Variant report

Variant	rs60943231
Chromosome Location	chr6:48732205-48732206
allele	G/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:14)

rs_ID	r²[population]
rs55691537	1.00[AMR][1000 genomes]
rs55717632	1.00[AMR][1000 genomes]
rs60528836	1.00[AMR][1000 genomes]
rs61204067	1.00[AMR][1000 genomes]
rs61413351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73737116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73737118	1.00[AMR][1000 genomes]
rs73737124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73737129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73737131	1.00[AMR][1000 genomes]
rs73737132	1.00[AMR][1000 genomes]
rs73737137	1.00[AMR][1000 genomes]
rs73737138	1.00[AMR][1000 genomes]
rs7750441	1.00[AMR][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	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv949690	chr6:48595821-49289855	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48730400-48733800	Enhancers	Fetal Lung	lung
2	chr6:48731400-48732400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:48731400-48735800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:48731800-48732400	Enhancers	Fetal Kidney	kidney
5	chr6:48732000-48732800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:48732000-48732800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:48732000-48733600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:48732000-48733800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:48732000-48733800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:48732000-48734200	Enhancers	Hela-S3	cervix
11	chr6:48732000-48734800	Enhancers	NHEK	skin
12	chr6:48732000-48735000	Enhancers	NHLF	lung
13	chr6:48732200-48733000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:48732200-48733600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:48732200-48733800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:48732200-48734200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:48732200-48734800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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