Variant report

Variant	rs12600976
Chromosome Location	chr17:17532577-17532578
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12601185	0.91[ASN][1000 genomes]
rs35474845	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925048	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4925049	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4925051	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55793618	0.95[ASN][1000 genomes]
rs55844525	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57226466	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57608533	0.96[ASN][1000 genomes]
rs60410257	0.97[ASN][1000 genomes]
rs60441671	0.94[ASN][1000 genomes]
rs6502611	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7209194	0.97[ASN][1000 genomes]
rs7209666	0.97[ASN][1000 genomes]
rs7219777	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7225010	0.95[ASN][1000 genomes]
rs73288113	0.80[ASN][1000 genomes]
rs73290118	0.98[ASN][1000 genomes]
rs73290119	0.98[ASN][1000 genomes]
rs73290129	0.97[ASN][1000 genomes]
rs73290131	0.97[ASN][1000 genomes]
rs8074272	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8081810	0.82[ASN][1000 genomes]
rs9890324	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9896880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
4	nsv833384	chr17:17491483-17645648	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv869118	chr17:17509896-17599850	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv20304	chr17:17525592-17533785	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv907751	chr17:17530554-17581184	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17528800-17543400	Weak transcription	Spleen	Spleen
2	chr17:17530600-17536800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:17532000-17532600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr17:17532000-17532600	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr17:17532200-17534800	Weak transcription	Placenta	Placenta
6	chr17:17532200-17536400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:17532200-17536600	Weak transcription	Esophagus	oesophagus
8	chr17:17532400-17532600	Enhancers	Primary B cells from cord blood	blood
9	chr17:17532400-17532600	Enhancers	Primary B cells from peripheral blood	blood
10	chr17:17532400-17532600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr17:17532400-17532600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr17:17532400-17532600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr17:17532400-17532600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:17532400-17532800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr17:17532400-17532800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:17532400-17532800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:17532400-17532800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr17:17532400-17536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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