Variant report

Variant	rs8069948
Chromosome Location	chr17:16489526-16489527
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11870222	1.00[AMR][1000 genomes]
rs11870805	1.00[AMR][1000 genomes]
rs57260440	1.00[AMR][1000 genomes]
rs58309732	1.00[AMR][1000 genomes]
rs7216278	1.00[AMR][1000 genomes]
rs7218494	1.00[AMR][1000 genomes]
rs7226119	1.00[AMR][1000 genomes]
rs8067629	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	esv3528715	chr17:16489306-16489725	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3528716	chr17:16489388-16489717	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3528719	chr17:16489391-16489736	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3528718	chr17:16489468-16489678	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
13	esv3528720	chr17:16489470-16489674	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16488200-16489600	Enhancers	Adipose Nuclei	Adipose
2	chr17:16488200-16491800	Weak transcription	Pancreas	Pancrea
3	chr17:16488200-16492000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:16488200-16492000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:16488200-16492000	Weak transcription	Liver	Liver
6	chr17:16488200-16492000	Weak transcription	Brain Anterior Caudate	brain
7	chr17:16488200-16492000	Weak transcription	Brain Hippocampus Middle	brain
8	chr17:16488200-16492000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:16488200-16492000	Weak transcription	Brain Substantia Nigra	brain
10	chr17:16488200-16492000	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:16488200-16492000	Weak transcription	Psoas Muscle	Psoas
12	chr17:16488200-16492000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:16488200-16492000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr17:16488200-16492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr17:16488200-16492200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:16488200-16492200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:16488200-16492200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:16488200-16492200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:16488200-16492200	Weak transcription	Placenta	Placenta
20	chr17:16488200-16492200	Weak transcription	Left Ventricle	heart
21	chr17:16488200-16492200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr17:16488200-16492200	Weak transcription	Right Ventricle	heart
23	chr17:16488200-16492200	Weak transcription	HMEC	breast
24	chr17:16488400-16492000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:16488400-16492000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr17:16488800-16489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:16489200-16492200	Weak transcription	Lung	lung

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