Variant report

Variant	rs73114786
Chromosome Location	chr1:239592728-239592729
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10159107	1.00[EUR][1000 genomes]
rs10159110	1.00[EUR][1000 genomes]
rs10159111	1.00[EUR][1000 genomes]
rs1338911	1.00[EUR][1000 genomes]
rs1338912	1.00[EUR][1000 genomes]
rs1338913	1.00[EUR][1000 genomes]
rs16838446	1.00[EUR][1000 genomes]
rs56286075	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59092744	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61485588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6671073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677208	1.00[EUR][1000 genomes]
rs6699693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114796	1.00[EUR][1000 genomes]
rs73116726	1.00[EUR][1000 genomes]
rs73116729	1.00[EUR][1000 genomes]
rs73122644	1.00[EUR][1000 genomes]
rs74149063	1.00[EUR][1000 genomes]
rs74149065	1.00[EUR][1000 genomes]
rs74149066	1.00[EUR][1000 genomes]
rs74149069	1.00[EUR][1000 genomes]
rs74149070	1.00[EUR][1000 genomes]
rs9970217	1.00[EUR][1000 genomes]
rs9970229	1.00[EUR][1000 genomes]
rs9970997	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1006640	chr1:239290853-239658788	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535358	chr1:239290853-239658788	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3373454	chr1:239495349-239670615	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv873350	chr1:239498915-239648140	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv833037	chr1:239522168-239699412	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3584614	chr1:239590223-239601163	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239588200-239595000	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:239591600-239592800	Weak transcription	Fetal Intestine Small	intestine
3	chr1:239591600-239595200	Weak transcription	Pancreas	Pancrea
4	chr1:239592600-239593200	Enhancers	Fetal Brain Male	brain
5	chr1:239592600-239594400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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