Variant report

Variant	rs12714163
Chromosome Location	chr2:86216518-86216519
allele	A/G
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: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10181916	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186005	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10189191	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198260	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1020095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036553	0.81[AMR][1000 genomes]
rs11890514	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11891625	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12470643	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12472588	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12476390	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12714162	0.86[ASN][1000 genomes]
rs12714164	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12714165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000793	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1438153	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1438155	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1561330	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1866242	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1866245	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099617	0.81[AMR][1000 genomes]
rs3937593	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4346389	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480982	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4514874	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4832018	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4832019	0.82[ASN][1000 genomes]
rs4832020	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4832232	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6547651	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547655	0.82[AMR][1000 genomes]
rs6706720	0.93[ASN][1000 genomes]
rs6708525	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737454	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7597264	0.91[ASN][1000 genomes]
rs7599326	0.80[EUR][1000 genomes]
rs7606897	0.81[AMR][1000 genomes]
rs879649	0.81[AMR][1000 genomes]
rs934830	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12714163	IMMT	Cis_1M	lymphoblastoid	RTeQTL
rs12714163	MRPL35	Cis_1M	lymphoblastoid	RTeQTL
rs12714163	IMMT	cis	Whole Blood	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	chr2:86214400-86217800	Enhancers	Fetal Muscle Leg	muscle
7	chr2:86214600-86218400	Enhancers	K562	blood
8	chr2:86214600-86221200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:86214800-86217200	Enhancers	Placenta	Placenta
10	chr2:86215000-86216600	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:86215600-86217800	Enhancers	Psoas Muscle	Psoas
12	chr2:86215600-86221000	Weak transcription	HSMM	muscle
13	chr2:86215800-86219800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:86215800-86221000	Weak transcription	Right Ventricle	heart
15	chr2:86215800-86221000	Weak transcription	Spleen	Spleen
16	chr2:86216000-86217200	Weak transcription	Hela-S3	cervix
17	chr2:86216000-86218200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:86216000-86221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:86216000-86221000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:86216000-86221000	Weak transcription	Thymus	Thymus
21	chr2:86216000-86221200	Weak transcription	NHDF-Ad	bronchial
22	chr2:86216000-86222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:86216000-86223400	Weak transcription	Fetal Lung	lung
24	chr2:86216200-86217600	Enhancers	A549	lung
25	chr2:86216200-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:86216200-86220800	Weak transcription	Fetal Thymus	thymus
27	chr2:86216200-86221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:86216200-86221000	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:86216200-86221000	Weak transcription	Ovary	ovary
30	chr2:86216200-86221000	Weak transcription	Stomach Mucosa	stomach
31	chr2:86216200-86221200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:86216200-86222800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:86216200-86225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:86216400-86219800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:86216400-86219800	Weak transcription	Adipose Nuclei	Adipose
36	chr2:86216400-86220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:86216400-86221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:86216400-86221000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:86216400-86223200	Weak transcription	Pancreas	Pancrea
40	chr2:86216400-86223400	Weak transcription	Fetal Stomach	stomach

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