Variant report

Variant	rs12067919
Chromosome Location	chr1:213320285-213320286
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11120091	0.90[AFR][1000 genomes]
rs11120105	1.00[AFR][1000 genomes]
rs11120109	0.90[AFR][1000 genomes]
rs12060400	1.00[AFR][1000 genomes]
rs12061530	0.90[AFR][1000 genomes]
rs12064577	1.00[AFR][1000 genomes]
rs12064974	1.00[AFR][1000 genomes]
rs12071832	1.00[AFR][1000 genomes]
rs12074538	1.00[AFR][1000 genomes]
rs12075302	1.00[AFR][1000 genomes]
rs12085937	0.90[AFR][1000 genomes]
rs12086415	1.00[AFR][1000 genomes]
rs12086986	1.00[AFR][1000 genomes]
rs12089456	0.90[AFR][1000 genomes]
rs17020179	0.80[AFR][1000 genomes]
rs17020280	1.00[AFR][1000 genomes]
rs17020291	1.00[AFR][1000 genomes]
rs17020352	0.90[AFR][1000 genomes]
rs17020381	0.90[AFR][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	esv3392967	chr1:213271844-213490132	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv508692	chr1:213309036-213330907	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213261600-213327400	Weak transcription	Aorta	Aorta
2	chr1:213281200-213320400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:213284600-213349800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:213294200-213321400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:213297400-213320400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:213301000-213374800	Weak transcription	HSMM	muscle
8	chr1:213302600-213358200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:213306200-213331600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:213306600-213323400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:213309600-213329000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:213309600-213336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:213310000-213345800	Weak transcription	Lung	lung
14	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:213310400-213333600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:213310400-213345800	Weak transcription	Ovary	ovary
17	chr1:213312000-213340200	Weak transcription	HSMMtube	muscle
18	chr1:213312200-213340000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:213312200-213343600	Weak transcription	HepG2	liver
20	chr1:213312400-213322200	Weak transcription	Fetal Lung	lung
21	chr1:213312400-213336000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:213312600-213326800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:213312600-213327400	Weak transcription	K562	blood
24	chr1:213313000-213320600	Weak transcription	NHDF-Ad	bronchial
25	chr1:213313000-213320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:213313400-213322200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr1:213313800-213336000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:213316000-213340000	Weak transcription	Psoas Muscle	Psoas
29	chr1:213316200-213328400	Weak transcription	Placenta	Placenta
30	chr1:213316400-213336200	Weak transcription	NH-A	brain
31	chr1:213317400-213349600	Weak transcription	Left Ventricle	heart
32	chr1:213317600-213322600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:213317800-213331000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:213317800-213351600	Weak transcription	Fetal Kidney	kidney
35	chr1:213318200-213322000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:213319000-213327200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr1:213320000-213323600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:213320200-213327400	Weak transcription	Monocytes-CD14+_RO01746	blood

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