Variant report

Variant	rs739689
Chromosome Location	chr11:17417504-17417505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1109591	0.95[CEU][hapmap];0.95[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs11604345	0.83[ASN][1000 genomes]
rs1799859	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4148639	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4148641	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4148642	0.98[ASN][1000 genomes]
rs4148644	0.91[ASN][1000 genomes]
rs4757512	0.85[CHB][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.85[ASN][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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517772	chr11:17401134-17427862	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv528959	chr11:17403639-17435214	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv540951	chr11:17404438-17422755	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv540952	chr11:17407913-17422755	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv467713	chr11:17408025-17440473	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv553584	chr11:17408025-17440473	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs739689	ABCC8,SDHC	cis	intralobular white matter	BrainEAC
rs739689	ABCC8,SDHC	cis	brain	BrainEAC
rs739689	DKFZp686O24166	cis	cerebellum	SCAN
rs739689	GTF2H1	cis	parietal	SCAN
rs739689	ABCC8	cis	cerebellum	SCAN
rs739689	ABCC8	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17411400-17422600	Weak transcription	Right Atrium	heart
2	chr11:17411800-17417800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:17411800-17419000	Weak transcription	Brain Germinal Matrix	brain
4	chr11:17411800-17426000	Weak transcription	Lung	lung
5	chr11:17411800-17426000	Weak transcription	Pancreas	Pancrea
6	chr11:17411800-17426800	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:17411800-17426800	Weak transcription	Brain Substantia Nigra	brain
8	chr11:17411800-17435000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:17413200-17432400	Weak transcription	Dnd41	blood
10	chr11:17413600-17419200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:17413800-17420000	Strong transcription	Brain Inferior Temporal Lobe	brain
12	chr11:17414000-17421000	Strong transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:17415200-17418600	Strong transcription	Fetal Brain Female	brain
14	chr11:17416200-17423800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:17416400-17418600	Strong transcription	Brain Angular Gyrus	brain
16	chr11:17417000-17417600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:17417200-17417800	Enhancers	Gastric	stomach
18	chr11:17417400-17422800	Weak transcription	Brain Anterior Caudate	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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