Variant report

Variant	rs73274725
Chromosome Location	chr12:39215612-39215613
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs73269109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269194	0.89[AFR][1000 genomes]
rs73273192	1.00[AMR][1000 genomes]
rs73273200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73274801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278531	0.89[AFR][1000 genomes];1.00[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	nsv676	chr12:39184359-39215822	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	lncRNA	n/a	inside rSNPs	diseases
2	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39201800-39216600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
3	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
4	chr12:39203600-39216800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:39204000-39284800	Weak transcription	Lung	lung
6	chr12:39204200-39216800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:39205000-39217000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:39205600-39229400	Weak transcription	HMEC	breast
12	chr12:39206000-39216800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:39206600-39217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:39206600-39220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
17	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:39206800-39217000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:39206800-39221400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
21	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:39207000-39218400	Weak transcription	Liver	Liver
24	chr12:39213600-39219400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:39214200-39217400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:39214400-39216600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:39215000-39216000	Strong transcription	Hela-S3	cervix
28	chr12:39215000-39218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:39215400-39217800	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr12:39215600-39216000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:39215600-39221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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