1862042	0.87[AMR][1000 genomes]
rs4459386	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6580732	0.89[AMR][1000 genomes]
rs6580734	0.87[AMR][1000 genomes]
rs7136648	0.90[AMR][1000 genomes]
rs7308692	0.90[AMR][1000 genomes]
rs7309519	0.87[AMR][1000 genomes]
rs7957659	0.91[AMR][1000 genomes]
rs7967954	0.84[AMR][1000 genomes]
rs8181679	0.95[AMR][1000 genomes]
rs9668955	0.93[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2004283	CERS5	cis	Nerve Tibial	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50562200-50597000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:50564400-50600800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:50570000-50601400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50571800-50595800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:50571800-50597000	Weak transcription	Thymus	Thymus
6	chr12:50571800-50597600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:50571800-50614200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:50572200-50614000	Weak transcription	Right Ventricle	heart
9	chr12:50576600-50595000	Weak transcription	A549	lung
10	chr12:50579600-50598000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:50580400-50595800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:50581800-50601000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:50582000-50596000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:50582400-50596200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:50582400-50598200	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:50582400-50600000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:50582600-50597000	Weak transcription	Fetal Brain Female	brain
18	chr12:50582600-50598000	Weak transcription	Psoas Muscle	Psoas
19	chr12:50582600-50598200	Weak transcription	Pancreas	Pancrea
20	chr12:50582800-50614000	Weak transcription	Brain Angular Gyrus	brain
21	chr12:50582800-50614200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:50583000-50594200	Weak transcription	Ovary	ovary
23	chr12:50583000-50614400	Weak transcription	Brain Anterior Caudate	brain
24	chr12:50583400-50598200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:50583400-50600800	Strong transcription	Adipose Nuclei	Adipose
26	chr12:50584600-50594200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:50584600-50595400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:50584600-50595800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:50584600-50596400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:50585200-50604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:50585400-50594000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:50586000-50599600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:50586800-50595800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:50586800-50596000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:50587000-50597600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:50587600-50594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:50587800-50599800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr12:50588000-50599800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:50588400-50594000	Strong transcription	Placenta	Placenta
41	chr12:50588400-50595000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:50588400-50599600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:50588400-50600200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:50588400-50600600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:50588400-50600600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr12:50588600-50594200	Strong transcription	HMEC	breast
47	chr12:50588800-50595000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:50589000-50594000	Strong transcription	NH-A	brain
49	chr12:50589000-50594800	Strong transcription	NHDF-Ad	bronchial
50	chr12:50589000-50595800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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