Variant report

Variant	rs13418049
Chromosome Location	chr2:67730294-67730295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10170643	0.97[AFR][1000 genomes]
rs10208992	0.80[AFR][1000 genomes]
rs11884974	0.86[AFR][1000 genomes]
rs12988145	0.84[AFR][1000 genomes]
rs13405060	0.97[AFR][1000 genomes]
rs13418759	0.85[AFR][1000 genomes]
rs1521044	0.85[AFR][1000 genomes]
rs4563209	0.85[AFR][1000 genomes]
rs6748393	0.99[AFR][1000 genomes]
rs7573302	0.87[AFR][1000 genomes]
rs7573319	0.84[AFR][1000 genomes]
rs9973780	0.96[AFR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67728200-67742800	Weak transcription	Fetal Lung	lung
2	chr2:67728600-67730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:67729200-67731000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:67729200-67731800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:67729400-67730800	Enhancers	NHLF	lung
6	chr2:67729400-67731200	Enhancers	HUVEC	blood vessel
7	chr2:67729600-67730400	Enhancers	Fetal Stomach	stomach
8	chr2:67729600-67730400	Enhancers	Psoas Muscle	Psoas
9	chr2:67729600-67730600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:67729600-67730600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:67729600-67730800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:67729600-67730800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:67729600-67730800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:67729600-67730800	Enhancers	Adipose Nuclei	Adipose
15	chr2:67729600-67730800	Enhancers	Colon Smooth Muscle	Colon
16	chr2:67729600-67730800	Enhancers	Hela-S3	cervix
17	chr2:67729600-67730800	Enhancers	Osteobl	bone
18	chr2:67729600-67731000	Enhancers	HMEC	breast
19	chr2:67729600-67731200	Enhancers	NHDF-Ad	bronchial
20	chr2:67729600-67731400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:67729800-67730600	Enhancers	Placenta	Placenta
22	chr2:67729800-67730800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:67729800-67730800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:67729800-67730800	Enhancers	Ovary	ovary
25	chr2:67729800-67730800	Enhancers	NHEK	skin
26	chr2:67729800-67731000	Enhancers	NH-A	brain
27	chr2:67730000-67730800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:67730200-67730600	Enhancers	A549	lung

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