Variant report

Variant	rs7827571
Chromosome Location	chr8:48543757-48543758
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10094128	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10109113	0.81[EUR][1000 genomes]
rs10441581	0.81[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10957370	0.94[ASW][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs11778548	0.82[CEU][hapmap]
rs11782572	0.82[CEU][hapmap]
rs12674784	0.87[JPT][hapmap]
rs12678110	0.82[CEU][hapmap]
rs13279327	0.81[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.86[YRI][hapmap]
rs1542721	0.87[JPT][hapmap]
rs16930163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16930230	0.87[JPT][hapmap]
rs2029239	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2129617	0.82[CEU][hapmap]
rs2130411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4436571	0.84[EUR][1000 genomes]
rs4486659	0.83[EUR][1000 genomes]
rs4594029	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4873101	0.93[JPT][hapmap];0.86[YRI][hapmap]
rs4873386	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873446	0.85[EUR][1000 genomes]
rs4873463	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes]
rs4873478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4873529	0.82[CEU][hapmap]
rs4873546	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4873619	0.82[CEU][hapmap]
rs6472452	0.92[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap]
rs6986054	0.94[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6987043	0.82[CEU][hapmap]
rs7462209	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7830859	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7833589	0.94[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.81[MEX][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.91[YRI][hapmap]
rs7842068	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
2	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
4	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
5	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
6	chr8:48525000-48544000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:48535200-48547200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:48535600-48554200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:48535800-48554000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:48540400-48545200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:48540400-48545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:48540400-48545400	Weak transcription	Lung	lung
14	chr8:48540600-48544800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:48540600-48556600	Weak transcription	Right Ventricle	heart
16	chr8:48540800-48543800	Weak transcription	Fetal Brain Male	brain
17	chr8:48540800-48556000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:48541000-48544400	Weak transcription	Fetal Stomach	stomach
19	chr8:48541000-48545400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:48541000-48545400	Weak transcription	Osteobl	bone
21	chr8:48541000-48550200	Weak transcription	Fetal Heart	heart
22	chr8:48541000-48554400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:48541200-48556400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:48541400-48543800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:48541600-48556600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:48541800-48544200	Weak transcription	NHLF	lung
27	chr8:48541800-48545600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr8:48542000-48543800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:48542600-48543800	Enhancers	HepG2	liver
30	chr8:48542600-48544000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:48542600-48544000	Enhancers	Fetal Intestine Large	intestine
32	chr8:48542800-48543800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:48542800-48543800	Enhancers	Liver	Liver
34	chr8:48542800-48544600	Enhancers	Fetal Intestine Small	intestine
35	chr8:48542800-48546600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:48542800-48546600	Enhancers	Fetal Muscle Leg	muscle
37	chr8:48542800-48546600	Enhancers	Placenta	Placenta
38	chr8:48543000-48543800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr8:48543000-48543800	Enhancers	Colon Smooth Muscle	Colon
40	chr8:48543000-48543800	Enhancers	Psoas Muscle	Psoas
41	chr8:48543000-48543800	Enhancers	Small Intestine	intestine
42	chr8:48543000-48545000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:48543000-48545400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr8:48543000-48545400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:48543000-48546600	Enhancers	Adipose Nuclei	Adipose
46	chr8:48543200-48543800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:48543200-48543800	Enhancers	Brain Cingulate Gyrus	brain
48	chr8:48543200-48543800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:48543200-48543800	Enhancers	Left Ventricle	heart
50	chr8:48543200-48543800	Enhancers	Ovary	ovary

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