Variant report

Variant	rs62182417
Chromosome Location	chr2:189997838-189997839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:189997813-189998065	IMR90	lung:	n/a	chr2:189997902-189997913
2	CEBPB	chr2:189997810-189998005	H1-hESC	embryonic stem cell:	n/a	chr2:189997902-189997913

Variant related genes	Relation type
MIR3129	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10165127	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10165257	0.83[EUR][1000 genomes]
rs1016622	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10931401	0.83[EUR][1000 genomes]
rs11901914	0.86[EUR][1000 genomes]
rs12618316	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005714	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005834	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13006065	0.83[EUR][1000 genomes]
rs13013089	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13019651	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13020999	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13024858	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13030984	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1464135	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1515864	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1515869	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1949327	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2138373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36019389	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4417749	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667263	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667266	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4667268	0.86[EUR][1000 genomes]
rs6434324	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6434325	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741804	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6749559	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6752781	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7560973	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7561002	0.81[AFR][1000 genomes]
rs7593860	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7606337	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9288163	0.91[EUR][1000 genomes];0.93[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62182417	AC013439.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:189981200-189998000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
5	chr2:189982400-190005800	Weak transcription	Fetal Kidney	kidney
6	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:189985400-190000200	Weak transcription	Fetal Lung	lung
8	chr2:189986000-190008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:189993000-189998200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189993200-189999800	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:189993800-190007400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:189993800-190017000	Weak transcription	Ovary	ovary
13	chr2:189994200-190010600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:189994400-189998200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:189995000-189998000	Weak transcription	A549	lung
16	chr2:189995400-190009000	Weak transcription	Adipose Nuclei	Adipose
17	chr2:189996000-190000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:189996000-190008800	Weak transcription	NHLF	lung
19	chr2:189996200-189998200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:189996200-189998200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:189996400-189998000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:189996400-189998200	Weak transcription	NHDF-Ad	bronchial
23	chr2:189997000-189998200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:189997000-190008000	Weak transcription	HSMMtube	muscle
25	chr2:189997000-190008600	Weak transcription	NH-A	brain
26	chr2:189997200-189998000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:189997400-190002000	Weak transcription	HSMM	muscle
28	chr2:189997800-189998600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:189997800-189998600	Strong transcription	Osteobl	bone

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