Variant report

Variant	rs74067609
Chromosome Location	chr12:21849854-21849855
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16924221	1.00[AMR][1000 genomes]
rs1813751	1.00[AMR][1000 genomes]
rs2081819	1.00[AMR][1000 genomes]
rs2217238	1.00[AMR][1000 genomes]
rs55713096	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55920669	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56013787	1.00[AMR][1000 genomes]
rs56035640	1.00[AMR][1000 genomes]
rs56055068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56066637	1.00[AMR][1000 genomes]
rs56160727	1.00[AMR][1000 genomes]
rs56871137	1.00[AMR][1000 genomes]
rs57115374	1.00[AMR][1000 genomes]
rs57338327	1.00[AMR][1000 genomes]
rs58998049	1.00[AMR][1000 genomes]
rs59046730	1.00[AMR][1000 genomes]
rs59468844	1.00[AMR][1000 genomes]
rs60462646	1.00[AMR][1000 genomes]
rs60632805	1.00[AMR][1000 genomes]
rs61187969	1.00[AMR][1000 genomes]
rs61482461	1.00[AMR][1000 genomes]
rs71053337	0.82[AFR][1000 genomes]
rs7133951	1.00[AMR][1000 genomes]
rs7136997	1.00[AMR][1000 genomes]
rs74067603	1.00[AMR][1000 genomes]
rs74067604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74067606	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74067608	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74067610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74067611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74069345	1.00[AMR][1000 genomes]
rs74069349	1.00[AMR][1000 genomes]
rs74069350	1.00[AMR][1000 genomes]
rs74069351	1.00[AMR][1000 genomes]
rs74069353	1.00[AMR][1000 genomes]
rs74069355	1.00[AMR][1000 genomes]
rs74069356	1.00[AMR][1000 genomes]
rs74069357	1.00[AMR][1000 genomes]
rs74069365	1.00[AMR][1000 genomes]
rs74069366	1.00[AMR][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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21844800-21852600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:21845000-21850600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:21845200-21852600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:21845400-21851000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:21848400-21850000	Enhancers	Osteobl	bone
6	chr12:21848400-21850400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:21848400-21851000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:21848600-21850400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:21849000-21850000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:21849000-21851600	Enhancers	NHDF-Ad	bronchial
11	chr12:21849400-21851000	Weak transcription	Fetal Stomach	stomach
12	chr12:21849600-21850000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:21849800-21851000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:21849800-21851000	Enhancers	Fetal Kidney	kidney
15	chr12:21849800-21851000	Weak transcription	Fetal Lung	lung

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