Variant report

Variant	rs2018432
Chromosome Location	chr3:78868914-78868915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1033185	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11923155	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1355983	0.89[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1487135	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs162423	0.88[CHB][hapmap];0.82[YRI][hapmap];0.80[ASN][1000 genomes]
rs162425	0.92[CHB][hapmap]
rs162428	0.88[CHB][hapmap]
rs162429	0.87[CHB][hapmap]
rs17311036	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17311057	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17311169	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17376753	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1825760	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1865863	0.80[CHB][hapmap]
rs2082973	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329805	0.88[CHB][hapmap]
rs329812	0.86[CHB][hapmap]
rs329813	0.93[CHB][hapmap]
rs329819	0.87[CHB][hapmap]
rs329822	0.81[CHB][hapmap]
rs331134	0.85[CHB][hapmap]
rs331149	0.84[CHB][hapmap]
rs331158	0.93[CHB][hapmap];0.81[YRI][hapmap]
rs333483	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333493	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333506	0.86[CEU][hapmap];0.92[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333507	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35077320	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35556205	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4681013	0.92[CHB][hapmap];0.81[ASN][1000 genomes]
rs531125	0.86[CHB][hapmap]
rs57046576	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58611756	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58792018	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59263997	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6548595	0.90[CEU][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6548600	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6548601	0.81[CHB][hapmap]
rs66496525	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66528054	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67488304	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67703869	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6770452	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6772919	0.81[CHB][hapmap]
rs6805432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892461	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72892501	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73113488	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73117115	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73848602	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7610996	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7617433	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7629522	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7638321	0.82[ASN][1000 genomes]
rs7650002	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9866912	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv533681	chr3:78750924-79017336	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv877019	chr3:78808850-78877217	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv432459	chr3:78819310-78874310	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78851400-78880400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:78854200-78872600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:78854400-78871200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:78855400-78872600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:78860200-78871600	Weak transcription	HepG2	liver
6	chr3:78860800-78869600	Weak transcription	Fetal Brain Male	brain
7	chr3:78861000-78872600	Weak transcription	Brain Anterior Caudate	brain
8	chr3:78861800-78869800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:78862400-78869600	Weak transcription	Fetal Lung	lung
10	chr3:78865400-78869600	Weak transcription	Fetal Heart	heart
11	chr3:78866000-78872800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:78867600-78875200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:78867800-78871800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:78867800-78872600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr3:78868000-78871000	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:78868000-78871400	Weak transcription	Fetal Stomach	stomach
17	chr3:78868000-78881600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:78868200-78870000	Enhancers	Brain Substantia Nigra	brain
19	chr3:78868200-78870200	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:78868800-78869600	Enhancers	Brain Hippocampus Middle	brain
21	chr3:78868800-78869600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:78868800-78869800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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