Variant report

Variant	rs2540215
Chromosome Location	chr2:39867657-39867658
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10177801	0.86[EUR][1000 genomes]
rs10208929	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11124689	0.85[EUR][1000 genomes]
rs12613210	0.85[EUR][1000 genomes]
rs1548870	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548871	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2215956	0.85[EUR][1000 genomes]
rs2716718	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2716719	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2716720	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35791480	0.84[EUR][1000 genomes]
rs6736442	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6748628	0.85[EUR][1000 genomes]
rs7606056	0.88[EUR][1000 genomes]
rs9309041	0.93[AMR][1000 genomes];0.96[EUR][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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:39860000-39869400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:39860400-39868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:39860400-39869200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:39860600-39869000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:39860800-39868000	Weak transcription	HMEC	breast
6	chr2:39861000-39869200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:39863400-39874600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:39864000-39868600	Weak transcription	Adipose Nuclei	Adipose
9	chr2:39866200-39868200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr2:39866200-39868600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:39867000-39868000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:39867200-39867800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:39867200-39869200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:39867200-39870200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:39867200-39870200	Enhancers	NHLF	lung
16	chr2:39867400-39867800	Enhancers	Fetal Heart	heart
17	chr2:39867400-39868200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:39867400-39869000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:39867400-39869200	Weak transcription	Left Ventricle	heart
20	chr2:39867400-39869200	Enhancers	HSMM	muscle
21	chr2:39867400-39869400	Enhancers	Brain Hippocampus Middle	brain
22	chr2:39867400-39869400	Enhancers	HSMMtube	muscle
23	chr2:39867400-39870000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:39867600-39867800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:39867600-39869000	Weak transcription	Brain Angular Gyrus	brain
26	chr2:39867600-39869200	Weak transcription	Right Atrium	heart
27	chr2:39867600-39869200	Weak transcription	Right Ventricle	heart
28	chr2:39867600-39875600	Weak transcription	Psoas Muscle	Psoas

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