Variant report

Variant	rs630212
Chromosome Location	chr6:86087832-86087833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1000632	0.82[ASN][1000 genomes]
rs1000633	0.82[ASN][1000 genomes]
rs1000634	0.82[ASN][1000 genomes]
rs12055597	0.82[ASN][1000 genomes]
rs1322401	0.82[ASN][1000 genomes]
rs1322403	0.91[ASN][1000 genomes]
rs1322404	0.91[ASN][1000 genomes]
rs1570310	0.82[ASN][1000 genomes]
rs1665786	0.91[ASN][1000 genomes]
rs1744121	0.91[ASN][1000 genomes]
rs1744122	0.91[ASN][1000 genomes]
rs2208722	0.82[ASN][1000 genomes]
rs313204	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313206	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4624841	0.91[ASN][1000 genomes]
rs490079	0.91[ASN][1000 genomes]
rs494562	0.91[ASN][1000 genomes]
rs494688	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs495469	0.91[ASN][1000 genomes]
rs495472	0.91[ASN][1000 genomes]
rs498289	0.91[ASN][1000 genomes]
rs515980	0.91[ASN][1000 genomes]
rs520090	0.91[ASN][1000 genomes]
rs521005	0.91[ASN][1000 genomes]
rs522129	0.91[ASN][1000 genomes]
rs522915	0.91[ASN][1000 genomes]
rs527670	0.91[ASN][1000 genomes]
rs543359	0.91[ASN][1000 genomes]
rs544403	0.91[ASN][1000 genomes]
rs544408	0.91[ASN][1000 genomes]
rs547052	0.91[ASN][1000 genomes]
rs547963	0.91[ASN][1000 genomes]
rs550499	0.91[ASN][1000 genomes]
rs554113	0.91[ASN][1000 genomes]
rs567686	0.91[ASN][1000 genomes]
rs573737	0.91[ASN][1000 genomes]
rs573892	0.91[ASN][1000 genomes]
rs575477	0.91[ASN][1000 genomes]
rs589255	0.91[ASN][1000 genomes]
rs617483	0.91[ASN][1000 genomes]
rs618448	0.91[ASN][1000 genomes]
rs619299	0.91[ASN][1000 genomes]
rs619753	0.91[ASN][1000 genomes]
rs632163	0.91[ASN][1000 genomes]
rs637346	0.91[ASN][1000 genomes]
rs638745	0.91[ASN][1000 genomes]
rs640093	0.91[ASN][1000 genomes]
rs643591	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs683218	0.91[ASN][1000 genomes]
rs6919207	0.91[ASN][1000 genomes]
rs693077	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727870	0.85[ASN][1000 genomes]
rs7749745	0.82[ASN][1000 genomes]
rs7750970	0.91[ASN][1000 genomes]
rs7753711	0.91[ASN][1000 genomes]
rs7753936	0.82[ASN][1000 genomes]
rs7753950	0.82[ASN][1000 genomes]
rs7754559	0.82[ASN][1000 genomes]
rs7763191	0.91[ASN][1000 genomes]
rs7767626	0.91[ASN][1000 genomes]
rs7767800	0.91[ASN][1000 genomes]
rs7771860	0.91[ASN][1000 genomes]
rs9294335	0.91[ASN][1000 genomes]
rs9344518	0.91[ASN][1000 genomes]
rs9344519	0.82[ASN][1000 genomes]
rs9344520	0.82[ASN][1000 genomes]
rs9344521	0.82[ASN][1000 genomes]
rs9344522	0.82[ASN][1000 genomes]
rs9353309	0.91[ASN][1000 genomes]
rs9353310	0.91[ASN][1000 genomes]
rs9362209	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9362211	0.82[ASN][1000 genomes]
rs9362213	0.82[ASN][1000 genomes]
rs9362215	0.82[ASN][1000 genomes]
rs9450260	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450263	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450269	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450270	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450271	0.87[EUR][1000 genomes];0.94[ASN][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	nsv1017418	chr6:85344786-86259540	Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv538347	chr6:85344786-86259540	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1022445	chr6:85972678-86392968	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv538349	chr6:85972678-86392968	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv830721	chr6:85987644-86147414	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3326486	chr6:86020165-86292456	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1019960	chr6:86023236-86136666	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3435075	chr6:86052235-86271910	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs630212	NT5E	cis	Thyroid	GTEx
rs630212	NT5E	cis	Whole Blood	GTEx
rs630212	NT5E	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:86087600-86111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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