Variant report

Variant	rs6815371
Chromosome Location	chr4:49089388-49089389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10024211	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10222924	0.86[EUR][1000 genomes]
rs1051447	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11725397	0.84[EUR][1000 genomes]
rs11730515	0.85[EUR][1000 genomes]
rs12503138	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12505576	0.85[EUR][1000 genomes]
rs13132977	0.84[EUR][1000 genomes]
rs13135263	0.83[EUR][1000 genomes]
rs1350121	0.83[EUR][1000 genomes]
rs1350122	0.80[EUR][1000 genomes]
rs1350123	0.83[EUR][1000 genomes]
rs1350125	0.83[EUR][1000 genomes]
rs17611143	0.84[EUR][1000 genomes]
rs17657136	0.84[EUR][1000 genomes]
rs1840629	0.85[EUR][1000 genomes]
rs1840630	0.85[EUR][1000 genomes]
rs2260962	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605231	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605233	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605235	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605236	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605237	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605238	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2605239	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768951	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768952	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768957	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768958	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768959	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768965	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768966	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768968	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768969	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768970	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768971	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768973	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2768974	0.86[EUR][1000 genomes]
rs2768975	0.87[EUR][1000 genomes]
rs2768976	0.85[EUR][1000 genomes]
rs2768977	0.84[EUR][1000 genomes]
rs2768978	0.85[EUR][1000 genomes]
rs4273436	0.83[EUR][1000 genomes]
rs4695416	0.81[EUR][1000 genomes]
rs4695417	0.81[EUR][1000 genomes]
rs4695418	0.80[EUR][1000 genomes]
rs4695419	0.81[EUR][1000 genomes]
rs4695425	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55688634	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6822902	0.85[EUR][1000 genomes]
rs6852790	0.81[EUR][1000 genomes]
rs7674086	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7694122	0.85[EUR][1000 genomes]
rs936134	0.81[EUR][1000 genomes]
rs9683610	0.80[EUR][1000 genomes]
rs9992335	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	esv2757057	chr4:49049101-49628914	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2759251	chr4:49049101-49660117	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1012915	chr4:49052210-49297223	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1007703	chr4:49052210-49658600	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv594138	chr4:49053522-49094607	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2757934	chr4:49057410-49660117	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv428442	chr4:49057410-49660117	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	nsv1001526	chr4:49057815-49154757	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1002272	chr4:49081001-49309842	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1003616	chr4:49081001-49579167	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1004427	chr4:49081001-49658211	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
15	nsv1004834	chr4:49081001-49658600	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
16	nsv1002330	chr4:49085141-49561973	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1010304	chr4:49085141-49590590	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv998913	chr4:49085141-49620873	Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	esv3584802	chr4:49089374-49658612	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:49085400-49093200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:49087400-49093200	Weak transcription	Left Ventricle	heart

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