Variant report

Variant	rs57303096
Chromosome Location	chr17:45553653-45553654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10514928	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16941923	0.81[EUR][1000 genomes]
rs1996521	0.81[EUR][1000 genomes]
rs2136752	0.81[EUR][1000 genomes]
rs28641090	0.80[EUR][1000 genomes]
rs3736439	0.81[EUR][1000 genomes]
rs3956021	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4305137	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55677939	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55693255	0.83[EUR][1000 genomes]
rs55853213	0.83[EUR][1000 genomes]
rs56195427	0.85[EUR][1000 genomes]
rs57517411	0.83[EUR][1000 genomes]
rs57711420	0.83[EUR][1000 genomes]
rs58221919	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58568239	0.83[EUR][1000 genomes]
rs59376508	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59512479	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59850765	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60843765	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61219318	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72825640	0.81[EUR][1000 genomes]
rs72825642	0.81[EUR][1000 genomes]
rs72825645	0.83[EUR][1000 genomes]
rs72825646	0.81[EUR][1000 genomes]
rs72825647	0.81[EUR][1000 genomes]
rs72825648	0.81[EUR][1000 genomes]
rs72825658	0.83[EUR][1000 genomes]
rs72825663	0.83[EUR][1000 genomes]
rs72825665	0.83[EUR][1000 genomes]
rs72825679	0.81[EUR][1000 genomes]
rs72825685	0.83[EUR][1000 genomes]
rs72829614	0.83[EUR][1000 genomes]
rs72829616	0.83[EUR][1000 genomes]
rs72829624	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829627	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829628	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72829631	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829632	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829633	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829634	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829641	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72829659	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72829670	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72829671	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72829681	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv908568	chr17:45506682-45590420	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	nsv908569	chr17:45537395-45603094	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv9566	chr17:45550586-45559287	Strong transcription Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv960119	chr17:45551104-45560111	Strong transcription Weak transcription	n/a	n/a	inside rSNPs	diseases
20	esv33689	chr17:45551959-45664575	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv471513	chr17:45552080-45671439	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45501400-45554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr17:45501400-45554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr17:45501600-45555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr17:45501600-45556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr17:45507200-45555000	Weak transcription	Fetal Thymus	thymus
6	chr17:45507600-45554200	Weak transcription	Left Ventricle	heart
7	chr17:45515600-45554200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:45516000-45556400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:45518000-45568800	Weak transcription	K562	blood
10	chr17:45518200-45554200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr17:45518600-45569200	Weak transcription	Brain Anterior Caudate	brain
12	chr17:45519400-45569400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr17:45519800-45555000	Weak transcription	Thymus	Thymus
14	chr17:45523200-45556400	Weak transcription	GM12878-XiMat	blood
15	chr17:45526200-45556000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:45526400-45568800	Weak transcription	Brain Angular Gyrus	brain
17	chr17:45526600-45568800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr17:45527000-45568800	Weak transcription	Colon Smooth Muscle	Colon
19	chr17:45527800-45568800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr17:45529800-45558200	Weak transcription	Brain Hippocampus Middle	brain
21	chr17:45530200-45568800	Weak transcription	A549	lung
22	chr17:45530400-45554400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:45531200-45560000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr17:45531400-45568800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr17:45531600-45555000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr17:45531600-45569200	Weak transcription	Primary T cells from cord blood	blood
27	chr17:45534800-45569400	Weak transcription	Esophagus	oesophagus
28	chr17:45537800-45569000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr17:45538200-45569000	Weak transcription	Brain Substantia Nigra	brain
30	chr17:45539800-45569400	Weak transcription	Brain Germinal Matrix	brain
31	chr17:45540400-45569600	Weak transcription	Small Intestine	intestine
32	chr17:45540600-45568800	Weak transcription	Right Ventricle	heart
33	chr17:45541200-45559000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr17:45541400-45554400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr17:45541800-45568800	Weak transcription	NHEK	skin
36	chr17:45542800-45554000	Weak transcription	Fetal Lung	lung
37	chr17:45542800-45558000	Weak transcription	Primary B cells from cord blood	blood
38	chr17:45543600-45568800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr17:45543600-45568800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr17:45543800-45568800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:45544000-45556200	Weak transcription	NHDF-Ad	bronchial
42	chr17:45544000-45569600	Weak transcription	Spleen	Spleen
43	chr17:45544400-45559600	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr17:45544400-45568800	Weak transcription	NH-A	brain
45	chr17:45544400-45569000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr17:45544600-45559400	Strong transcription	Fetal Stomach	stomach
47	chr17:45544800-45554200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr17:45544800-45556800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:45545000-45569000	Weak transcription	HSMMtube	muscle
50	chr17:45545400-45559200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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