Variant report

Variant	rs2817975
Chromosome Location	chr1:213360445-213360446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2841431	0.82[AFR][1000 genomes]
rs2841432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2841435	0.82[AFR][1000 genomes]
rs2841437	1.00[AMR][1000 genomes]
rs2936009	1.00[AMR][1000 genomes]
rs3010781	1.00[AMR][1000 genomes]
rs3010793	1.00[AMR][1000 genomes]
rs7540597	1.00[AMR][1000 genomes]
rs9430119	0.82[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:50 , 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	chr1:213336800-213361200	Weak transcription	NHDF-Ad	bronchial
7	chr1:213337800-213374400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:213340600-213424600	Weak transcription	Pancreas	Pancrea
9	chr1:213345600-213404600	Weak transcription	Osteobl	bone
10	chr1:213346200-213387400	Weak transcription	Gastric	stomach
11	chr1:213350400-213383200	Weak transcription	Placenta	Placenta
12	chr1:213357800-213387200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:213358000-213375000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:213358200-213362600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr1:213358400-213360600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr1:213358600-213360600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr1:213359000-213363200	Weak transcription	Psoas Muscle	Psoas
18	chr1:213359400-213364800	Weak transcription	HSMMtube	muscle
19	chr1:213359600-213360600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
20	chr1:213359600-213361600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:213359600-213362600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:213359800-213360600	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr1:213359800-213360600	ZNF genes & repeats	Fetal Lung	lung
24	chr1:213359800-213361600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
25	chr1:213360000-213360600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:213360000-213360600	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr1:213360000-213360600	ZNF genes & repeats	Rectal Smooth Muscle	rectum
28	chr1:213360000-213362400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:213360000-213371400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:213360200-213360600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:213360200-213360600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr1:213360200-213360600	ZNF genes & repeats	Thymus	Thymus
33	chr1:213360200-213360800	ZNF genes & repeats	Left Ventricle	heart
34	chr1:213360200-213361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:213360200-213361600	ZNF genes & repeats	Aorta	Aorta
36	chr1:213360200-213362600	Strong transcription	Fetal Stomach	stomach
37	chr1:213360200-213363800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:213360200-213368000	Weak transcription	Right Ventricle	heart
39	chr1:213360400-213361400	Weak transcription	Ovary	ovary
40	chr1:213360400-213361400	Weak transcription	Small Intestine	intestine
41	chr1:213360400-213363000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:213360400-213363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:213360400-213363800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:213360400-213369600	Weak transcription	Liver	Liver
45	chr1:213360400-213371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:213360400-213371000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:213360400-213371000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:213360400-213371200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr1:213360400-213373200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:213360400-213405200	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links