Variant report

Variant	rs3811759
Chromosome Location	chr4:48491010-48491011
allele	A/G
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	CEBPB	chr4:48490809-48491079	HepG2	liver:	n/a	chr4:48490992-48491003

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48489612..48492154-chr4:48493154..48495602,2	K562	blood:

Variant related genes	Relation type
ZAR1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10517218	0.82[EUR][1000 genomes]
rs10805169	0.88[EUR][1000 genomes]
rs13101954	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13102023	0.82[EUR][1000 genomes]
rs13105648	0.83[EUR][1000 genomes]
rs13110633	0.82[EUR][1000 genomes]
rs13114836	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13139251	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13139533	0.85[EUR][1000 genomes]
rs13142082	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs13145713	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17472127	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34380340	0.82[EUR][1000 genomes]
rs34386102	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34922671	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35079648	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3943122	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs409911	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs6447639	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6824075	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6824125	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845250	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6847622	0.83[EUR][1000 genomes]
rs745761	0.87[GIH][hapmap];0.85[JPT][hapmap]
rs7670045	0.87[EUR][1000 genomes]
rs7676578	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7698564	0.83[EUR][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	nsv470034	chr4:48427773-48605628	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv594121	chr4:48427773-48605628	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv829925	chr4:48467693-48639342	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv879008	chr4:48473439-48496804	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv879009	chr4:48476539-48494546	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3811759	GABRG1	cis	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48486200-48492000	Weak transcription	Aorta	Aorta
2	chr4:48486600-48491800	Weak transcription	Pancreas	Pancrea
3	chr4:48487200-48505800	Weak transcription	A549	lung
4	chr4:48489600-48491600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:48490200-48491200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
6	chr4:48490800-48491400	Strong transcription	K562	blood

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