Variant report

Variant	rs56145432
Chromosome Location	chr12:86166483-86166484
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs17345327	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1800832	0.83[EUR][1000 genomes]
rs55694421	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55736533	0.84[EUR][1000 genomes]
rs55758854	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55795518	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55811116	0.86[EUR][1000 genomes]
rs55811700	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs55853578	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs55856700	0.84[EUR][1000 genomes]
rs55899243	0.84[EUR][1000 genomes]
rs55900789	0.87[EUR][1000 genomes]
rs55926212	0.84[EUR][1000 genomes]
rs55966514	0.84[EUR][1000 genomes]
rs56020312	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56080507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56116836	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928894	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61928895	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61928896	0.87[EUR][1000 genomes]
rs61928898	0.87[EUR][1000 genomes]
rs61928900	0.87[EUR][1000 genomes]
rs61928903	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61928904	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61928908	0.87[EUR][1000 genomes]
rs61928913	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61928917	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61928956	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61928957	0.86[EUR][1000 genomes]
rs61928958	0.86[EUR][1000 genomes]
rs61928959	0.86[EUR][1000 genomes]
rs61930016	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930017	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930018	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930028	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930031	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930032	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930033	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930060	0.86[EUR][1000 genomes]
rs61930062	0.86[EUR][1000 genomes]
rs61930069	0.86[EUR][1000 genomes]
rs61930073	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61930080	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61930082	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs61930124	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61930128	0.84[EUR][1000 genomes]
rs61930130	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs61930135	0.84[EUR][1000 genomes]
rs61930576	0.93[EUR][1000 genomes]
rs61930578	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61930583	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930584	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61930594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930595	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61930596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930597	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930642	0.87[EUR][1000 genomes]
rs61930643	0.87[EUR][1000 genomes]
rs61930651	0.87[EUR][1000 genomes]
rs61930653	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs61930863	0.84[EUR][1000 genomes]
rs61930876	0.84[EUR][1000 genomes]
rs61930878	0.83[EUR][1000 genomes]
rs61930880	0.83[EUR][1000 genomes]
rs61930881	0.83[EUR][1000 genomes]
rs61930882	0.83[EUR][1000 genomes]
rs7962310	0.84[EUR][1000 genomes]
rs7973110	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86159400-86168200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:86160600-86169200	Weak transcription	Hela-S3	cervix
3	chr12:86164800-86168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:86164800-86169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:86164800-86169800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:86165000-86168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:86165200-86168800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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