Variant report

Variant	rs1384678
Chromosome Location	chr8:63198386-63198387
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10090048	0.96[ASN][1000 genomes]
rs10090858	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10094502	0.96[ASN][1000 genomes]
rs10095168	0.97[ASN][1000 genomes]
rs10099748	0.96[ASN][1000 genomes]
rs10101551	0.97[ASN][1000 genomes]
rs1154592	0.95[ASN][1000 genomes]
rs11774413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11778470	0.95[ASN][1000 genomes]
rs12548234	0.98[ASN][1000 genomes]
rs13252919	0.98[ASN][1000 genomes]
rs13255752	0.97[ASN][1000 genomes]
rs13261910	0.87[ASN][1000 genomes]
rs13268451	0.96[ASN][1000 genomes]
rs13271280	0.98[ASN][1000 genomes]
rs13281158	0.98[ASN][1000 genomes]
rs1351702	0.96[ASN][1000 genomes]
rs1384675	0.97[ASN][1000 genomes]
rs1384683	0.96[ASN][1000 genomes]
rs1384684	0.96[ASN][1000 genomes]
rs1483165	0.97[ASN][1000 genomes]
rs1483173	0.94[ASN][1000 genomes]
rs1483176	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552205	0.97[ASN][1000 genomes]
rs2351652	0.98[ASN][1000 genomes]
rs2351653	0.93[ASN][1000 genomes]
rs2625413	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28556827	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2882742	0.95[ASN][1000 genomes]
rs4262319	0.94[ASN][1000 genomes]
rs4391424	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4637821	0.98[ASN][1000 genomes]
rs4738948	0.96[ASN][1000 genomes]
rs6983788	0.96[ASN][1000 genomes]
rs7017869	0.95[ASN][1000 genomes]
rs7017975	0.95[ASN][1000 genomes]
rs7829743	0.80[EUR][1000 genomes]
rs7834815	0.98[ASN][1000 genomes]
rs900491	0.95[ASN][1000 genomes]
rs900492	0.95[ASN][1000 genomes]
rs9643536	0.94[ASN][1000 genomes]
rs9657031	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9792368	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9987255	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2757277	chr8:63156123-63260182	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2759621	chr8:63156123-63260182	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63191000-63209200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:63198000-63198400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:63198000-63199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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