Variant report

Variant	rs73298627
Chromosome Location	chr12:32141927-32141928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1684130	1.00[AMR][1000 genomes]
rs57655004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59685434	1.00[AMR][1000 genomes]
rs60387118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61353224	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294866	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294884	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294886	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73294887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298610	1.00[AMR][1000 genomes]
rs73298611	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298612	1.00[AMR][1000 genomes]
rs73298637	0.84[AFR][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	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32116400-32143200	ZNF genes & repeats	GM12878-XiMat	blood
3	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
4	chr12:32123400-32143200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
5	chr12:32123800-32143200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
6	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
7	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:32132800-32147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:32133600-32142000	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr12:32134800-32142400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
12	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
13	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
15	chr12:32135000-32142400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:32135000-32143000	Weak transcription	Spleen	Spleen
17	chr12:32135000-32147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:32135000-32148600	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
20	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
23	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:32135000-32150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:32135000-32156400	Weak transcription	Gastric	stomach
27	chr12:32135200-32148200	Weak transcription	Brain Angular Gyrus	brain
28	chr12:32135400-32142400	Weak transcription	NHEK	skin
29	chr12:32135600-32148800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr12:32135800-32142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:32136000-32142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:32136000-32142600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:32136000-32142800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:32136000-32150000	Weak transcription	Aorta	Aorta
35	chr12:32136000-32150600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
37	chr12:32136200-32144200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:32136200-32150600	Weak transcription	Psoas Muscle	Psoas
39	chr12:32136200-32155400	Weak transcription	Osteobl	bone
40	chr12:32136400-32143600	Strong transcription	Dnd41	blood
41	chr12:32136400-32151000	Weak transcription	NH-A	brain
42	chr12:32136600-32142400	Weak transcription	Brain Anterior Caudate	brain
43	chr12:32136600-32142600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:32136600-32144800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:32136600-32149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:32136600-32150800	Weak transcription	HSMM	muscle
47	chr12:32137200-32143000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
49	chr12:32137400-32142200	Weak transcription	Placenta	Placenta
50	chr12:32137400-32142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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