Variant report

Variant	rs17126706
Chromosome Location	chr12:39217587-39217588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1400282	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7965216	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971101	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39220200	Weak transcription	Psoas Muscle	Psoas
2	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
3	chr12:39204000-39284800	Weak transcription	Lung	lung
4	chr12:39204800-39228800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:39204800-39231800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr12:39205600-39223200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:39205600-39229400	Weak transcription	HMEC	breast
8	chr12:39206400-39225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:39206600-39220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:39206600-39243800	Weak transcription	Left Ventricle	heart
11	chr12:39206600-39249200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:39206800-39221400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:39206800-39226200	Weak transcription	GM12878-XiMat	blood
14	chr12:39206800-39241400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:39206800-39241400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:39207000-39218400	Weak transcription	Liver	Liver
17	chr12:39213600-39219400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr12:39215000-39218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:39215400-39217800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr12:39215600-39221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:39216000-39237400	Weak transcription	Hela-S3	cervix
22	chr12:39216600-39218600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:39216800-39217600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:39216800-39217600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr12:39216800-39217800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:39216800-39217800	Enhancers	Brain Angular Gyrus	brain
27	chr12:39217000-39217800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:39217000-39218000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:39217200-39217600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr12:39217200-39217600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr12:39217200-39217800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr12:39217200-39217800	Enhancers	NHDF-Ad	bronchial
33	chr12:39217400-39217600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:39217400-39217800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr12:39217400-39217800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:39217400-39218200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr12:39217400-39218200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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