Variant report

Variant	rs12207480
Chromosome Location	chr6:74003384-74003385
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:73927031-73938730..6:74000304-74012200	K562	blood:
2	6:74000304-74012200..6:74062967-74076046	GM12878	blood:
3	6:74000304-74012200..6:74160392-74184826	K562	blood:
4	6:74000304-74012200..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
5	6:74000304-74012200..6:74099986-74112890	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000224221	Chromatin interaction
ENSG00000256980	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000207023	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10455272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943084	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943085	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943088	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11963438	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190274	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199709	1.00[ASN][1000 genomes]
rs12199821	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203786	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12208950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12213765	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12216244	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12529651	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883518	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883564	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16883571	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35542640	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45491600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55810380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159527	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411447	0.93[EUR][1000 genomes]
rs62411451	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438240	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62438242	0.81[EUR][1000 genomes]
rs62438243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438245	1.00[ASN][1000 genomes]
rs62440564	0.83[ASN][1000 genomes]
rs62440565	0.83[ASN][1000 genomes]
rs72947904	1.00[ASN][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12207480	EIF3EP1	cis	Skin Sun Exposed Lower leg	GTEx
rs12207480	C6orf148	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:73973600-74018600	Weak transcription	A549	lung
3	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:73974000-74009000	Weak transcription	HSMM	muscle
5	chr6:73974000-74018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:73974400-74008800	Weak transcription	NH-A	brain
7	chr6:73974400-74009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:73974600-74008600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:73974800-74008600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:73977400-74008800	Weak transcription	Fetal Brain Male	brain
11	chr6:73979200-74004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:73983800-74018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:73984400-74018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:73984800-74004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:73984800-74008600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:73985200-74004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:73985200-74008800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr6:73985400-74009000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:73985600-74004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:73985600-74008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:73985600-74008800	Weak transcription	Thymus	Thymus
22	chr6:73985800-74006800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr6:73985800-74008800	Weak transcription	Ovary	ovary
24	chr6:73986400-74008600	Weak transcription	Fetal Brain Female	brain
25	chr6:73989000-74017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:73989800-74008800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:73990000-74003800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:73992400-74013200	Weak transcription	GM12878-XiMat	blood
29	chr6:73994200-74018600	Weak transcription	Stomach Mucosa	stomach
30	chr6:73996000-74008600	Weak transcription	Fetal Heart	heart
31	chr6:73996000-74008600	Weak transcription	Fetal Kidney	kidney
32	chr6:73996000-74009800	Weak transcription	K562	blood
33	chr6:73996000-74015800	Weak transcription	Hela-S3	cervix
34	chr6:73998200-74004800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:73999000-74008600	Weak transcription	Brain Substantia Nigra	brain
36	chr6:74000600-74007800	Weak transcription	HMEC	breast
37	chr6:74000600-74008800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:74000800-74008400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:74000800-74009000	Weak transcription	Aorta	Aorta
40	chr6:74001000-74004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr6:74001000-74004800	Weak transcription	Brain Anterior Caudate	brain
42	chr6:74001000-74008200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:74001000-74008600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:74001000-74008800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:74001000-74008800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:74001000-74008800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:74001000-74008800	Weak transcription	Fetal Lung	lung
48	chr6:74001000-74009000	Weak transcription	Osteobl	bone
49	chr6:74001000-74017200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:74001400-74004800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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