Variant report

Variant	rs73301842
Chromosome Location	chr17:17828450-17828451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17826163..17829197-chr17:17831248..17834653,3	MCF-7	breast:
2	chr17:17827704..17830573-chr17:17832977..17835399,2	K562	blood:
3	chr17:17822649..17827287-chr17:17828107..17833962,6	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56790053	0.82[AFR][1000 genomes]
rs59948477	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60387072	1.00[AMR][1000 genomes]
rs73299834	1.00[AMR][1000 genomes]
rs73299839	1.00[AMR][1000 genomes]
rs73299846	1.00[AMR][1000 genomes]
rs73299887	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301851	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301854	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73301880	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73303830	0.88[AFR][1000 genomes]
rs73303831	0.88[AFR][1000 genomes]
rs73303840	0.83[AFR][1000 genomes]
rs8066353	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8070462	0.83[AFR][1000 genomes]
rs8077514	1.00[AMR][1000 genomes]
rs8080949	1.00[AMR][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	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	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	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
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17814800-17833200	Weak transcription	Aorta	Aorta
4	chr17:17817600-17831600	Weak transcription	Fetal Brain Female	brain
5	chr17:17817800-17838200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr17:17821200-17829000	Enhancers	NHEK	skin
7	chr17:17822000-17836600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:17823200-17838000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17823200-17838200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:17823400-17836400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr17:17823400-17838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr17:17824000-17829200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:17824600-17831200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr17:17824800-17828600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr17:17824800-17838200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:17825000-17837600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:17825400-17829200	Weak transcription	Fetal Thymus	thymus
18	chr17:17825400-17830400	Weak transcription	Gastric	stomach
19	chr17:17825800-17829200	Weak transcription	Lung	lung
20	chr17:17826000-17830400	Weak transcription	Psoas Muscle	Psoas
21	chr17:17826000-17831000	Weak transcription	Esophagus	oesophagus
22	chr17:17826000-17832400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:17826200-17829200	Weak transcription	Right Atrium	heart
24	chr17:17826200-17830400	Weak transcription	Fetal Brain Male	brain
25	chr17:17826200-17831600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr17:17826200-17833600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:17826200-17837800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:17826200-17838400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr17:17826200-17838400	Weak transcription	Small Intestine	intestine
30	chr17:17826400-17829200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr17:17826400-17829200	Weak transcription	Right Ventricle	heart
32	chr17:17826400-17829800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:17826400-17829800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:17826400-17830000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr17:17826400-17830200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr17:17826400-17830200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:17826400-17830400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:17826400-17830400	Weak transcription	Fetal Lung	lung
39	chr17:17826400-17830400	Weak transcription	K562	blood
40	chr17:17826400-17830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr17:17826400-17830600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:17826400-17831400	Weak transcription	Brain Germinal Matrix	brain
43	chr17:17826400-17831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr17:17826400-17831600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr17:17826400-17831600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:17826400-17831600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:17826400-17831600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr17:17826400-17831600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr17:17826400-17831600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr17:17826400-17831600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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