Variant report

Variant	rs12239998
Chromosome Location	chr1:72722092-72722093
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10159193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1084442	1.00[AMR][1000 genomes]
rs13373981	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375319	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376275	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13376591	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1599333	1.00[AMR][1000 genomes]
rs1664370	1.00[AMR][1000 genomes]
rs17092521	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17092660	1.00[AMR][1000 genomes]
rs17131762	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2199337	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590946	1.00[AMR][1000 genomes]
rs2613472	1.00[AMR][1000 genomes]
rs2613474	1.00[AMR][1000 genomes]
rs2815769	1.00[AMR][1000 genomes]
rs2815770	1.00[AMR][1000 genomes]
rs28544516	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs290694	1.00[AMR][1000 genomes]
rs290699	1.00[AMR][1000 genomes]
rs290700	1.00[AMR][1000 genomes]
rs482335	1.00[AMR][1000 genomes]
rs511331	1.00[AMR][1000 genomes]
rs727623	1.00[AMR][1000 genomes]
rs782217	1.00[AMR][1000 genomes]
rs782220	1.00[AMR][1000 genomes]
rs782241	1.00[AMR][1000 genomes]
rs782247	1.00[AMR][1000 genomes]
rs782248	1.00[AMR][1000 genomes]
rs782249	1.00[AMR][1000 genomes]
rs782250	1.00[AMR][1000 genomes]
rs782251	1.00[AMR][1000 genomes]
rs782253	1.00[AMR][1000 genomes]
rs782254	1.00[AMR][1000 genomes]
rs782255	1.00[AMR][1000 genomes]
rs782256	1.00[AMR][1000 genomes]
rs782258	1.00[AMR][1000 genomes]
rs796699	1.00[AMR][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	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1013250	chr1:72603540-72762582	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv830192	chr1:72616562-72806118	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1014832	chr1:72642420-72823477	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv534997	chr1:72642420-72823477	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv546486	chr1:72654730-72729142	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1835472	chr1:72720026-72820015	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72712200-72727400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:72713800-72735600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72716000-72726200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:72719400-72727400	Weak transcription	Stomach Smooth Muscle	stomach

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