Variant report

Variant	rs28489512
Chromosome Location	chr8:54933117-54933118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54932312..54937718-chr8:55045869..55049283,5	MCF-7	breast:
2	chr8:54929833..54936668-chr8:55008421..55016367,12	K562	blood:
3	chr8:54931365..54936825-chr8:55013053..55016452,9	MCF-7	breast:
4	chr8:54929135..54934459-chr8:55011274..55016367,7	K562	blood:
5	chr8:54899078..54901303-chr8:54931244..54934045,2	K562	blood:

Variant related genes	Relation type
ENSG00000120992	Chromatin interaction
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10101967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10112111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10504160	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11549448	0.85[AFR][1000 genomes]
rs16919753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28374410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28437156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452332	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28575670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28620338	1.00[AMR][1000 genomes]
rs28698373	1.00[AMR][1000 genomes]
rs28723633	0.83[AFR][1000 genomes]
rs28813536	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894994	1.00[AMR][1000 genomes]
rs73589289	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590828	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73590837	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73592909	0.89[AFR][1000 genomes];1.00[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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
3	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:54918600-54933400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:54920000-54933400	Weak transcription	Placenta	Placenta
6	chr8:54921200-54933200	Weak transcription	Fetal Intestine Large	intestine
7	chr8:54921600-54933400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:54925400-54933400	Enhancers	Primary B cells from peripheral blood	blood
9	chr8:54927000-54933400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:54929200-54933600	Weak transcription	Gastric	stomach
11	chr8:54929400-54933200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:54930600-54933200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:54930600-54933600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:54930800-54933400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr8:54931000-54933200	Enhancers	Brain Hippocampus Middle	brain
16	chr8:54931000-54933200	Enhancers	Thymus	Thymus
17	chr8:54931000-54933400	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:54931000-54933600	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:54931600-54933200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:54931600-54933400	Weak transcription	Small Intestine	intestine
21	chr8:54931800-54933200	Enhancers	Primary T cells from cord blood	blood
22	chr8:54932000-54933400	Weak transcription	Pancreas	Pancrea
23	chr8:54932000-54933400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:54932000-54933800	Weak transcription	Spleen	Spleen
25	chr8:54932200-54933200	Enhancers	Fetal Lung	lung
26	chr8:54932200-54933400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:54932200-54933400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:54932200-54933400	Weak transcription	Left Ventricle	heart
29	chr8:54932200-54933400	Weak transcription	Lung	lung
30	chr8:54932200-54933400	Flanking Active TSS	NHEK	skin
31	chr8:54932200-54933600	Enhancers	Brain Substantia Nigra	brain
32	chr8:54932200-54935600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr8:54932200-54936000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr8:54932400-54933200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:54932400-54933200	Transcr. at gene 5' and 3'	K562	blood
36	chr8:54932400-54933200	Flanking Active TSS	NHLF	lung
37	chr8:54932400-54933400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:54932400-54933400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr8:54932400-54933800	Enhancers	Stomach Mucosa	stomach
40	chr8:54932400-54935600	Active TSS	Right Atrium	heart
41	chr8:54932400-54935800	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr8:54932400-54936000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:54932600-54933200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:54932600-54933200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:54932600-54933200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr8:54932600-54933200	Enhancers	Brain Angular Gyrus	brain
47	chr8:54932600-54933200	Enhancers	HSMM	muscle
48	chr8:54932600-54933200	Enhancers	Osteobl	bone
49	chr8:54932600-54933400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:54932600-54933400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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