Variant report

Variant	rs8069094
Chromosome Location	chr17:18096528-18096529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10048161	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10451244	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078411	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078412	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652964	0.90[EUR][1000 genomes]
rs11653988	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654146	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654177	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11654741	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655588	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655731	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11655797	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656035	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11657194	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11658477	0.90[EUR][1000 genomes]
rs11868832	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868886	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11871039	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11871491	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12600694	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13284	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563371	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1563373	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16960980	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960983	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960986	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960990	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16960996	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2015336	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28811342	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3088233	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34474249	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36058389	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55918833	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58441148	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59354912	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60285171	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072464	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62072465	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072466	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072467	0.89[EUR][1000 genomes]
rs62072468	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072496	0.90[EUR][1000 genomes]
rs62072497	0.90[EUR][1000 genomes]
rs62072498	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62072500	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073602	0.89[EUR][1000 genomes]
rs62073603	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073604	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62073605	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073606	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62073607	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073608	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073609	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073611	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073615	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62073649	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62073650	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502640	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7207276	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs735960	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8065026	0.88[EUR][1000 genomes]
rs8077577	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9916193	0.88[EUR][1000 genomes]
rs997315	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907770	chr17:18003845-18098018	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv907771	chr17:18013560-18098018	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
9	nsv907772	chr17:18030524-18098018	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv510702	chr17:18037676-18116801	Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr17:18090200-18103400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:18090800-18098200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:18090800-18098400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:18090800-18104000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:18091200-18097000	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr17:18091200-18104600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:18091400-18097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:18091400-18098800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:18091400-18114000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:18091600-18097800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:18091800-18098000	Weak transcription	Primary B cells from cord blood	blood
12	chr17:18091800-18098200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:18091800-18114400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:18092000-18098000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:18092000-18104000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:18092200-18098000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr17:18092200-18098200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:18093000-18098800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:18093400-18097800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr17:18093400-18097800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:18093400-18098000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr17:18094200-18098200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr17:18094200-18114600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:18094400-18097800	Weak transcription	HMEC	breast
25	chr17:18094400-18098200	Weak transcription	Fetal Heart	heart
26	chr17:18094400-18114600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr17:18094600-18114600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:18094800-18096800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:18094800-18097800	Weak transcription	NHLF	lung
30	chr17:18094800-18098200	Weak transcription	Fetal Lung	lung
31	chr17:18094800-18098200	Weak transcription	HSMM	muscle
32	chr17:18094800-18098600	Weak transcription	HSMMtube	muscle
33	chr17:18094800-18098600	Weak transcription	NH-A	brain
34	chr17:18094800-18101800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr17:18094800-18103400	Strong transcription	Fetal Intestine Large	intestine
36	chr17:18095000-18096600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr17:18095000-18096800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr17:18095000-18097000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:18095000-18097000	Weak transcription	Gastric	stomach
40	chr17:18095000-18097000	Weak transcription	A549	lung
41	chr17:18095000-18097000	Weak transcription	K562	blood
42	chr17:18095000-18097400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr17:18095000-18097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:18095000-18097800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr17:18095000-18097800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr17:18095000-18097800	Weak transcription	Fetal Brain Female	brain
47	chr17:18095000-18098200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:18095000-18098200	Weak transcription	Ovary	ovary
49	chr17:18095000-18108600	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:18095000-18114600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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