Variant report

Variant	rs73269173
Chromosome Location	chr12:39096007-39096008
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11168506	1.00[EUR][1000 genomes]
rs3803019	1.00[AMR][1000 genomes]
rs55845087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56061169	1.00[EUR][1000 genomes]
rs56091726	1.00[EUR][1000 genomes]
rs56310820	1.00[EUR][1000 genomes]
rs58484792	1.00[AMR][1000 genomes]
rs58499540	1.00[AMR][1000 genomes]
rs60539249	1.00[EUR][1000 genomes]
rs61221058	1.00[EUR][1000 genomes]
rs7136317	1.00[EUR][1000 genomes]
rs7307821	1.00[EUR][1000 genomes]
rs73269146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73271127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73273181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274761	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73274764	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73274767	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74085753	1.00[AMR][1000 genomes]
rs74086007	1.00[EUR][1000 genomes]
rs74087067	1.00[AMR][1000 genomes]
rs74087366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74089410	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39055800-39100800	Weak transcription	NHEK	skin
2	chr12:39056000-39114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
4	chr12:39066200-39114400	Weak transcription	Pancreas	Pancrea
5	chr12:39069400-39114600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:39074400-39098800	Weak transcription	Right Ventricle	heart
7	chr12:39079200-39114400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:39080600-39115600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:39080800-39096200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:39080800-39097400	Weak transcription	Fetal Intestine Small	intestine
11	chr12:39080800-39098600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:39080800-39105000	Weak transcription	Adipose Nuclei	Adipose
13	chr12:39083400-39113200	Weak transcription	Left Ventricle	heart
14	chr12:39084200-39104800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:39086000-39114400	Weak transcription	Aorta	Aorta
16	chr12:39087200-39097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:39087200-39113800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:39087800-39098400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:39089200-39113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:39092600-39153600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:39094000-39103800	Weak transcription	GM12878-XiMat	blood
22	chr12:39094200-39096800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:39094600-39114600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:39094800-39097000	Weak transcription	Lung	lung
25	chr12:39095000-39114000	Weak transcription	Liver	Liver
26	chr12:39095200-39114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:39095800-39097200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr12:39095800-39114600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:39095800-39117800	Weak transcription	Primary hematopoietic stem cells	blood

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