Variant report

Variant	rs17311057
Chromosome Location	chr3:78841789-78841790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1033185	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11923155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1355983	0.92[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1487135	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs162423	0.86[CHB][hapmap]
rs162425	0.91[CHB][hapmap]
rs162427	0.80[CHB][hapmap]
rs162428	0.86[CHB][hapmap]
rs162429	0.85[CHB][hapmap]
rs17311036	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17311169	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17376753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1825760	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1865861	0.83[ASN][1000 genomes]
rs1865863	0.83[ASN][1000 genomes]
rs1961636	0.83[ASN][1000 genomes]
rs2018432	1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082973	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329805	0.86[CHB][hapmap]
rs329812	0.84[CHB][hapmap]
rs329813	0.92[CHB][hapmap]
rs329819	0.85[CHB][hapmap]
rs331134	0.83[CHB][hapmap]
rs331149	0.84[CHB][hapmap]
rs331158	0.92[CHB][hapmap]
rs333483	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333493	1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs333506	0.91[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333507	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35077320	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35556205	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4681011	0.86[ASN][1000 genomes]
rs4681013	0.91[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs531125	0.85[CHB][hapmap]
rs56077922	0.81[ASN][1000 genomes]
rs57046576	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58611756	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58792018	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59263997	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6548595	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6548600	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66496525	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66528054	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67488304	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67703869	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6770452	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6805432	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72892461	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72892501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73113488	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73117115	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73848602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7610996	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7617433	1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7629522	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7638321	0.85[ASN][1000 genomes]
rs7650002	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9861603	0.83[ASN][1000 genomes]
rs9866912	0.84[CHB][hapmap];0.83[ASN][1000 genomes]

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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78826600-78843600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:78835000-78843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:78835200-78843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:78838800-78843600	Weak transcription	NHEK	skin
5	chr3:78839800-78841800	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr3:78840000-78842200	Enhancers	Brain Hippocampus Middle	brain
7	chr3:78840400-78843600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr3:78840600-78841800	Enhancers	Brain Angular Gyrus	brain
9	chr3:78840600-78842000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:78841000-78841800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:78841000-78842200	Enhancers	Fetal Brain Female	brain
12	chr3:78841000-78842200	Enhancers	Fetal Muscle Leg	muscle
13	chr3:78841200-78842800	Enhancers	Brain Substantia Nigra	brain
14	chr3:78841200-78845800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:78841200-78850600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:78841400-78851600	Weak transcription	Brain Anterior Caudate	brain
17	chr3:78841600-78841800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:78841600-78850800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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