Variant report

Variant	rs61930072
Chromosome Location	chr12:86214857-86214858
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86212969..86215091-chr12:86229770..86232108,2	K562	blood:

Variant related genes	Relation type
ENSG00000198774	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1800832	0.81[AMR][1000 genomes]
rs55694421	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55736533	0.82[EUR][1000 genomes]
rs55754162	0.84[AMR][1000 genomes]
rs55811116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55811700	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55853578	0.95[AMR][1000 genomes]
rs55856700	0.82[EUR][1000 genomes]
rs55899243	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55900789	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55926212	0.82[EUR][1000 genomes]
rs55966514	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56055322	0.84[AMR][1000 genomes]
rs61928894	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61928895	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61928896	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61928898	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61928900	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61928903	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61928904	0.90[AMR][1000 genomes]
rs61928908	0.82[EUR][1000 genomes]
rs61928913	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61928917	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61928918	0.81[AMR][1000 genomes]
rs61928956	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61928957	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61928958	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61928959	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930060	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930061	0.84[AMR][1000 genomes]
rs61930062	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930070	0.84[AMR][1000 genomes]
rs61930071	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930073	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930075	0.84[AMR][1000 genomes]
rs61930079	0.84[AMR][1000 genomes]
rs61930080	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930082	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61930124	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930128	0.82[EUR][1000 genomes]
rs61930130	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930131	0.84[AMR][1000 genomes]
rs61930135	0.82[EUR][1000 genomes]
rs61930136	0.84[AMR][1000 genomes]
rs61930642	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930643	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930651	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930653	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930863	0.82[EUR][1000 genomes]
rs61930876	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61930878	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61930880	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61930881	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61930882	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7962310	0.82[EUR][1000 genomes]
rs7973110	0.82[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	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
6	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
7	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
8	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86199800-86215000	Weak transcription	NH-A	brain
2	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
3	chr12:86201800-86217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:86201800-86222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:86202600-86217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:86203800-86217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:86208000-86216600	Weak transcription	Pancreas	Pancrea
8	chr12:86208800-86219600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:86213800-86215400	Enhancers	A549	lung
10	chr12:86214000-86215800	Enhancers	Hela-S3	cervix
11	chr12:86214000-86216000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:86214200-86215000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:86214200-86217000	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:86214200-86217000	Weak transcription	Osteobl	bone
15	chr12:86214400-86216000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:86214400-86217000	Weak transcription	HMEC	breast
17	chr12:86214600-86215400	Enhancers	HUVEC	blood vessel
18	chr12:86214600-86217200	Weak transcription	NHEK	skin
19	chr12:86214800-86216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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