Variant report

Variant	rs61930651
Chromosome Location	chr12:86177646-86177647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1800832	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55644633	0.89[EUR][1000 genomes]
rs55694421	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55736533	0.97[EUR][1000 genomes]
rs55746689	0.89[EUR][1000 genomes]
rs55754162	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55811116	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55811700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55853578	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55856700	0.97[EUR][1000 genomes]
rs55899243	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55900789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55926212	0.97[EUR][1000 genomes]
rs55966514	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56055322	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56080507	0.87[EUR][1000 genomes]
rs56145432	0.87[EUR][1000 genomes]
rs56169451	0.90[EUR][1000 genomes]
rs56208754	0.90[EUR][1000 genomes]
rs56298026	0.90[EUR][1000 genomes]
rs56323012	0.89[EUR][1000 genomes]
rs61928894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928896	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928898	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928903	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928904	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61928908	1.00[EUR][1000 genomes]
rs61928913	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928917	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928918	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61928956	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928957	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928958	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61928959	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930060	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930061	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61930062	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930069	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930070	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61930071	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930072	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930073	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930075	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61930079	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61930080	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930082	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61930122	0.88[EUR][1000 genomes]
rs61930124	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930128	0.97[EUR][1000 genomes]
rs61930130	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930131	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61930135	0.97[EUR][1000 genomes]
rs61930136	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61930576	0.81[EUR][1000 genomes]
rs61930578	0.84[EUR][1000 genomes]
rs61930583	0.83[EUR][1000 genomes]
rs61930594	0.86[EUR][1000 genomes]
rs61930596	0.86[EUR][1000 genomes]
rs61930597	0.87[EUR][1000 genomes]
rs61930598	0.87[EUR][1000 genomes]
rs61930627	0.87[EUR][1000 genomes]
rs61930642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930649	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930652	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61930653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930863	0.97[EUR][1000 genomes]
rs61930876	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930878	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930880	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930881	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930882	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930895	0.90[EUR][1000 genomes]
rs7132746	0.86[EUR][1000 genomes]
rs7962310	0.97[EUR][1000 genomes]
rs7973110	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86170200-86179200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:86173600-86177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:86174000-86177800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:86174000-86178000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:86176400-86178400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:86176400-86179000	Enhancers	NHEK	skin
7	chr12:86176600-86178400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:86176600-86178800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:86176600-86179200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:86176800-86178000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:86176800-86178000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr12:86176800-86179200	Weak transcription	Esophagus	oesophagus
13	chr12:86177200-86177800	Weak transcription	A549	lung
14	chr12:86177200-86177800	Weak transcription	Hela-S3	cervix
15	chr12:86177200-86178200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:86177600-86178800	Enhancers	HMEC	breast

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