Variant report

Variant	rs62488687
Chromosome Location	chr8:9910931-9910932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:9910858-9911030	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:9910902-9913264	GM12891	blood:	n/a	n/a
3	POLR2A	chr8:9910905-9910941	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:9910893-9911883	SK-N-MC	brain:	n/a	n/a
5	MXI1	chr8:9910720-9912976	IMR90	lung:	n/a	chr8:9911023-9911038

Variant related genes	Relation type
MSRA	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17150984	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17150993	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2661754	0.85[ASN][1000 genomes]
rs2684000	0.97[AMR][1000 genomes]
rs62488680	0.97[AMR][1000 genomes]
rs62488688	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62488689	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62488690	0.86[ASN][1000 genomes]
rs62491204	0.97[AMR][1000 genomes]
rs6987910	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv971581	chr8:9910302-9911256	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9902600-9911000	Weak transcription	Gastric	stomach
2	chr8:9905800-9911000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:9906200-9911200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:9906400-9911000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:9906600-9911000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:9907000-9911200	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:9907600-9911000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:9907800-9911000	Weak transcription	Fetal Intestine Large	intestine
9	chr8:9909000-9911200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:9909800-9911000	Enhancers	Fetal Brain Male	brain
11	chr8:9910600-9911000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:9910600-9911000	Enhancers	Brain Germinal Matrix	brain
13	chr8:9910800-9911000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:9910800-9911000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:9910800-9911000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr8:9910800-9911000	Enhancers	Primary T cells from cord blood	blood
17	chr8:9910800-9911000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:9910800-9911000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:9910800-9911000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:9910800-9911000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:9910800-9911000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:9910800-9911000	Enhancers	Adipose Nuclei	Adipose
23	chr8:9910800-9911000	Enhancers	Brain Anterior Caudate	brain
24	chr8:9910800-9911000	Active TSS	Brain Cingulate Gyrus	brain
25	chr8:9910800-9911000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr8:9910800-9911000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:9910800-9911000	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:9910800-9911000	Enhancers	Fetal Brain Female	brain
29	chr8:9910800-9911000	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:9910800-9911000	Enhancers	Rectal Smooth Muscle	rectum
31	chr8:9910800-9911000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:9910800-9911000	Active TSS	Stomach Smooth Muscle	stomach
33	chr8:9910800-9911000	Active TSS	GM12878-XiMat	blood
34	chr8:9910800-9911000	Enhancers	Hela-S3	cervix
35	chr8:9910800-9911000	Enhancers	HepG2	liver
36	chr8:9910800-9911000	Enhancers	HMEC	breast
37	chr8:9910800-9911000	Enhancers	HUVEC	blood vessel
38	chr8:9910800-9911000	Enhancers	NHDF-Ad	bronchial
39	chr8:9910800-9911000	Enhancers	NHEK	skin
40	chr8:9910800-9911200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:9910800-9911200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:9910800-9911200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:9910800-9911200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:9910800-9911200	Enhancers	Brain Angular Gyrus	brain
45	chr8:9910800-9911200	Enhancers	Fetal Heart	heart
46	chr8:9910800-9911200	Enhancers	Fetal Intestine Small	intestine
47	chr8:9910800-9911200	Enhancers	Fetal Kidney	kidney
48	chr8:9910800-9911200	Enhancers	Fetal Lung	lung
49	chr8:9910800-9911200	Enhancers	Fetal Thymus	thymus
50	chr8:9910800-9911400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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