Variant report

Variant	rs6048661
Chromosome Location	chr20:23251415-23251416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11697315	0.86[AFR][1000 genomes]
rs11700168	0.90[AFR][1000 genomes]
rs1541236	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541237	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2185871	0.85[AFR][1000 genomes]
rs2405225	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2405226	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2405227	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424525	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4815188	0.89[AFR][1000 genomes]
rs6036354	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6036359	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048671	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048674	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6083070	0.86[AFR][1000 genomes]
rs6106631	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066734	chr20:23170094-23277628	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv458948	chr20:23234699-23292849	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv585721	chr20:23234699-23292849	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23250000-23251800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr20:23250200-23251600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:23250200-23251800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:23250200-23251800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr20:23250200-23251800	Enhancers	HUVEC	blood vessel
6	chr20:23250200-23251800	Enhancers	Osteobl	bone
7	chr20:23250200-23252000	Enhancers	NH-A	brain
8	chr20:23250400-23251600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:23250400-23251600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:23250400-23251600	Enhancers	Left Ventricle	heart
11	chr20:23250600-23251800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:23250800-23251600	Enhancers	Fetal Heart	heart
13	chr20:23250800-23251800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr20:23251000-23251800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr20:23251000-23253600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr20:23251200-23251600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr20:23251200-23251800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:23251400-23251600	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr20:23251400-23253600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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