Variant report

Variant	rs17109102
Chromosome Location	chr14:79845367-79845368
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10450934	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10450935	0.93[EUR][1000 genomes]
rs11159404	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159408	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs11622878	0.92[EUR][1000 genomes]
rs11625634	0.94[EUR][1000 genomes]
rs12888940	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1984716	0.94[EUR][1000 genomes]
rs1993009	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1993011	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs2197988	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2217887	0.84[TSI][hapmap]
rs2218782	0.94[EUR][1000 genomes]
rs35820490	0.92[EUR][1000 genomes]
rs35993073	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4603484	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs714276	0.84[TSI][hapmap]
rs954860	0.84[TSI][hapmap]

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	nsv931412	chr14:79420297-79928269	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv530072	chr14:79769657-79928269	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv902111	chr14:79807197-79890677	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17109102	ISCA2	cis	cerebellum	SCAN
rs17109102	C14orf145	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79839400-79846000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:79840200-79846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:79842200-79845600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:79842600-79846200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:79843400-79849800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:79843800-79848400	Weak transcription	Fetal Brain Male	brain
7	chr14:79844200-79846200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:79844200-79846200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr14:79844600-79845400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:79844800-79845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:79845000-79846000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr14:79845000-79846000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:79845000-79846400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:79845200-79845600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:79845200-79845600	Weak transcription	Brain Germinal Matrix	brain
16	chr14:79845200-79846200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:79845200-79846400	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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