Variant report

Variant	rs61930135
Chromosome Location	chr12:86241074-86241075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1800832	0.96[EUR][1000 genomes]
rs55644633	0.91[EUR][1000 genomes]
rs55694421	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55746689	0.91[EUR][1000 genomes]
rs55754162	0.90[EUR][1000 genomes]
rs55811116	0.99[EUR][1000 genomes]
rs55811700	0.97[EUR][1000 genomes]
rs55853578	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55856700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55899243	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55900789	0.97[EUR][1000 genomes]
rs55926212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55966514	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56055322	0.90[EUR][1000 genomes]
rs56080507	0.84[EUR][1000 genomes]
rs56145432	0.84[EUR][1000 genomes]
rs56169451	0.92[EUR][1000 genomes]
rs56208754	0.90[EUR][1000 genomes]
rs56225665	0.86[AFR][1000 genomes]
rs56298026	0.92[EUR][1000 genomes]
rs56323012	0.91[EUR][1000 genomes]
rs57434235	0.86[AFR][1000 genomes]
rs58363550	0.86[AFR][1000 genomes]
rs61561443	0.86[AFR][1000 genomes]
rs61928894	0.97[EUR][1000 genomes]
rs61928895	0.97[EUR][1000 genomes]
rs61928896	0.97[EUR][1000 genomes]
rs61928898	0.97[EUR][1000 genomes]
rs61928900	0.97[EUR][1000 genomes]
rs61928903	0.97[EUR][1000 genomes]
rs61928904	0.95[EUR][1000 genomes]
rs61928908	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61928913	0.99[EUR][1000 genomes]
rs61928917	0.99[EUR][1000 genomes]
rs61928918	0.91[EUR][1000 genomes]
rs61928956	0.99[EUR][1000 genomes]
rs61928957	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928958	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928959	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930060	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930061	0.90[EUR][1000 genomes]
rs61930062	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930069	0.99[EUR][1000 genomes]
rs61930070	0.90[EUR][1000 genomes]
rs61930071	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930072	0.82[EUR][1000 genomes]
rs61930073	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930075	0.90[EUR][1000 genomes]
rs61930079	0.90[EUR][1000 genomes]
rs61930080	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930082	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930122	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930124	1.00[EUR][1000 genomes]
rs61930128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930130	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930131	0.91[EUR][1000 genomes]
rs61930136	0.91[EUR][1000 genomes]
rs61930578	0.82[EUR][1000 genomes]
rs61930583	0.81[EUR][1000 genomes]
rs61930594	0.83[EUR][1000 genomes]
rs61930596	0.83[EUR][1000 genomes]
rs61930597	0.84[EUR][1000 genomes]
rs61930598	0.84[EUR][1000 genomes]
rs61930627	0.84[EUR][1000 genomes]
rs61930642	0.97[EUR][1000 genomes]
rs61930643	0.97[EUR][1000 genomes]
rs61930649	0.88[EUR][1000 genomes]
rs61930651	0.97[EUR][1000 genomes]
rs61930652	0.88[EUR][1000 genomes]
rs61930653	0.97[EUR][1000 genomes]
rs61930863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930876	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930878	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930880	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930881	0.99[EUR][1000 genomes]
rs61930882	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930895	0.92[EUR][1000 genomes]
rs7132746	0.88[EUR][1000 genomes]
rs7132883	0.88[AFR][1000 genomes]
rs7301035	0.86[AFR][1000 genomes]
rs7962310	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975072	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
5	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86239000-86242600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:86240200-86241600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr12:86240200-86241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr12:86240200-86242200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:86240400-86241400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:86240400-86241400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr12:86240400-86243800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:86240400-86244000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:86241000-86241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:86241000-86241400	Enhancers	Fetal Heart	heart
11	chr12:86241000-86241600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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