Variant report

Variant	rs12815053
Chromosome Location	chr12:122759093-122759094
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122751850..122754717-chr12:122758222..122759740,2	K562	blood:
2	chr12:122758210..122760067-chr12:122764492..122767396,2	K562	blood:
3	chr12:122757585..122760067-chr12:122763732..122767396,3	K562	blood:
4	chr12:122758606..122760143-chr12:122764429..122767339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12425684	0.81[EUR][1000 genomes]
rs12809220	0.86[EUR][1000 genomes]
rs12811503	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12814923	0.82[EUR][1000 genomes]
rs12822121	0.83[EUR][1000 genomes]
rs12825008	0.86[EUR][1000 genomes]
rs12825149	0.81[EUR][1000 genomes]
rs12825279	0.86[EUR][1000 genomes]
rs2271409	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2277333	0.83[EUR][1000 genomes]
rs34383196	0.83[EUR][1000 genomes]
rs35030971	0.82[EUR][1000 genomes]
rs35772530	0.84[EUR][1000 genomes]
rs35963777	0.81[EUR][1000 genomes]
rs4758649	0.82[EUR][1000 genomes]
rs6488906	0.82[EUR][1000 genomes]
rs6488909	0.82[EUR][1000 genomes]
rs7388	0.81[AMR][1000 genomes];0.87[EUR][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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12815053	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:122751800-122760400	Weak transcription	Pancreas	Pancrea
3	chr12:122751800-122760800	Weak transcription	Aorta	Aorta
4	chr12:122751800-122762800	Weak transcription	Psoas Muscle	Psoas
5	chr12:122751800-122762800	Weak transcription	Small Intestine	intestine
6	chr12:122752000-122761400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:122752000-122761400	Weak transcription	HepG2	liver
8	chr12:122752000-122762600	Weak transcription	Fetal Lung	lung
9	chr12:122752000-122762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:122752000-122762800	Weak transcription	K562	blood
11	chr12:122752000-122763000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:122752000-122764000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:122752000-122764000	Weak transcription	Fetal Heart	heart
14	chr12:122752000-122764200	Weak transcription	Stomach Mucosa	stomach
15	chr12:122752000-122766400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:122752000-122780000	Weak transcription	Fetal Kidney	kidney
17	chr12:122752000-122800600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:122752000-122802600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:122752200-122760000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr12:122752200-122766800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr12:122752400-122762800	Weak transcription	Fetal Brain Male	brain
22	chr12:122752400-122810400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr12:122752600-122765200	Weak transcription	Hela-S3	cervix
24	chr12:122754400-122759400	Strong transcription	Placenta	Placenta
25	chr12:122754600-122822400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:122755200-122759200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:122755200-122764000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:122755400-122759200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:122755400-122759200	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:122755400-122759200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr12:122755400-122764800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:122755400-122765800	Strong transcription	Adipose Nuclei	Adipose
33	chr12:122755600-122759200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:122755800-122760000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:122755800-122768200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:122756000-122766200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:122756200-122759200	Strong transcription	Dnd41	blood
38	chr12:122756200-122760000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:122756200-122766800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:122756600-122766000	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:122756800-122759200	Strong transcription	NHEK	skin
42	chr12:122757000-122763600	Strong transcription	Fetal Intestine Small	intestine
43	chr12:122757200-122763000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:122757200-122766200	Strong transcription	Fetal Muscle Trunk	muscle
45	chr12:122757600-122760000	Weak transcription	Esophagus	oesophagus
46	chr12:122757600-122760600	Weak transcription	NHLF	lung
47	chr12:122757600-122762200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr12:122757600-122762800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:122757600-122780200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:122757800-122762200	Weak transcription	Primary B cells from peripheral blood	blood

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