Variant report

Variant	rs17109473
Chromosome Location	chr14:80037482-80037483
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483927	1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes]
rs12586770	1.00[MEX][hapmap]
rs12587614	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12587752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17109374	1.00[MKK][hapmap]
rs17109418	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs17109448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17109557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17109577	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17109616	1.00[MEX][hapmap]
rs17109704	1.00[MEX][hapmap]
rs17109754	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs2270446	1.00[MEX][hapmap]
rs59693725	0.98[ASN][1000 genomes]
rs8008318	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv518333	chr14:80035594-80041626	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80014400-80037800	Weak transcription	Aorta	Aorta
3	chr14:80034800-80038200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:80035400-80041200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:80035600-80041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:80035600-80041200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:80035600-80041200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:80035600-80041200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:80035600-80041200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:80035800-80040000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:80036600-80038000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:80036800-80038000	Enhancers	Brain Germinal Matrix	brain
13	chr14:80037000-80038000	Enhancers	Brain Hippocampus Middle	brain
14	chr14:80037000-80038000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:80037000-80044600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:80037200-80038000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr14:80037200-80038200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:80037200-80038400	Enhancers	Fetal Heart	heart
19	chr14:80037200-80038600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:80037400-80038000	Enhancers	Brain Cingulate Gyrus	brain

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