Variant report

Variant	rs58241345
Chromosome Location	chr17:60087510-60087511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10512492	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11079459	0.84[AFR][1000 genomes]
rs12450223	0.84[ASN][1000 genomes]
rs12450560	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12452094	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12600620	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12604037	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16945753	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16945756	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16945759	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16945801	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2278812	0.84[ASN][1000 genomes]
rs28654524	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3744434	0.82[AMR][1000 genomes]
rs3809753	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3826419	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4410139	0.83[EUR][1000 genomes]
rs4968460	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4968461	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4968462	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4968463	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4968464	0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4968467	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968468	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968470	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56794817	0.85[AMR][1000 genomes]
rs57137451	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57746689	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57918684	0.82[EUR][1000 genomes]
rs58335059	0.98[ASN][1000 genomes]
rs59080342	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs60053512	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61469058	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61658218	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7218724	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7221089	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72843781	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73334621	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73336436	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8065778	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8066964	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8074890	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9630736	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60059000-60088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:60060400-60088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:60060400-60090600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
11	chr17:60060400-60098800	Weak transcription	Gastric	stomach
12	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
13	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr17:60064800-60088200	Weak transcription	Pancreas	Pancrea
16	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
17	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
18	chr17:60069800-60087800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:60070200-60088000	Weak transcription	NHEK	skin
20	chr17:60072200-60087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
22	chr17:60074600-60088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
24	chr17:60075000-60092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:60075800-60087600	Weak transcription	Brain Substantia Nigra	brain
26	chr17:60075800-60087600	Weak transcription	Fetal Heart	heart
27	chr17:60075800-60088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:60076000-60087800	Weak transcription	NHLF	lung
30	chr17:60076200-60087600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
32	chr17:60077400-60088200	Weak transcription	Ovary	ovary
33	chr17:60077800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:60079800-60094000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:60080000-60093200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:60080000-60094000	Strong transcription	GM12878-XiMat	blood
37	chr17:60080200-60099000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:60080600-60088000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr17:60081200-60093000	Strong transcription	Placenta	Placenta
40	chr17:60081400-60096400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:60081600-60090600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:60081800-60091600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr17:60081800-60093200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr17:60081800-60111600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr17:60082000-60088000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr17:60082000-60096200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:60082200-60087600	Weak transcription	Colon Smooth Muscle	Colon
48	chr17:60082400-60087800	Weak transcription	Fetal Kidney	kidney
49	chr17:60082600-60093000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr17:60083400-60088000	Weak transcription	Lung	lung

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