Variant report

Variant	rs73272041
Chromosome Location	chr12:42791967-42791968
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11385212	0.83[AMR][1000 genomes]
rs1234113	0.83[AMR][1000 genomes]
rs2639128	0.83[AMR][1000 genomes]
rs57166587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57260154	1.00[AMR][1000 genomes]
rs57549495	0.83[AMR][1000 genomes]
rs58488818	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58902406	1.00[AMR][1000 genomes]
rs59321446	1.00[AMR][1000 genomes]
rs60341977	1.00[AMR][1000 genomes]
rs712121	0.83[AMR][1000 genomes]
rs712128	0.83[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7303532	1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	1.00[AMR][1000 genomes]
rs73272039	1.00[AMR][1000 genomes]
rs73272052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272054	1.00[AMR][1000 genomes]
rs73272065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273905	1.00[AMR][1000 genomes]
rs73273908	1.00[AMR][1000 genomes]
rs73273915	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273940	1.00[AMR][1000 genomes]
rs73273948	1.00[AMR][1000 genomes]
rs73281857	0.83[AMR][1000 genomes]
rs73281868	0.83[AMR][1000 genomes]
rs73281890	0.83[AMR][1000 genomes]
rs73281897	0.83[AMR][1000 genomes]
rs73283726	0.83[AMR][1000 genomes]
rs73283728	0.83[AMR][1000 genomes]
rs73283731	0.83[AMR][1000 genomes]
rs73283737	0.83[AMR][1000 genomes]
rs73283752	0.83[AMR][1000 genomes]
rs73283757	0.83[AMR][1000 genomes]
rs73283764	0.83[AMR][1000 genomes]
rs73283782	1.00[AMR][1000 genomes]
rs73285606	1.00[AMR][1000 genomes]
rs73285607	1.00[AMR][1000 genomes]
rs73285610	1.00[AMR][1000 genomes]
rs73285625	1.00[AMR][1000 genomes]
rs73285647	1.00[AMR][1000 genomes]
rs73285664	1.00[AMR][1000 genomes]
rs73285666	1.00[AMR][1000 genomes]
rs73285678	1.00[AMR][1000 genomes]
rs74078990	1.00[AMR][1000 genomes]
rs7957401	0.83[AMR][1000 genomes]
rs7964994	0.83[AMR][1000 genomes]
rs9669751	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42720800-42844400	Weak transcription	Small Intestine	intestine
2	chr12:42721600-42800800	Weak transcription	Psoas Muscle	Psoas
3	chr12:42721600-42803600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42721800-42797000	Weak transcription	NHLF	lung
5	chr12:42721800-42803600	Weak transcription	Gastric	stomach
6	chr12:42722000-42793200	Weak transcription	Fetal Kidney	kidney
7	chr12:42732200-42794400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:42733400-42796800	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:42763800-42804200	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:42766200-42796800	Weak transcription	Aorta	Aorta
12	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
13	chr12:42769800-42794200	Weak transcription	Left Ventricle	heart
14	chr12:42770000-42794000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:42770200-42815800	Weak transcription	Fetal Lung	lung
16	chr12:42770400-42795400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:42770400-42816600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:42771000-42792600	Weak transcription	HepG2	liver
19	chr12:42771000-42795000	Weak transcription	HSMMtube	muscle
20	chr12:42771000-42796800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:42771000-42799000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr12:42771200-42794400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr12:42771200-42801000	Weak transcription	NH-A	brain
24	chr12:42771600-42793400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr12:42771800-42803000	Weak transcription	Brain Anterior Caudate	brain
26	chr12:42776000-42792000	Weak transcription	HMEC	breast
27	chr12:42776200-42795400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:42777000-42802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:42778000-42798200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:42779000-42798400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:42779400-42797800	Weak transcription	Brain Germinal Matrix	brain
32	chr12:42779800-42795000	Weak transcription	Osteobl	bone
33	chr12:42780200-42802800	Weak transcription	Right Ventricle	heart
34	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:42780400-42794800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:42780400-42795000	Weak transcription	NHEK	skin
37	chr12:42780400-42804200	Weak transcription	K562	blood
38	chr12:42780400-42811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:42781600-42793400	Weak transcription	Hela-S3	cervix
40	chr12:42782000-42802000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:42782200-42792600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr12:42782600-42793600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:42782800-42792000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:42782800-42793600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr12:42782800-42797000	Weak transcription	Ovary	ovary
46	chr12:42782800-42803400	Weak transcription	Spleen	Spleen
47	chr12:42782800-42804200	Weak transcription	Fetal Brain Female	brain
48	chr12:42782800-42807200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:42783000-42792400	Weak transcription	Adipose Nuclei	Adipose
50	chr12:42783000-42836000	Weak transcription	Lung	lung

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