Variant report

Variant	rs28406568
Chromosome Location	chr8:10193224-10193225
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17151843	0.82[ASN][1000 genomes]
rs17151854	0.83[ASN][1000 genomes]
rs17151859	0.83[ASN][1000 genomes]
rs17708276	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3812495	0.82[ASN][1000 genomes]
rs55768139	0.87[ASN][1000 genomes]
rs55836840	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6601443	0.84[ASN][1000 genomes]
rs66533014	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs68071218	0.82[ASN][1000 genomes]
rs6982308	0.92[ASN][1000 genomes]
rs73195303	0.87[ASN][1000 genomes]
rs7818437	0.87[ASN][1000 genomes]
rs7838901	0.84[ASN][1000 genomes]
rs7841921	0.82[ASN][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	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv890347	chr8:10153082-10331636	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10190400-10193400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr8:10190600-10193400	Enhancers	Spleen	Spleen
3	chr8:10192400-10193400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:10192400-10193400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:10192400-10193600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:10192400-10196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:10192600-10193400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr8:10192600-10193600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:10192600-10193600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:10192600-10193600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr8:10192600-10193600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:10192600-10193600	Flanking Active TSS	Fetal Brain Female	brain
13	chr8:10192600-10193800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:10192600-10206200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:10192600-10282400	Weak transcription	Gastric	stomach
16	chr8:10192800-10193400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:10192800-10193400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:10192800-10193400	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:10192800-10193400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:10192800-10193400	Enhancers	Esophagus	oesophagus
21	chr8:10192800-10193600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:10192800-10193600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:10192800-10193600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr8:10192800-10193600	Enhancers	Primary T cells from cord blood	blood
25	chr8:10192800-10193600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr8:10192800-10193600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:10192800-10193600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:10192800-10193600	Enhancers	Adipose Nuclei	Adipose
29	chr8:10192800-10193600	Enhancers	Brain Cingulate Gyrus	brain
30	chr8:10192800-10193600	Enhancers	Brain Substantia Nigra	brain
31	chr8:10192800-10193600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr8:10192800-10193600	Enhancers	Fetal Muscle Trunk	muscle
33	chr8:10192800-10193600	Enhancers	Fetal Muscle Leg	muscle
34	chr8:10192800-10193600	Enhancers	Fetal Thymus	thymus
35	chr8:10192800-10193600	Enhancers	Left Ventricle	heart
36	chr8:10192800-10194200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:10192800-10194200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:10192800-10194600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:10192800-10195600	Weak transcription	Brain Angular Gyrus	brain
40	chr8:10192800-10197600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:10192800-10197800	Enhancers	Fetal Brain Male	brain
42	chr8:10192800-10206400	Weak transcription	Thymus	Thymus
43	chr8:10193000-10193400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:10193000-10193400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:10193000-10193400	Enhancers	Colon Smooth Muscle	Colon
46	chr8:10193000-10193400	Enhancers	Stomach Smooth Muscle	stomach
47	chr8:10193000-10193400	Enhancers	NHEK	skin
48	chr8:10193000-10193600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr8:10193000-10193600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:10193000-10193600	Enhancers	Brain Anterior Caudate	brain

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