Variant report

Variant	rs7220797
Chromosome Location	chr17:16459749-16459750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1006561	1.00[EUR][1000 genomes]
rs16959784	1.00[EUR][1000 genomes]
rs16959820	0.85[AFR][1000 genomes]
rs16959828	0.88[AFR][1000 genomes]
rs16959831	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16959832	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16959849	1.00[EUR][1000 genomes]
rs28375510	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375681	1.00[EUR][1000 genomes]
rs28481713	1.00[EUR][1000 genomes]
rs28482815	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57088651	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57432974	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6502511	1.00[EUR][1000 genomes]
rs6502512	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7211497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7212777	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214389	1.00[EUR][1000 genomes]
rs7218171	1.00[EUR][1000 genomes]
rs7218177	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7220867	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7221073	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7222107	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73282666	1.00[EUR][1000 genomes]
rs73282673	1.00[EUR][1000 genomes]
rs73282675	1.00[EUR][1000 genomes]
rs73282678	1.00[EUR][1000 genomes]
rs73980200	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8066377	1.00[EUR][1000 genomes]
rs8068846	1.00[EUR][1000 genomes]
rs8069772	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8069951	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9890785	1.00[EUR][1000 genomes]
rs9899370	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900136	1.00[EUR][1000 genomes]
rs9900601	1.00[EUR][1000 genomes]
rs9902632	1.00[EUR][1000 genomes]
rs9912467	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9912759	1.00[EUR][1000 genomes]
rs9916250	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16447400-16463200	ZNF genes & repeats	Liver	Liver
2	chr17:16451200-16463200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:16452800-16460600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr17:16452800-16463200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:16452800-16463200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr17:16453400-16460200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr17:16453600-16463200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
8	chr17:16453800-16462200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr17:16454200-16459800	ZNF genes & repeats	Brain Germinal Matrix	brain
10	chr17:16454200-16460000	ZNF genes & repeats	Fetal Brain Female	brain
11	chr17:16454400-16460000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr17:16454400-16463200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr17:16454600-16460200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:16454600-16463200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:16454600-16467600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr17:16454800-16461600	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr17:16454800-16461600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr17:16454800-16467600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr17:16455000-16463400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:16455000-16471200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:16455200-16461600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
22	chr17:16455200-16462200	ZNF genes & repeats	Osteobl	bone
23	chr17:16455200-16463200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:16455200-16463200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:16455200-16463200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr17:16455200-16463200	ZNF genes & repeats	Left Ventricle	heart
27	chr17:16455400-16463200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr17:16455400-16463200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
29	chr17:16455400-16463400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:16455400-16468600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:16455600-16461800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr17:16455600-16463200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr17:16455600-16463200	ZNF genes & repeats	Ovary	ovary
34	chr17:16455600-16463200	ZNF genes & repeats	A549	lung
35	chr17:16455600-16463200	ZNF genes & repeats	Dnd41	blood
36	chr17:16455600-16463200	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr17:16455800-16463200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
38	chr17:16456000-16460800	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
39	chr17:16456000-16462200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
40	chr17:16456400-16460800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:16456400-16466600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:16456400-16467800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:16457200-16463000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:16457800-16460200	Strong transcription	HSMM	muscle
45	chr17:16458000-16461000	Strong transcription	Brain Cingulate Gyrus	brain
46	chr17:16458200-16461000	Weak transcription	Fetal Stomach	stomach
47	chr17:16458200-16461000	Weak transcription	Pancreas	Pancrea
48	chr17:16458200-16463200	Strong transcription	Rectal Smooth Muscle	rectum
49	chr17:16458400-16460200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:16458400-16460600	Weak transcription	Placenta	Placenta

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