Variant report

Variant	rs7142533
Chromosome Location	chr14:79077788-79077789
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr14:79076897-79078089	H1-neurons	neurons:	n/a	chr14:79077331-79077344

Variant related genes	Relation type
NRXN3	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1035612	1.00[AFR][1000 genomes]
rs10483908	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10483912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12586229	1.00[AFR][1000 genomes]
rs12587427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12588327	1.00[AFR][1000 genomes]
rs12588444	1.00[AFR][1000 genomes]
rs12590740	1.00[EUR][1000 genomes]
rs17107869	1.00[AFR][1000 genomes]
rs17107885	1.00[AFR][1000 genomes]
rs17107887	1.00[AFR][1000 genomes]
rs17107898	1.00[AFR][1000 genomes]
rs17107907	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107912	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107930	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17107978	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17107986	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17107993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108011	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17108021	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17108027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17108040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17108073	1.00[AFR][1000 genomes]
rs17108078	1.00[AFR][1000 genomes]
rs2287495	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55853427	0.94[ASN][1000 genomes]
rs56658384	1.00[AFR][1000 genomes]
rs56813549	1.00[AFR][1000 genomes]
rs57388154	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs57416351	0.99[ASN][1000 genomes]
rs58271165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58355788	1.00[AFR][1000 genomes]
rs58525848	1.00[AFR][1000 genomes]
rs59354957	1.00[AFR][1000 genomes]
rs59887424	0.93[ASN][1000 genomes]
rs60238041	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60568650	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61393149	0.99[ASN][1000 genomes]
rs61976092	0.99[ASN][1000 genomes]
rs61976120	0.93[ASN][1000 genomes]
rs6574456	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6574459	0.94[ASN][1000 genomes]
rs7148807	1.00[EUR][1000 genomes]
rs7153070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74064325	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8003025	1.00[AFR][1000 genomes]
rs8012296	1.00[EUR][1000 genomes]
rs8017659	1.00[ASN][1000 genomes]
rs8019422	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9646166	1.00[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv1367	chr14:79067521-79106387	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79073400-79078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:79074200-79078400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:79074400-79078200	Weak transcription	NHDF-Ad	bronchial
4	chr14:79075400-79079200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr14:79076600-79078800	Enhancers	Brain Germinal Matrix	brain
6	chr14:79077200-79077800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr14:79077200-79077800	Enhancers	Fetal Brain Female	brain
8	chr14:79077200-79078400	Enhancers	Fetal Brain Male	brain
9	chr14:79077200-79078800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:79077200-79079600	Enhancers	Brain Angular Gyrus	brain
11	chr14:79077400-79079400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:79077400-79079600	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:79077600-79078400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:79077600-79078400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:79077600-79078800	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:79077600-79079200	Weak transcription	Brain Anterior Caudate	brain

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