Variant report

Variant	rs2817692
Chromosome Location	chr10:98865286-98865287
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs12572597	0.83[TSI][hapmap]
rs12782356	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17112401	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs2451766	0.94[CEU][hapmap]
rs2636785	0.94[CEU][hapmap];0.87[GIH][hapmap];0.82[MKK][hapmap]
rs2636788	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2636789	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2636814	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2636815	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[MKK][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2636816	0.81[EUR][1000 genomes]
rs2817695	0.94[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs2817697	0.82[AFR][1000 genomes]
rs2817702	0.94[CEU][hapmap]
rs2861829	0.84[EUR][1000 genomes]
rs34145904	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	esv2758236	chr10:98789963-98962472	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2759777	chr10:98789963-98962472	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1037576	chr10:98791099-98873649	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1039568	chr10:98800844-98868329	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1040262	chr10:98805336-98872134	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv895913	chr10:98854410-98884402	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2817692	C10orf131	cis	cerebellum	SCAN
rs2817692	FRAT1	cis	cerebellum	SCAN
rs2817692	MRPL43	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98841200-98869200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:98857000-98869200	Weak transcription	Thymus	Thymus
3	chr10:98857200-98869000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:98858800-98867000	Strong transcription	Fetal Thymus	thymus
5	chr10:98861600-98869200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr10:98863200-98869000	Weak transcription	Fetal Brain Female	brain
7	chr10:98863200-98876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:98863400-98870000	Weak transcription	Brain Anterior Caudate	brain
9	chr10:98863800-98865800	Weak transcription	Left Ventricle	heart
10	chr10:98863800-98866600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:98863800-98866600	Weak transcription	Brain Germinal Matrix	brain
12	chr10:98863800-98869000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:98864000-98867200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:98864400-98865400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr10:98864600-98869200	Weak transcription	iPS DF 19.11 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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