Variant report

Variant	rs859254
Chromosome Location	chr17:15818247-15818248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15811001..15813774-chr17:15817788..15820656,2	K562	blood:
2	chr17:15816332..15819901-chr17:15820743..15823352,3	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1102644	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868331	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11868613	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11869184	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11872072	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1622059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1797463	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041458	1.00[GIH][hapmap];0.82[MEX][hapmap]
rs2058366	1.00[EUR][1000 genomes]
rs2482988	1.00[EUR][1000 genomes]
rs2535600	1.00[EUR][1000 genomes]
rs2535602	1.00[EUR][1000 genomes]
rs2535604	1.00[EUR][1000 genomes]
rs2779190	1.00[EUR][1000 genomes]
rs2779191	1.00[EUR][1000 genomes]
rs2779194	1.00[EUR][1000 genomes]
rs2779195	1.00[GIH][hapmap]
rs2779203	1.00[EUR][1000 genomes]
rs3859259	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4791645	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4791646	1.00[EUR][1000 genomes]
rs4791651	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4791654	1.00[EUR][1000 genomes]
rs4792695	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792696	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792697	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4792698	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484520	1.00[EUR][1000 genomes]
rs500752	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs513190	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs708592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7209188	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs758854	1.00[EUR][1000 genomes]
rs758855	1.00[EUR][1000 genomes]
rs758856	1.00[EUR][1000 genomes]
rs758858	1.00[GIH][hapmap]
rs8079191	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs859225	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859227	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs859231	0.94[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859239	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs859241	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859242	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859246	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs859249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859258	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859259	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859260	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859261	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859262	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859266	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859267	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859268	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15809800-15820800	Weak transcription	Gastric	stomach
2	chr17:15812000-15820800	Weak transcription	Left Ventricle	heart
3	chr17:15813400-15819400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr17:15813400-15820400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:15813400-15820800	Weak transcription	Pancreas	Pancrea
6	chr17:15814600-15822400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:15816200-15820800	Weak transcription	Fetal Heart	heart
8	chr17:15816200-15820800	Weak transcription	Right Atrium	heart
9	chr17:15816600-15820800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:15817000-15818800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:15817000-15819400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr17:15817200-15818600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:15817200-15818600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr17:15817200-15818600	Enhancers	NHDF-Ad	bronchial
15	chr17:15817200-15818800	Enhancers	HMEC	breast
16	chr17:15817200-15820400	Enhancers	HUVEC	blood vessel
17	chr17:15817200-15825000	Enhancers	Hela-S3	cervix
18	chr17:15817400-15818600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:15817400-15818600	Enhancers	Osteobl	bone
20	chr17:15817400-15819000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr17:15817800-15818400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:15817800-15819000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr17:15817800-15819200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr17:15817800-15819400	Enhancers	NH-A	brain
25	chr17:15818000-15818400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:15818200-15818400	Enhancers	NHEK	skin
27	chr17:15818200-15818600	ZNF genes & repeats	Placenta	Placenta
28	chr17:15818200-15818600	Enhancers	Monocytes-CD14+_RO01746	blood

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