Variant report

Variant	rs12714162
Chromosome Location	chr2:86216343-86216344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86203428..86205643-chr2:86215451..86219080,3	K562	blood:
2	chr2:86213970..86216598-chr2:86224690..86226191,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10178120	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10178540	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10181916	0.86[ASN][1000 genomes]
rs10185452	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10189191	0.86[ASN][1000 genomes]
rs10198260	0.81[ASN][1000 genomes]
rs1020095	0.86[ASN][1000 genomes]
rs12714163	0.86[ASN][1000 genomes]
rs12714164	0.81[ASN][1000 genomes]
rs12714165	0.81[ASN][1000 genomes]
rs12994838	0.81[ASN][1000 genomes]
rs12997506	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13004643	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13024123	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1561330	0.85[ASN][1000 genomes]
rs1866245	0.86[ASN][1000 genomes]
rs2278536	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289239	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34478066	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34723687	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3770075	0.81[ASN][1000 genomes]
rs4346389	0.86[ASN][1000 genomes]
rs4480982	0.82[ASN][1000 genomes]
rs4597526	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4832018	0.81[ASN][1000 genomes]
rs4832019	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4832020	0.81[ASN][1000 genomes]
rs4832234	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4832236	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6735014	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6740044	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572386	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs934830	0.86[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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs12714162	LOC90784	Cis_1M	lymphoblastoid	RTeQTL
rs12714162	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs12714162	IMMT	cis	Whole Blood	GTEx
rs12714162	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs12714162	IMMT	cis	Esophagus Muscularis	GTEx
rs12714162	IMMT	cis	Artery Aorta	GTEx

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86204000-86221000	Weak transcription	Right Atrium	heart
2	chr2:86207000-86223400	Weak transcription	Liver	Liver
3	chr2:86207600-86219800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:86213800-86217400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:86214200-86216800	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:86214400-86216400	Enhancers	Adipose Nuclei	Adipose
7	chr2:86214400-86216400	Enhancers	Fetal Stomach	stomach
8	chr2:86214400-86217800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:86214600-86216400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:86214600-86216400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr2:86214600-86218400	Enhancers	K562	blood
12	chr2:86214600-86221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:86214800-86217200	Enhancers	Placenta	Placenta
14	chr2:86215000-86216400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:86215000-86216600	Enhancers	Stomach Smooth Muscle	stomach
16	chr2:86215200-86216400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:86215600-86217800	Enhancers	Psoas Muscle	Psoas
18	chr2:86215600-86221000	Weak transcription	HSMM	muscle
19	chr2:86215800-86219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:86215800-86221000	Weak transcription	Right Ventricle	heart
21	chr2:86215800-86221000	Weak transcription	Spleen	Spleen
22	chr2:86216000-86217200	Weak transcription	Hela-S3	cervix
23	chr2:86216000-86218200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:86216000-86221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:86216000-86221000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:86216000-86221000	Weak transcription	Thymus	Thymus
27	chr2:86216000-86221200	Weak transcription	NHDF-Ad	bronchial
28	chr2:86216000-86222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:86216000-86223400	Weak transcription	Fetal Lung	lung
30	chr2:86216200-86216400	Enhancers	Pancreas	Pancrea
31	chr2:86216200-86217600	Enhancers	A549	lung
32	chr2:86216200-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:86216200-86220800	Weak transcription	Fetal Thymus	thymus
34	chr2:86216200-86221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:86216200-86221000	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:86216200-86221000	Weak transcription	Ovary	ovary
37	chr2:86216200-86221000	Weak transcription	Stomach Mucosa	stomach
38	chr2:86216200-86221200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:86216200-86222800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:86216200-86225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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