Variant report

Variant	rs12064974
Chromosome Location	chr1:213368005-213368006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

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]
rs12064585	1.00[YRI][hapmap]
rs12067919	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]
rs12091457	1.00[YRI][hapmap]
rs17020179	0.80[AFR][1000 genomes]
rs17020280	1.00[AFR][1000 genomes]
rs17020291	1.00[AFR][1000 genomes]
rs17020314	1.00[YRI][hapmap]
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	esv1794228	chr1:213355519-213379480	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213301000-213371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:213301000-213374800	Weak transcription	HSMM	muscle
3	chr1:213310000-213370400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:213326600-213422200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:213328200-213387200	Weak transcription	Spleen	Spleen
6	chr1:213337800-213374400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
8	chr1:213345600-213404600	Weak transcription	Osteobl	bone
9	chr1:213346200-213387400	Weak transcription	Gastric	stomach
10	chr1:213350400-213383200	Weak transcription	Placenta	Placenta
11	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:213358000-213375000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:213360000-213371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:213360400-213369600	Weak transcription	Liver	Liver
15	chr1:213360400-213371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:213360400-213371000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:213360400-213371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:213360400-213371200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:213360400-213373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:213360600-213370400	Weak transcription	Primary B cells from cord blood	blood
22	chr1:213360600-213370800	Weak transcription	Fetal Lung	lung
23	chr1:213360600-213378000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:213360800-213372200	Weak transcription	Left Ventricle	heart
25	chr1:213361600-213386600	Weak transcription	Aorta	Aorta
26	chr1:213362000-213370400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:213362200-213415400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:213362800-213372400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:213363800-213368200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:213364200-213370000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:213364400-213371000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:213364400-213372800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:213364600-213371000	Weak transcription	Adipose Nuclei	Adipose
34	chr1:213365400-213370200	Weak transcription	Fetal Stomach	stomach
35	chr1:213365400-213371000	Weak transcription	Primary T cells from cord blood	blood
36	chr1:213365600-213370400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:213366200-213371200	Weak transcription	NHDF-Ad	bronchial
38	chr1:213367000-213372200	Weak transcription	Ovary	ovary
39	chr1:213367400-213368200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr1:213367600-213368200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr1:213367600-213368400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:213367600-213368600	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:213367800-213368200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:213367800-213368600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:213368000-213368200	ZNF genes & repeats	Lung	lung
46	chr1:213368000-213370200	Weak transcription	Fetal Muscle Leg	muscle

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