Variant report

Variant	rs1919040
Chromosome Location	chr16:31676924-31676925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1045483	0.83[CEU][hapmap]
rs10871458	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11150632	0.80[EUR][1000 genomes]
rs11150638	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1156903	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11642525	0.86[CEU][hapmap]
rs12324951	0.85[AMR][1000 genomes]
rs12716999	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12717000	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12921028	0.81[CEU][hapmap]
rs1304163	0.81[CEU][hapmap]
rs1406177	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1406178	0.81[CEU][hapmap]
rs1468158	0.81[CEU][hapmap]
rs1468159	0.81[CEU][hapmap]
rs1528317	0.81[CEU][hapmap]
rs1528319	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1534507	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1599855	0.83[CEU][hapmap]
rs1609289	0.81[EUR][1000 genomes]
rs1852666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881316	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1881318	0.81[CEU][hapmap]
rs1919039	0.80[EUR][1000 genomes]
rs1919042	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2091521	0.82[CEU][hapmap]
rs2106579	0.81[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2106581	0.87[ASN][1000 genomes]
rs2157970	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2178179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222754	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2359222	0.81[ASN][1000 genomes]
rs2359226	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2359455	0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28427454	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2884713	0.85[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap]
rs3751738	0.83[CEU][hapmap]
rs3751742	0.81[CEU][hapmap]
rs4499253	0.80[EUR][1000 genomes]
rs4632148	0.81[CEU][hapmap]
rs4889553	0.84[ASN][1000 genomes]
rs4889555	0.82[ASN][1000 genomes]
rs4889688	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4889693	0.82[ASN][1000 genomes]
rs6565267	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6565269	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6565275	0.85[AMR][1000 genomes]
rs6565278	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6565280	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6565282	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6565286	0.90[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.85[ASN][1000 genomes]
rs6565287	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7188627	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7190730	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7197963	0.81[CEU][hapmap]
rs7198038	0.83[CEU][hapmap]
rs727349	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7359491	0.81[CEU][hapmap]
rs8048591	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs8048741	0.81[CEU][hapmap]
rs8049323	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs8053712	0.82[ASN][1000 genomes]
rs8060086	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8062424	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8062902	0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs916753	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs929208	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs929209	0.81[CEU][hapmap]
rs9921546	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921898	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9929892	0.81[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9930700	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9936002	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9938037	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1057598	chr16:31608831-31726446	Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
10	nsv978316	chr16:31659376-31689005	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv974734	chr16:31666332-31689005	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
13	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31675200-31677400	Enhancers	NHEK	skin
2	chr16:31675400-31677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:31675400-31677400	Enhancers	HMEC	breast
4	chr16:31676200-31677000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:31676200-31677400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr16:31676400-31677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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