Variant report

Variant	rs56316331
Chromosome Location	chr7:3847419-3847420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10274618	0.88[ASN][1000 genomes]
rs11772118	0.86[ASN][1000 genomes]
rs12113979	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12155211	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12155451	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12531984	0.90[ASN][1000 genomes]
rs12539695	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1548613	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1548614	0.90[ASN][1000 genomes]
rs1548615	0.98[ASN][1000 genomes]
rs1548617	0.98[ASN][1000 genomes]
rs17259867	0.88[ASN][1000 genomes]
rs17259924	0.88[ASN][1000 genomes]
rs17324947	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17325157	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17325709	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55841634	0.82[ASN][1000 genomes]
rs56403834	0.81[ASN][1000 genomes]
rs56863187	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58215957	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs60438481	0.90[ASN][1000 genomes]
rs62437947	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67200393	0.98[ASN][1000 genomes]
rs67724049	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6943646	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6945255	0.98[ASN][1000 genomes]
rs6946432	0.98[ASN][1000 genomes]
rs6955230	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6977475	0.98[ASN][1000 genomes]
rs6978305	0.90[ASN][1000 genomes]
rs73032391	0.81[ASN][1000 genomes]
rs73032394	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73034490	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs73036418	0.90[ASN][1000 genomes]
rs73036421	0.88[ASN][1000 genomes]
rs73310047	0.90[ASN][1000 genomes]
rs768721	0.88[ASN][1000 genomes]
rs7791274	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1021443	chr7:3705273-3889334	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1022650	chr7:3723035-3847680	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1031999	chr7:3782751-3847680	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv538683	chr7:3782751-3847680	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv2756505	chr7:3789992-3856544	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv605938	chr7:3792038-3852261	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1027624	chr7:3808366-3923408	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv538684	chr7:3808366-3923408	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv2762640	chr7:3838745-3856544	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3827000-3857200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3830800-3859800	Weak transcription	Pancreas	Pancrea
3	chr7:3833600-3847600	Weak transcription	Aorta	Aorta
4	chr7:3841400-3847600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:3843600-3848800	Weak transcription	Fetal Stomach	stomach
6	chr7:3846000-3848800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:3846800-3848200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr7:3847000-3848000	Enhancers	Fetal Muscle Trunk	muscle
9	chr7:3847000-3848000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:3847200-3847800	Enhancers	Spleen	Spleen
11	chr7:3847200-3848000	Enhancers	Right Ventricle	heart
12	chr7:3847200-3848200	Enhancers	Fetal Muscle Leg	muscle

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