Variant report

Variant	rs28445582
Chromosome Location	chr8:118894190-118894191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10097988	1.00[AMR][1000 genomes]
rs10099089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475939	1.00[AMR][1000 genomes]
rs17475966	1.00[AMR][1000 genomes]
rs17476338	1.00[AMR][1000 genomes]
rs17476380	1.00[AMR][1000 genomes]
rs17476623	1.00[AMR][1000 genomes]
rs17476700	1.00[AMR][1000 genomes]
rs17476924	1.00[AMR][1000 genomes]
rs17503962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17503990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504018	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504736	1.00[AMR][1000 genomes]
rs17505086	1.00[AMR][1000 genomes]
rs17505304	1.00[AMR][1000 genomes]
rs17505513	1.00[AMR][1000 genomes]
rs17505610	1.00[AMR][1000 genomes]
rs17505691	1.00[AMR][1000 genomes]
rs17505910	1.00[AMR][1000 genomes]
rs28592980	1.00[AMR][1000 genomes]
rs56043836	1.00[AMR][1000 genomes]
rs57174831	1.00[AMR][1000 genomes]
rs59593630	1.00[AMR][1000 genomes]
rs61306907	1.00[AMR][1000 genomes]
rs73704842	1.00[AMR][1000 genomes]
rs73704843	1.00[AMR][1000 genomes]
rs73704896	1.00[AMR][1000 genomes]
rs73704897	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 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	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
4	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
5	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
6	chr8:118877800-118896200	Weak transcription	HepG2	liver
7	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr8:118881400-118904600	Weak transcription	Lung	lung
9	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
10	chr8:118881800-118895400	Weak transcription	Liver	Liver
11	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
13	chr8:118884400-118895400	Weak transcription	Fetal Intestine Large	intestine
14	chr8:118885600-118895000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:118888200-118894400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:118889800-118895800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
19	chr8:118890000-118895400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:118890200-118895400	Weak transcription	A549	lung
22	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
23	chr8:118891400-118895000	Enhancers	Osteobl	bone
24	chr8:118891400-118895600	Weak transcription	Aorta	Aorta
25	chr8:118891400-118895800	Enhancers	NHLF	lung
26	chr8:118892000-118895600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:118892400-118894800	Enhancers	HMEC	breast
28	chr8:118892600-118898600	Weak transcription	Small Intestine	intestine
29	chr8:118893000-118894600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:118893000-118894600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr8:118893000-118894600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:118893000-118894800	Enhancers	NH-A	brain
33	chr8:118893200-118894400	Enhancers	HSMMtube	muscle
34	chr8:118893200-118894400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:118893200-118894600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:118893200-118894600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:118893200-118894800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:118893200-118894800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr8:118893200-118894800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr8:118893200-118894800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:118893200-118894800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:118893200-118894800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:118893200-118894800	Enhancers	HSMM	muscle
44	chr8:118893200-118894800	Enhancers	NHEK	skin
45	chr8:118893200-118895200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:118893200-118897200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:118893400-118894200	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:118893400-118894200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:118893400-118894200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:118893400-118894600	Enhancers	Dnd41	blood

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