Variant report

Variant	rs7251526
Chromosome Location	chr19:35829513-35829514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10153506	0.84[CHB][hapmap]
rs10411704	0.88[MEX][hapmap];1.00[MKK][hapmap]
rs11669734	0.94[MEX][hapmap]
rs12975901	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs756796	1.00[MEX][hapmap];0.83[AFR][1000 genomes]
rs928938	0.83[CHB][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap]

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	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv833810	chr19:35782588-35971959	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	esv1828194	chr19:35812566-35865695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1067129	chr19:35827036-35849310	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7251526	MAG	cis	Thyroid	GTEx
rs7251526	TBCB	cis	cerebellum	SCAN
rs7251526	RPS16	cis	parietal	SCAN
rs7251526	U62631.5	cis	Thyroid	GTEx
rs7251526	KCNN4	cis	cerebellum	SCAN
rs7251526	CD22	cis	Thyroid	GTEx
rs7251526	ZNF382	cis	parietal	SCAN
rs7251526	PSMC4	cis	cerebellum	SCAN
rs7251526	LGALS14	cis	parietal	SCAN
rs7251526	CEACAM5	cis	parietal	SCAN
rs7251526	MAG	cis	lung	GTEx
rs7251526	KCNK6	cis	parietal	SCAN
rs7251526	GSK3A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35810400-35835200	Weak transcription	Fetal Lung	lung
2	chr19:35811600-35832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:35817600-35844000	Weak transcription	Brain Angular Gyrus	brain
4	chr19:35818800-35836600	Weak transcription	Brain Anterior Caudate	brain
5	chr19:35824200-35837000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:35824600-35834400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr19:35825400-35838200	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr19:35825400-35838200	Strong transcription	Ovary	ovary
9	chr19:35828200-35829600	Enhancers	HepG2	liver
10	chr19:35828400-35838200	Strong transcription	Brain Hippocampus Middle	brain
11	chr19:35828600-35836400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:35828800-35829600	Strong transcription	Spleen	Spleen
13	chr19:35829000-35832800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:35829200-35832000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:35829200-35835200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:35829400-35830200	Weak transcription	Brain Substantia Nigra	brain
17	chr19:35829400-35830800	Strong transcription	GM12878-XiMat	blood
18	chr19:35829400-35832000	Strong transcription	Primary B cells from cord blood	blood

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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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