Variant report

Variant	rs73273905
Chromosome Location	chr12:42820810-42820811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42819936..42821607-chr12:42836679..42839667,2	K562	blood:
2	chr10:32542632..32543373-chr12:42820419..42821188,2	MCF-7	breast:
3	chr12:42814393..42818074-chr12:42818334..42822097,5	K562	blood:
4	chr12:42818942..42821553-chr12:42842051..42843858,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11385212	0.83[AMR][1000 genomes]
rs57166587	1.00[AMR][1000 genomes]
rs57260154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549495	0.83[AMR][1000 genomes]
rs58488818	1.00[AMR][1000 genomes]
rs58902406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59321446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60341977	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7136339	1.00[AMR][1000 genomes]
rs7303532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73270272	0.83[AMR][1000 genomes]
rs73272006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272041	1.00[AMR][1000 genomes]
rs73272052	1.00[AMR][1000 genomes]
rs73272054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73272065	1.00[AMR][1000 genomes]
rs73273908	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273915	1.00[AMR][1000 genomes]
rs73273940	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73273948	0.90[AFR][1000 genomes];1.00[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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285664	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285666	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285678	0.90[AFR][1000 genomes];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:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:107 , 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	chr12:42738200-42823200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:42767200-42836200	Weak transcription	Esophagus	oesophagus
4	chr12:42780200-42836000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:42783000-42836000	Weak transcription	Lung	lung
6	chr12:42785400-42836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr12:42789600-42836200	Weak transcription	Pancreas	Pancrea
8	chr12:42793800-42840400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:42795400-42834600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:42795600-42825800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:42795600-42834400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:42795800-42821800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:42795800-42836000	Weak transcription	Thymus	Thymus
14	chr12:42796000-42823600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr12:42796000-42825600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:42796000-42825800	Weak transcription	Left Ventricle	heart
17	chr12:42796000-42833200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:42796000-42834400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:42796000-42835000	Weak transcription	HepG2	liver
20	chr12:42796000-42835800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:42796000-42836200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:42796000-42836200	Weak transcription	Fetal Stomach	stomach
23	chr12:42796000-42836400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:42796000-42838000	Weak transcription	HSMMtube	muscle
25	chr12:42796200-42826000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:42799800-42825400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:42801200-42823200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:42801400-42825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:42801600-42825600	Weak transcription	HSMM	muscle
30	chr12:42802000-42821800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:42802200-42821200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:42802600-42823400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:42803200-42821800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:42804400-42825800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:42810400-42825400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:42810400-42825400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr12:42812200-42835000	Weak transcription	Liver	Liver
38	chr12:42812600-42826400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:42813600-42834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:42813800-42823000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:42814000-42825400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:42814200-42835400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:42814200-42835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:42814400-42825800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:42814400-42835600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:42815400-42836000	Weak transcription	Ovary	ovary
47	chr12:42816000-42834800	Weak transcription	Brain Angular Gyrus	brain
48	chr12:42816200-42858200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr12:42816400-42834200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:42816400-42835400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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