Variant report

Variant	rs73412030
Chromosome Location	chr6:33324004-33324005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56957947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57745261	0.86[AFR][1000 genomes]
rs58287097	0.89[AFR][1000 genomes]
rs59142568	0.87[AFR][1000 genomes]
rs59368071	0.87[AFR][1000 genomes]
rs59507163	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60023810	1.00[AMR][1000 genomes]
rs6901048	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6906693	0.87[AFR][1000 genomes]
rs6908509	0.87[AFR][1000 genomes]
rs6920095	0.87[AFR][1000 genomes]
rs73402305	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416054	0.92[AFR][1000 genomes];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	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	nsv969386	chr6:33297665-33325116	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33322000-33332200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:33323000-33326200	Enhancers	Stomach Mucosa	stomach
3	chr6:33324000-33324200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:33324000-33324200	Enhancers	H9 Cell Line	embryonic stem cell
5	chr6:33324000-33324400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:33324000-33324400	Enhancers	Colonic Mucosa	Colon
7	chr6:33324000-33324400	Enhancers	Esophagus	oesophagus
8	chr6:33324000-33324400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr6:33324000-33324600	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:33324000-33324600	Enhancers	Gastric	stomach
11	chr6:33324000-33326400	Enhancers	K562	blood

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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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