Variant report

Variant	rs4818947
Chromosome Location	chr21:46057548-46057549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10854463	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12106369	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs12482870	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs12626365	0.86[ASN][1000 genomes]
rs12627686	0.93[ASN][1000 genomes]
rs13048478	0.84[JPT][hapmap]
rs13051885	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs1883039	0.89[CHB][hapmap];0.80[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1883041	0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2020088	0.90[ASN][1000 genomes]
rs2073437	0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2210284	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2225433	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2256361	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2256490	0.89[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2256496	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2329837	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2838595	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2838601	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838602	0.90[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838610	0.90[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838611	0.90[CHB][hapmap];0.85[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2838612	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs2838614	0.89[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2838617	0.89[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838618	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2838619	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2838623	0.90[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838624	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838625	0.89[CHB][hapmap];0.80[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2838627	0.89[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28542851	0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs2876970	0.93[ASN][1000 genomes]
rs28817630	0.90[ASN][1000 genomes]
rs34979768	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3944594	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3966427	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs450639	0.86[ASN][1000 genomes]
rs463217	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4818728	0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4818946	0.89[ASN][1000 genomes]
rs4818950	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4818951	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818952	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4818953	0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62219767	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6518197	0.88[ASN][1000 genomes]
rs7275203	0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7275666	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7276421	0.90[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7280471	0.90[CHB][hapmap];0.85[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs743495	0.90[ASN][1000 genomes]
rs7509675	0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs762431	0.84[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs762433	0.91[EUR][1000 genomes]
rs8126553	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8127342	0.87[ASN][1000 genomes]
rs8129802	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs8131142	0.87[ASN][1000 genomes]
rs8132337	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8134285	0.83[ASN][1000 genomes]
rs926193	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9284507	0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs9306111	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9306112	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs9808722	0.93[ASN][1000 genomes]
rs9974195	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9979457	0.88[ASN][1000 genomes]
rs9980129	0.83[ASN][1000 genomes]
rs9982138	0.85[ASN][1000 genomes]
rs9983049	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9983892	0.90[JPT][hapmap]
rs9984726	0.80[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.86[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	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46049200-46060400	Weak transcription	Right Atrium	heart
2	chr21:46056600-46057800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:46056600-46058400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:46056800-46057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr21:46056800-46057800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46057000-46057800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr21:46057000-46057800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:46057000-46058000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr21:46057000-46058400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:46057000-46058400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr21:46057400-46057600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:46057400-46057600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
13	chr21:46057400-46057800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr21:46057400-46058000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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