Variant report

Variant	rs11781479
Chromosome Location	chr8:48397375-48397376
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72646333	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48374800-48407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:48391200-48399000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:48392200-48398400	Weak transcription	Brain Substantia Nigra	brain
4	chr8:48392200-48403000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:48392400-48397400	Weak transcription	Esophagus	oesophagus
6	chr8:48392400-48398600	Weak transcription	Right Ventricle	heart
7	chr8:48392600-48402000	Weak transcription	HepG2	liver
8	chr8:48392600-48402400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:48393000-48397400	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:48393400-48397400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:48393400-48398800	Weak transcription	K562	blood
12	chr8:48393400-48400200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:48393400-48410400	Weak transcription	Ovary	ovary
14	chr8:48393600-48397400	Weak transcription	NH-A	brain
15	chr8:48393600-48398600	Weak transcription	Fetal Heart	heart
16	chr8:48393600-48399000	Weak transcription	HMEC	breast
17	chr8:48393800-48397400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:48393800-48398200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:48393800-48398200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:48393800-48398400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:48393800-48398800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:48393800-48400800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:48394200-48419800	Weak transcription	Pancreas	Pancrea
24	chr8:48394400-48397400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:48394800-48398000	Weak transcription	Stomach Mucosa	stomach
26	chr8:48395800-48397800	ZNF genes & repeats	Dnd41	blood
27	chr8:48396000-48397600	ZNF genes & repeats	A549	lung
28	chr8:48396000-48398800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:48396200-48397800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:48396200-48397800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr8:48396200-48398000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr8:48396200-48399000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:48396200-48399600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:48396400-48398000	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr8:48396400-48398200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
36	chr8:48396400-48398400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:48396600-48397400	ZNF genes & repeats	Fetal Brain Female	brain
38	chr8:48396600-48397600	ZNF genes & repeats	Primary B cells from cord blood	blood
39	chr8:48396600-48397800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:48396600-48397800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:48396600-48397800	ZNF genes & repeats	HSMM	muscle
42	chr8:48396600-48398000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr8:48396600-48398000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
44	chr8:48396600-48398000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr8:48396600-48398200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:48396600-48398400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr8:48396600-48398600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr8:48396800-48397600	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr8:48396800-48397600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:48396800-48397600	Strong transcription	Brain Inferior Temporal Lobe	brain

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