Variant report

Variant	rs73300562
Chromosome Location	chr17:17482404-17482405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17480072..17482528-chr17:17493213..17495620,3	MCF-7	breast:
2	chr17:17478310..17481534-chr17:17481749..17484707,3	K562	blood:
3	chr17:17481596..17485305-chr17:17490709..17495159,5	MCF-7	breast:
4	chr17:17481955..17484360-chr17:17494270..17496697,2	K562	blood:

Variant related genes	Relation type
ENSG00000133027	Chromatin interaction
ENSG00000264666	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12600386	1.00[EUR][1000 genomes]
rs12601751	1.00[EUR][1000 genomes]
rs12603026	1.00[EUR][1000 genomes]
rs12603069	1.00[EUR][1000 genomes]
rs12603397	1.00[EUR][1000 genomes]
rs56888695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57606281	1.00[AMR][1000 genomes]
rs58186401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58667361	1.00[EUR][1000 genomes]
rs58701210	1.00[AMR][1000 genomes]
rs60811700	0.83[AMR][1000 genomes]
rs73288121	0.83[AMR][1000 genomes]
rs73295697	1.00[EUR][1000 genomes]
rs73300567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300575	0.88[AFR][1000 genomes];1.00[AMR][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	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1065270	chr17:17430116-17823086	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv543236	chr17:17430116-17823086	Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
8	nsv1062052	chr17:17461050-17507199	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv543237	chr17:17461050-17507199	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv833383	chr17:17464635-17509138	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17465600-17484000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr17:17466000-17484000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr17:17468800-17482800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr17:17468800-17484000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr17:17468800-17484000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr17:17469000-17494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:17469200-17493600	Weak transcription	Thymus	Thymus
8	chr17:17469600-17483800	Weak transcription	Osteobl	bone
9	chr17:17470200-17483800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:17470800-17483600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr17:17471600-17482800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:17471600-17493600	Weak transcription	Brain Angular Gyrus	brain
13	chr17:17471800-17493600	Weak transcription	Colon Smooth Muscle	Colon
14	chr17:17472400-17493600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr17:17473600-17484000	Weak transcription	HSMMtube	muscle
16	chr17:17474200-17493600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:17474600-17493800	Weak transcription	Primary B cells from cord blood	blood
18	chr17:17474800-17493200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:17475000-17483200	Weak transcription	Stomach Mucosa	stomach
20	chr17:17475600-17484400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:17475800-17484000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr17:17478200-17493800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:17479000-17483200	Weak transcription	Gastric	stomach
24	chr17:17479000-17483800	Weak transcription	Hela-S3	cervix
25	chr17:17479400-17483800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr17:17479600-17483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:17479800-17484600	Weak transcription	Fetal Thymus	thymus
28	chr17:17479800-17493400	Weak transcription	HMEC	breast
29	chr17:17480000-17483000	Weak transcription	Placenta	Placenta
30	chr17:17480200-17483200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:17480200-17483200	Weak transcription	Fetal Intestine Large	intestine
32	chr17:17480200-17483200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr17:17480200-17483400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr17:17480200-17483800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:17480200-17483800	Weak transcription	Brain Substantia Nigra	brain
36	chr17:17480200-17483800	Weak transcription	Right Atrium	heart
37	chr17:17480200-17484000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr17:17480200-17484000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:17480200-17484600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:17480200-17490800	Weak transcription	NHEK	skin
41	chr17:17480200-17493000	Weak transcription	Brain Germinal Matrix	brain
42	chr17:17480200-17493600	Weak transcription	Esophagus	oesophagus
43	chr17:17480200-17493600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr17:17480400-17483000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr17:17480400-17483200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr17:17480400-17483200	Weak transcription	Right Ventricle	heart
47	chr17:17480400-17483800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:17480400-17483800	Weak transcription	Ovary	ovary
49	chr17:17480400-17483800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:17480400-17483800	Weak transcription	NHDF-Ad	bronchial

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