Variant report

Variant	rs9298440
Chromosome Location	chr8:48557441-48557442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs8178115	1.00[AFR][1000 genomes]
rs8178189	1.00[AFR][1000 genomes]
rs8178198	1.00[AFR][1000 genomes]
rs8178205	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48543800-48559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:48546000-48557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:48546200-48562000	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:48546400-48562800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:48552000-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:48552000-48564800	Weak transcription	HSMM	muscle
10	chr8:48552800-48564400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr8:48553400-48565600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:48554000-48557600	Strong transcription	Fetal Stomach	stomach
14	chr8:48554800-48559400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:48554800-48564000	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:48554800-48564400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:48554800-48566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:48556000-48557600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:48556000-48557600	Enhancers	Lung	lung
24	chr8:48556000-48557800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:48556000-48557800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr8:48556000-48558000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:48556000-48558200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:48556000-48558200	Enhancers	Placenta	Placenta
29	chr8:48556400-48557600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr8:48556400-48558000	Enhancers	Fetal Heart	heart
31	chr8:48556400-48558000	Enhancers	NHEK	skin
32	chr8:48556600-48557600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr8:48556600-48558000	Enhancers	Fetal Lung	lung
34	chr8:48556600-48558000	Enhancers	Fetal Muscle Leg	muscle
35	chr8:48556600-48558000	Enhancers	Gastric	stomach
36	chr8:48556600-48558000	Enhancers	Left Ventricle	heart
37	chr8:48556600-48558000	Enhancers	Psoas Muscle	Psoas
38	chr8:48556600-48558000	Enhancers	Right Atrium	heart
39	chr8:48556600-48558000	Enhancers	Right Ventricle	heart
40	chr8:48556600-48558200	Enhancers	Pancreas	Pancrea
41	chr8:48556800-48557800	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr8:48556800-48565000	Weak transcription	A549	lung
43	chr8:48557000-48558000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:48557000-48559800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:48557000-48560200	Weak transcription	Esophagus	oesophagus
46	chr8:48557400-48557600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:48557400-48557800	Enhancers	Spleen	Spleen
48	chr8:48557400-48557800	Enhancers	HSMMtube	muscle
49	chr8:48557400-48558000	Enhancers	Aorta	Aorta
50	chr8:48557400-48558000	Enhancers	Ovary	ovary

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