Variant report

Variant	rs7478874
Chromosome Location	chr11:5820975-5820976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10047437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10734554	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10734555	0.82[JPT][hapmap]
rs10734556	0.85[JPT][hapmap]
rs10742782	0.85[JPT][hapmap]
rs10742783	0.85[JPT][hapmap]
rs10742786	0.85[JPT][hapmap]
rs10742790	0.85[JPT][hapmap]
rs10742798	0.85[JPT][hapmap]
rs10769213	0.85[JPT][hapmap]
rs10769214	0.85[JPT][hapmap]
rs10769216	0.85[JPT][hapmap]
rs10769217	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs10769218	0.85[JPT][hapmap]
rs10769219	0.85[JPT][hapmap]
rs10769221	0.85[JPT][hapmap]
rs10769223	0.85[JPT][hapmap]
rs10769235	0.86[EUR][1000 genomes]
rs10769236	0.86[EUR][1000 genomes]
rs10769240	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769242	0.85[JPT][hapmap]
rs10769246	0.85[JPT][hapmap]
rs10838626	0.85[JPT][hapmap]
rs10838632	0.85[JPT][hapmap]
rs10838633	0.85[JPT][hapmap]
rs10838637	0.83[EUR][1000 genomes]
rs10838639	0.85[JPT][hapmap]
rs10838653	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838665	0.99[ASN][1000 genomes]
rs10838667	0.99[ASN][1000 genomes]
rs10838688	0.90[ASN][1000 genomes]
rs11039005	0.85[JPT][hapmap]
rs11039050	1.00[JPT][hapmap]
rs11039085	0.80[AFR][1000 genomes]
rs11039096	0.86[EUR][1000 genomes]
rs11500474	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1377515	0.85[JPT][hapmap]
rs1453416	0.85[JPT][hapmap]
rs1453418	0.86[EUR][1000 genomes]
rs1453419	0.86[EUR][1000 genomes]
rs1453421	0.86[EUR][1000 genomes]
rs1453426	0.85[EUR][1000 genomes]
rs1453427	0.85[JPT][hapmap]
rs1840176	0.85[JPT][hapmap]
rs1947400	0.85[JPT][hapmap]
rs1966868	0.85[JPT][hapmap]
rs2219068	0.85[JPT][hapmap]
rs4277142	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4394862	0.85[JPT][hapmap]
rs4758098	0.82[JPT][hapmap]
rs4758099	0.86[EUR][1000 genomes]
rs4758101	0.86[EUR][1000 genomes]
rs4758102	0.86[EUR][1000 genomes]
rs4758103	0.86[EUR][1000 genomes]
rs4910849	0.85[EUR][1000 genomes]
rs4910850	0.86[EUR][1000 genomes]
rs6578684	0.85[JPT][hapmap]
rs6578686	0.85[JPT][hapmap]
rs6578688	0.85[JPT][hapmap]
rs7114394	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7122862	0.85[JPT][hapmap]
rs7394584	0.85[JPT][hapmap]
rs7394716	0.85[JPT][hapmap]
rs7396938	0.85[JPT][hapmap]
rs7484069	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925671	0.86[EUR][1000 genomes]
rs7931236	0.86[EUR][1000 genomes]
rs7934670	0.85[JPT][hapmap]
rs7936512	0.84[JPT][hapmap]
rs7937133	0.86[EUR][1000 genomes]
rs7938541	0.84[EUR][1000 genomes]
rs7940624	0.85[EUR][1000 genomes]
rs7940926	0.86[EUR][1000 genomes]
rs7941310	0.85[JPT][hapmap]
rs7948009	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7949761	0.85[JPT][hapmap]
rs7949986	0.86[EUR][1000 genomes]
rs9651658	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv1843296	chr11:5730377-5970717	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv2758255	chr11:5730377-5970717	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv2759801	chr11:5730377-6007613	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv896950	chr11:5740634-5827540	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	nsv832058	chr11:5747594-5926814	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
14	nsv896951	chr11:5773981-5832191	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv2757421	chr11:5776623-5842356	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv7654	chr11:5782093-5826200	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1041196	chr11:5790800-5829039	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv1837262	chr11:5808353-5830288	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	nsv517591	chr11:5811966-5821573	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7478874	OR52N3P	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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