Variant report

Variant	rs3104703
Chromosome Location	chr16:10065136-10065137
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12102827	0.82[YRI][hapmap]
rs12927371	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12932206	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2650431	0.84[CHD][hapmap]
rs2650433	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs28402995	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3105686	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3105688	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3859123	0.87[CHD][hapmap]
rs9933159	0.87[LWK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949196	chr16:9937980-10182349	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1037001	chr16:10008023-10476482	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422500	chr16:10008309-10415517	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1045882	chr16:10025402-10117992	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1052566	chr16:10033178-10260068	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv905333	chr16:10055461-10079124	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2758410	chr16:10060976-10257550	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758629	chr16:10060976-10257550	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv427973	chr16:10060976-10257550	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3104703	MSC	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:10059600-10068000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr16:10063000-10065800	Enhancers	Brain Hippocampus Middle	brain
3	chr16:10063000-10066400	Enhancers	Brain Substantia Nigra	brain
4	chr16:10063600-10066200	Enhancers	Brain Angular Gyrus	brain
5	chr16:10063800-10066400	Enhancers	Brain Anterior Caudate	brain
6	chr16:10063800-10069200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:10064600-10065200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr16:10064600-10065400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
9	chr16:10064600-10065400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr16:10064800-10066000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:10065000-10065200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:10065000-10065400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr16:10065000-10065600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr16:10065000-10066200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr16:10065000-10066400	Enhancers	Brain Cingulate Gyrus	brain

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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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