Variant report

Variant	rs10421331
Chromosome Location	chr19:43043132-43043133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10402697	1.00[EUR][1000 genomes]
rs10403856	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10404650	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes]
rs10408986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409433	1.00[AMR][1000 genomes]
rs10410129	1.00[AMR][1000 genomes]
rs10410174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410653	1.00[AMR][1000 genomes]
rs10411498	1.00[AMR][1000 genomes]
rs10411565	1.00[EUR][1000 genomes]
rs10411908	1.00[AMR][1000 genomes]
rs10413484	1.00[AMR][1000 genomes]
rs10414502	1.00[EUR][1000 genomes]
rs10414695	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10415759	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416535	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10417606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10418312	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418988	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10420327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421409	1.00[AMR][1000 genomes]
rs10421857	1.00[AMR][1000 genomes]
rs10421902	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes]
rs10469287	1.00[EUR][1000 genomes]
rs11878183	1.00[EUR][1000 genomes]
rs11878207	1.00[AMR][1000 genomes]
rs11879211	1.00[EUR][1000 genomes]
rs11880356	1.00[AMR][1000 genomes]
rs13343322	1.00[AMR][1000 genomes]
rs13343388	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes]
rs13343761	1.00[AMR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes]
rs13343966	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13346831	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346879	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229614	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28402882	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28463673	1.00[AMR][1000 genomes]
rs28469564	1.00[AMR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes]
rs28483598	1.00[AMR][1000 genomes]
rs28496975	1.00[AMR][1000 genomes]
rs28545051	1.00[EUR][1000 genomes]
rs28657829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663042	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes]
rs28686771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33919763	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35707383	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36089262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41407146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41446245	1.00[EUR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes]
rs60950516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7246232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7248473	1.00[AMR][1000 genomes]
rs7248543	1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes]
rs7258727	1.00[AMR][1000 genomes]
rs73558432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8099885	1.00[AMR][1000 genomes]
rs8109258	1.00[AMR][1000 genomes]
rs8111527	1.00[EUR][1000 genomes]
rs9304602	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv482597	chr19:43037214-43222644	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758501	chr19:43042747-43899053	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	esv2758763	chr19:43042747-43899053	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv428023	chr19:43042747-43899053	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43033600-43043800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:43033600-43044200	Weak transcription	Gastric	stomach
3	chr19:43033800-43043400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr19:43033800-43044200	Weak transcription	Brain Substantia Nigra	brain
5	chr19:43034200-43043600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:43038800-43043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:43038800-43044000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr19:43040400-43044200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr19:43041000-43043200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:43042600-43043200	Enhancers	HepG2	liver
11	chr19:43042800-43043400	Enhancers	HMEC	breast
12	chr19:43042800-43044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:43043000-43044000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:43043000-43044600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:43043000-43044600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:43043000-43044600	Enhancers	Adipose Nuclei	Adipose

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