Variant report

Variant	rs13254133
Chromosome Location	chr8:40018586-40018587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11988447	1.00[EUR][1000 genomes]
rs2980822	0.87[AMR][1000 genomes]
rs4467925	1.00[EUR][1000 genomes]
rs59010645	1.00[EUR][1000 genomes]
rs59936756	1.00[EUR][1000 genomes]
rs60420552	1.00[EUR][1000 genomes]
rs7814906	1.00[EUR][1000 genomes]
rs7844209	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9298589	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv539555	chr8:39683857-40673606	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534582	chr8:39884590-40653224	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:40011200-40022600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:40011400-40020000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:40013600-40031600	Weak transcription	Right Ventricle	heart
4	chr8:40013800-40019600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:40013800-40020200	Enhancers	HepG2	liver
6	chr8:40014800-40028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:40015000-40019800	Weak transcription	Fetal Kidney	kidney
8	chr8:40015200-40021800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:40015200-40024800	Weak transcription	Spleen	Spleen
10	chr8:40015200-40029200	Weak transcription	Right Atrium	heart
11	chr8:40015400-40029000	Weak transcription	Fetal Brain Male	brain
12	chr8:40015600-40019800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:40015600-40022800	Weak transcription	Lung	lung
14	chr8:40016400-40019600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:40016800-40019000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:40016800-40019400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:40017000-40029400	Weak transcription	NH-A	brain
18	chr8:40017200-40020000	Weak transcription	Stomach Mucosa	stomach
19	chr8:40017200-40021600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:40017400-40018800	Enhancers	Fetal Intestine Large	intestine
21	chr8:40017600-40019800	Weak transcription	HUVEC	blood vessel
22	chr8:40017600-40022800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:40017800-40019400	Genic enhancers	A549	lung
24	chr8:40018400-40018600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr8:40018400-40019600	Weak transcription	Hela-S3	cervix

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