Variant report

Variant	rs59362647
Chromosome Location	chr8:92102772-92102773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11989356	0.83[AMR][1000 genomes]
rs11993219	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489455	0.83[AFR][1000 genomes]
rs56035719	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56854299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61515687	0.83[AFR][1000 genomes]
rs73694359	0.83[AFR][1000 genomes]
rs73694360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694366	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694369	0.81[AFR][1000 genomes]
rs73694376	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694377	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694384	0.87[AFR][1000 genomes]
rs73694386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73694389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73697108	0.83[AFR][1000 genomes]
rs73697109	0.83[AFR][1000 genomes]
rs73697110	0.83[AFR][1000 genomes]
rs73697112	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73697114	0.82[AFR][1000 genomes];0.83[AMR][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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92083000-92147800	Weak transcription	Spleen	Spleen
2	chr8:92083200-92113200	Weak transcription	Esophagus	oesophagus
3	chr8:92083400-92103600	Weak transcription	Aorta	Aorta
4	chr8:92083400-92103600	Weak transcription	Lung	lung
5	chr8:92083400-92124400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:92083600-92103600	Weak transcription	Gastric	stomach
7	chr8:92083600-92109800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:92083600-92112000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:92083600-92113000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr8:92083600-92114800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:92083600-92150800	Weak transcription	Pancreas	Pancrea
12	chr8:92083800-92103400	Weak transcription	Colonic Mucosa	Colon
13	chr8:92084000-92103600	Strong transcription	HSMM	muscle
14	chr8:92084000-92104000	Weak transcription	Thymus	Thymus
15	chr8:92084000-92107600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:92084000-92124600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:92084200-92104800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr8:92084200-92111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:92084600-92105800	Weak transcription	Fetal Brain Male	brain
20	chr8:92084800-92109000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr8:92085000-92125800	Weak transcription	Small Intestine	intestine
22	chr8:92087000-92104000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:92087600-92107400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:92088000-92111600	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:92088400-92104800	Strong transcription	Primary B cells from cord blood	blood
26	chr8:92088800-92105800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:92089000-92108000	Weak transcription	Fetal Heart	heart
28	chr8:92090800-92109200	Strong transcription	Dnd41	blood
29	chr8:92091000-92108600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:92091200-92133800	Weak transcription	NHLF	lung
31	chr8:92091800-92103600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:92091800-92137800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:92092200-92103800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:92092600-92111000	Weak transcription	HepG2	liver
35	chr8:92092600-92116800	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:92092600-92147800	Weak transcription	Right Ventricle	heart
37	chr8:92092800-92106600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:92092800-92111400	Weak transcription	Brain Substantia Nigra	brain
39	chr8:92092800-92124400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:92094200-92125200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr8:92095200-92103400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:92095200-92124400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr8:92095200-92130800	Weak transcription	HSMMtube	muscle
44	chr8:92095400-92104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:92095600-92103800	Weak transcription	Fetal Intestine Small	intestine
46	chr8:92095800-92126600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:92096000-92103400	Weak transcription	NHEK	skin
48	chr8:92096200-92103600	Weak transcription	Fetal Muscle Leg	muscle
49	chr8:92096400-92103400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:92096800-92103600	Weak transcription	H9 Cell Line	embryonic stem cell

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