Variant report

Variant	rs17107651
Chromosome Location	chr14:70500973-70500974
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1005543	0.86[CHB][hapmap]
rs1156443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1156446	0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17107635	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17107637	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1998334	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2281663	0.86[CHB][hapmap]
rs3742912	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55784307	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56029860	0.87[ASN][1000 genomes]
rs60011612	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72728002	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72729803	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72729808	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8010305	0.86[CHB][hapmap]
rs8015491	0.81[CEU][hapmap]
rs8016522	0.86[CHB][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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv817638	chr14:70489680-70500973	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17107651	KIAA0247	cis	cerebellum	SCAN
rs17107651	ATP6V1D	cis	cerebellum	SCAN
rs17107651	ARG2	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70486400-70502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:70496800-70501000	Weak transcription	Pancreas	Pancrea
3	chr14:70497200-70503000	Weak transcription	Liver	Liver
4	chr14:70497400-70508400	Weak transcription	Fetal Brain Female	brain
5	chr14:70499000-70502400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70500000-70501200	Weak transcription	Gastric	stomach
7	chr14:70500000-70501400	Weak transcription	Spleen	Spleen
8	chr14:70500000-70502400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70500000-70502400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:70500200-70503200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:70500400-70512800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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Input of quick search could be:

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

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