Variant report

Variant	rs55954471
Chromosome Location	chr8:35097937-35097938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1406379	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1406380	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1528706	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1528723	0.92[EUR][1000 genomes]
rs2204720	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3108624	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4527865	0.83[EUR][1000 genomes]
rs56109802	0.83[EUR][1000 genomes]
rs56328805	0.83[EUR][1000 genomes]
rs56843404	0.82[EUR][1000 genomes]
rs62503909	0.83[EUR][1000 genomes]
rs62503910	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62503912	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6995169	0.83[EUR][1000 genomes]
rs7820017	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831284	chr8:35018419-35193084	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv429910	chr8:35021411-35257445	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35095400-35099800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:35095400-35100200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:35095600-35098400	Weak transcription	Brain Angular Gyrus	brain
4	chr8:35095600-35098400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:35095600-35104000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:35096000-35100400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:35096000-35101200	Enhancers	Fetal Brain Male	brain
8	chr8:35096000-35135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:35096400-35117400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:35096600-35098400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:35096800-35098200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:35097000-35100400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:35097200-35100600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:35097200-35108400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:35097400-35098400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:35097600-35124000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:35097800-35098000	Active TSS	Fetal Brain Female	brain
18	chr8:35097800-35098600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr8:35097800-35098800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr8:35097800-35099200	Enhancers	Cortex derived primary cultured neurospheres	brain

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