Variant report

Variant	rs8048815
Chromosome Location	chr16:72637413-72637414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10400973	0.84[ASN][1000 genomes]
rs11075930	0.89[ASN][1000 genomes]
rs11075931	0.86[ASN][1000 genomes]
rs11075934	0.88[ASN][1000 genomes]
rs11075937	0.82[ASN][1000 genomes]
rs11075938	0.92[ASN][1000 genomes]
rs11075940	0.92[ASN][1000 genomes]
rs11531326	0.83[ASN][1000 genomes]
rs12051436	0.92[ASN][1000 genomes]
rs12445485	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12596421	0.89[ASN][1000 genomes]
rs12596520	0.89[ASN][1000 genomes]
rs12600298	0.89[ASN][1000 genomes]
rs12708932	0.92[ASN][1000 genomes]
rs1366847	0.92[ASN][1000 genomes]
rs1429433	0.83[ASN][1000 genomes]
rs1429434	0.83[ASN][1000 genomes]
rs1529527	0.91[ASN][1000 genomes]
rs1544964	0.83[ASN][1000 genomes]
rs16970922	0.82[ASN][1000 genomes]
rs16970969	0.87[ASN][1000 genomes]
rs16970987	0.89[ASN][1000 genomes]
rs16970998	0.89[ASN][1000 genomes]
rs2043022	0.85[ASN][1000 genomes]
rs2059901	0.81[ASN][1000 genomes]
rs2107153	0.89[ASN][1000 genomes]
rs2115625	0.83[ASN][1000 genomes]
rs2115626	0.84[ASN][1000 genomes]
rs2163067	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2860232	0.83[ASN][1000 genomes]
rs2884552	0.92[ASN][1000 genomes]
rs2905695	0.91[ASN][1000 genomes]
rs2905696	0.91[ASN][1000 genomes]
rs2914768	0.93[ASN][1000 genomes]
rs2914770	0.93[ASN][1000 genomes]
rs2914772	0.93[ASN][1000 genomes]
rs2914773	0.93[ASN][1000 genomes]
rs2914776	0.90[ASN][1000 genomes]
rs2914778	0.93[ASN][1000 genomes]
rs2914781	0.89[ASN][1000 genomes]
rs2967238	0.91[ASN][1000 genomes]
rs2967239	0.93[ASN][1000 genomes]
rs4278755	0.87[ASN][1000 genomes]
rs4788474	0.92[ASN][1000 genomes]
rs4788637	0.80[ASN][1000 genomes]
rs6499575	0.91[ASN][1000 genomes]
rs6499576	0.91[ASN][1000 genomes]
rs6499578	0.87[ASN][1000 genomes]
rs6499579	0.85[ASN][1000 genomes]
rs6499581	0.84[ASN][1000 genomes]
rs714101	0.85[ASN][1000 genomes]
rs714102	0.85[ASN][1000 genomes]
rs7187123	0.85[ASN][1000 genomes]
rs7192128	0.92[ASN][1000 genomes]
rs7194567	0.84[ASN][1000 genomes]
rs7199644	0.84[ASN][1000 genomes]
rs7199653	0.84[ASN][1000 genomes]
rs7203205	0.85[ASN][1000 genomes]
rs7206485	0.85[ASN][1000 genomes]
rs7405242	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8044614	0.85[ASN][1000 genomes]
rs8052426	0.84[ASN][1000 genomes]
rs8053419	0.84[ASN][1000 genomes]
rs8059268	0.83[ASN][1000 genomes]
rs9302640	0.84[ASN][1000 genomes]
rs9923006	0.85[ASN][1000 genomes]
rs9924937	0.83[ASN][1000 genomes]
rs9927280	0.91[ASN][1000 genomes]
rs9934215	0.87[ASN][1000 genomes]
rs9935202	0.92[ASN][1000 genomes]
rs9935250	0.92[ASN][1000 genomes]
rs9936708	0.91[ASN][1000 genomes]
rs999210	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv530712	chr16:72499171-72744114	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1065173	chr16:72509626-72693970	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv542951	chr16:72509626-72693970	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1064027	chr16:72559417-72656702	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv1056987	chr16:72620573-72658730	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1064112	chr16:72620573-72671503	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1066815	chr16:72627782-72658730	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1055808	chr16:72627782-72667298	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv2751612	chr16:72633299-72651914	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv431515	chr16:72633299-72654499	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv1818026	chr16:72633305-72704680	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72626800-72638600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr16:72636000-72638400	Enhancers	GM12878-XiMat	blood

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