Variant report

Variant	rs72825645
Chromosome Location	chr17:45411843-45411844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10514928	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941923	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1996521	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2136752	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28641090	0.92[EUR][1000 genomes]
rs3736439	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3744453	0.83[ASN][1000 genomes]
rs3956021	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4305137	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55677939	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55693255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55853213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56195427	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57303096	0.83[EUR][1000 genomes]
rs57453618	0.81[ASN][1000 genomes]
rs57517411	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57711420	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58221919	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58568239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58611856	0.80[ASN][1000 genomes]
rs58875262	0.83[ASN][1000 genomes]
rs58909422	0.91[ASN][1000 genomes]
rs59005133	0.88[ASN][1000 genomes]
rs59376508	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59512479	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59850765	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60768148	0.84[ASN][1000 genomes]
rs60843765	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61219318	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71141906	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72825640	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825642	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825646	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825647	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825648	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72825663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825679	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825685	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825688	0.95[EUR][1000 genomes]
rs72829614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72829616	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829624	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829627	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829628	0.95[EUR][1000 genomes]
rs72829631	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829632	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829633	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829634	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829641	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72829659	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72829670	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72829671	0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72829681	0.93[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73324412	0.88[ASN][1000 genomes]
rs8077042	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402000-45428600	Weak transcription	Spleen	Spleen
2	chr17:45402000-45442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45402200-45416800	Weak transcription	Lung	lung
4	chr17:45402200-45420400	Weak transcription	Pancreas	Pancrea
5	chr17:45402200-45446400	Weak transcription	Colon Smooth Muscle	Colon
6	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
7	chr17:45402400-45412200	Weak transcription	Adipose Nuclei	Adipose
8	chr17:45402400-45412800	Weak transcription	Ovary	ovary
9	chr17:45402400-45416000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:45402400-45419400	Weak transcription	Liver	Liver
11	chr17:45402400-45419600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr17:45402400-45421200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr17:45402400-45421400	Weak transcription	Fetal Kidney	kidney
14	chr17:45402400-45421600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:45402400-45423400	Weak transcription	NHDF-Ad	bronchial
16	chr17:45402400-45424200	Weak transcription	Fetal Brain Male	brain
17	chr17:45402400-45427200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:45402400-45428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:45402400-45433600	Weak transcription	Fetal Heart	heart
20	chr17:45402400-45433600	Weak transcription	Fetal Intestine Small	intestine
21	chr17:45402400-45433600	Weak transcription	Fetal Stomach	stomach
22	chr17:45402400-45435800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr17:45402400-45436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:45402600-45416800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:45402600-45422200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:45402600-45423000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr17:45402600-45423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr17:45402600-45424600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr17:45402600-45428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:45402800-45422400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr17:45402800-45440800	Weak transcription	Primary T cells from cord blood	blood
32	chr17:45403000-45413000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr17:45403000-45429400	Weak transcription	Placenta	Placenta
34	chr17:45407600-45435800	Weak transcription	Fetal Intestine Large	intestine
35	chr17:45408200-45421000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:45409200-45413600	Weak transcription	Fetal Muscle Leg	muscle
37	chr17:45409200-45425200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:45409400-45419600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:45409800-45415200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr17:45410200-45412600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:45411000-45414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:45411200-45412400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:45411200-45419000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr17:45411200-45424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:45411400-45413000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:45411400-45419800	Weak transcription	Fetal Lung	lung
47	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
48	chr17:45411800-45412200	Enhancers	HUVEC	blood vessel
49	chr17:45411800-45415400	Strong transcription	Primary B cells from cord blood	blood

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