Variant report

Variant	rs328047
Chromosome Location	chr3:78972040-78972041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs13075210	0.91[CHB][hapmap]
rs162262	0.86[CHB][hapmap];0.85[MEX][hapmap]
rs162263	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.82[EUR][1000 genomes]
rs162264	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs162265	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs162266	0.83[EUR][1000 genomes]
rs162267	0.82[EUR][1000 genomes]
rs162268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[CHD][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs162423	0.80[CHB][hapmap]
rs162425	0.90[CEU][hapmap];0.83[CHB][hapmap]
rs162427	0.81[CHB][hapmap]
rs162428	0.93[CHB][hapmap]
rs162429	0.93[CHB][hapmap];0.93[CHD][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap]
rs17313732	0.86[CHB][hapmap]
rs186648	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs186688	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs328045	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.81[EUR][1000 genomes]
rs329805	0.93[CHB][hapmap]
rs329813	0.86[CHB][hapmap]
rs329814	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs329815	0.83[EUR][1000 genomes]
rs329816	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs329817	0.83[EUR][1000 genomes]
rs329818	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs329819	0.88[CEU][hapmap];0.93[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs329820	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs329821	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs329822	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs329825	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes]
rs331149	0.82[CHD][hapmap];0.93[MEX][hapmap]
rs331158	0.86[CHB][hapmap]
rs331181	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs331184	0.82[EUR][1000 genomes]
rs331189	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs331190	0.82[ASN][1000 genomes]
rs331199	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs369346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs379346	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs387900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs388421	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs409361	0.80[EUR][1000 genomes]
rs420481	0.88[EUR][1000 genomes]
rs425121	0.90[EUR][1000 genomes]
rs434929	0.90[EUR][1000 genomes]
rs453354	0.84[EUR][1000 genomes]
rs4681013	0.84[CHB][hapmap]
rs479956	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs484531	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs498805	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs512135	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6548601	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6772919	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6800782	0.91[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7617538	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7619765	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv834744	chr3:78911545-79076470	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv877020	chr3:78913203-78975982	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv470672	chr3:78913203-78985805	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv590734	chr3:78915205-78985805	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv590735	chr3:78922852-78977507	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78959600-78987200	Weak transcription	Fetal Lung	lung
2	chr3:78963200-78991000	Weak transcription	Fetal Brain Male	brain
3	chr3:78966200-78972800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:78967200-78987200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:78967200-79000600	Weak transcription	Fetal Kidney	kidney
6	chr3:78968800-78987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:78969000-78990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:78969000-78991000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:78969200-78990400	Weak transcription	NHEK	skin
10	chr3:78969600-79000600	Weak transcription	HepG2	liver
11	chr3:78970400-78991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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