Variant report

Variant	rs384491
Chromosome Location	chr14:77723469-77723470
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs383459	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs384492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs422642	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs429443	0.90[CHB][hapmap]
rs55891227	0.82[ASN][1000 genomes]
rs733416	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs733417	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs877896	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs888059	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong 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	23 gene(s)	inside rSNPs	diseases
3	nsv1361	chr14:77707417-77753024	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv902104	chr14:77720741-77756321	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs384491	GSTZ1	cis	lymphoblastoid	seeQTL
rs384491	PPP1R12C	trans	parietal	SCAN
rs384491	JDP2	cis	cerebellum	SCAN
rs384491	ESRRB	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77697600-77726800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:77709800-77729600	Weak transcription	Fetal Brain Male	brain
3	chr14:77711200-77731000	Weak transcription	Spleen	Spleen
4	chr14:77713200-77726800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:77716200-77724200	Weak transcription	Brain Angular Gyrus	brain
6	chr14:77718400-77726800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr14:77720000-77724600	Weak transcription	Fetal Intestine Small	intestine
8	chr14:77720400-77724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:77720600-77725000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:77720800-77724600	Weak transcription	Brain Germinal Matrix	brain
11	chr14:77720800-77725600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr14:77720800-77725800	Weak transcription	Esophagus	oesophagus
13	chr14:77720800-77726800	Weak transcription	Brain Anterior Caudate	brain
14	chr14:77720800-77727000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:77721800-77725000	Strong transcription	Fetal Brain Female	brain
16	chr14:77723000-77734000	Weak transcription	Gastric	stomach
17	chr14:77723400-77724000	Strong transcription	Pancreatic Islets	Pancreatic Islet

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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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