Variant report

Variant	rs73979053
Chromosome Location	chr17:16935780-16935781
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16913150..16913949-chr17:16935742..16936397,2	MCF-7	breast:
2	chr17:16905205..16905735-chr17:16935481..16936004,2	MCF-7	breast:
3	chr17:16931293..16933179-chr17:16934223..16937186,2	MCF-7	breast:
4	chr17:16931573..16934044-chr17:16934220..16938314,3	MCF-7	breast:

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs1047805	0.83[AMR][1000 genomes]
rs10852843	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10852844	0.88[AMR][1000 genomes]
rs10852845	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10852846	0.83[AMR][1000 genomes]
rs11078364	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11078365	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078366	0.92[ASN][1000 genomes]
rs11078370	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11078371	0.88[AMR][1000 genomes]
rs11078372	0.88[AMR][1000 genomes]
rs11078373	0.83[AMR][1000 genomes]
rs11078375	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1110504	0.88[AMR][1000 genomes]
rs1110505	0.83[AMR][1000 genomes]
rs11651460	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11651938	0.83[AMR][1000 genomes]
rs11651988	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11652079	0.88[AMR][1000 genomes]
rs11652674	0.84[EUR][1000 genomes]
rs11652678	0.83[AMR][1000 genomes]
rs11652756	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11652936	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11654247	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11654360	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11654562	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11658084	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11658904	0.97[ASN][1000 genomes]
rs12450109	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12450213	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12450238	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12450467	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12451054	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12452303	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12452802	0.88[AMR][1000 genomes]
rs12601325	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12602124	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602129	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602867	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16961288	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16961412	0.80[AMR][1000 genomes]
rs3744125	0.83[AMR][1000 genomes]
rs3744127	0.83[AMR][1000 genomes]
rs3744132	0.83[AMR][1000 genomes]
rs3744133	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3744136	0.83[AMR][1000 genomes]
rs3744140	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3826305	0.81[AMR][1000 genomes]
rs4073940	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074611	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4074612	0.88[AMR][1000 genomes]
rs4074819	0.83[AMR][1000 genomes]
rs4264448	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4275916	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4283273	0.83[AMR][1000 genomes]
rs4606773	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4621033	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985695	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985697	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985698	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4985703	0.83[AMR][1000 genomes]
rs4985712	1.00[ASN][1000 genomes]
rs4985714	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4985715	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4985719	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985723	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4985727	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4985739	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs4985744	0.88[AMR][1000 genomes]
rs4985747	0.83[AMR][1000 genomes]
rs55751545	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56009207	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57812549	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58326998	0.83[AMR][1000 genomes]
rs58472573	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58814183	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59394251	0.83[AMR][1000 genomes]
rs60128647	0.88[AMR][1000 genomes]
rs61018209	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7207187	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7210339	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7217970	0.88[AMR][1000 genomes]
rs7223583	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7223686	0.90[ASN][1000 genomes]
rs7223924	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73979054	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73979055	0.94[AFR][1000 genomes]
rs73979058	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73979060	0.88[AMR][1000 genomes]
rs73979061	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979081	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979082	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73979083	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8064991	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8066111	0.83[AMR][1000 genomes]
rs8067563	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8075751	1.00[ASN][1000 genomes]
rs9910011	1.00[ASN][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	nsv1058863	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv543227	chr17:16812121-16943780	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv907727	chr17:16892265-16938582	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv543231	chr17:16926227-16950644	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv978376	chr17:16934418-16938973	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16930200-16936200	Enhancers	Fetal Muscle Leg	muscle
2	chr17:16930400-16936600	Enhancers	Fetal Muscle Trunk	muscle
3	chr17:16930600-16936000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:16930600-16936200	Enhancers	HMEC	breast
5	chr17:16930600-16937600	Enhancers	HSMMtube	muscle
6	chr17:16930800-16935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:16930800-16936000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:16931000-16936000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:16931400-16936000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:16931600-16936400	Enhancers	Fetal Lung	lung
11	chr17:16932200-16939800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr17:16932400-16940600	Enhancers	HSMM	muscle
13	chr17:16932600-16936000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr17:16932800-16944200	Weak transcription	Fetal Brain Female	brain
15	chr17:16933200-16936400	Enhancers	Brain Hippocampus Middle	brain
16	chr17:16933200-16936600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:16933200-16936800	Weak transcription	Fetal Thymus	thymus
18	chr17:16933400-16936200	Enhancers	Brain Cingulate Gyrus	brain
19	chr17:16933400-16936200	Enhancers	HUVEC	blood vessel
20	chr17:16933600-16935800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:16933600-16936000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr17:16933600-16936000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr17:16933600-16936200	Enhancers	Hela-S3	cervix
24	chr17:16933600-16936200	Enhancers	NH-A	brain
25	chr17:16933800-16936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr17:16933800-16936200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr17:16933800-16936200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:16933800-16936200	Enhancers	Fetal Heart	heart
29	chr17:16933800-16936800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr17:16934000-16936000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:16934000-16936400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:16934200-16936000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:16934200-16936000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:16934200-16936000	Enhancers	Left Ventricle	heart
35	chr17:16934200-16936000	Enhancers	Lung	lung
36	chr17:16934200-16936000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:16934200-16936200	Enhancers	Fetal Stomach	stomach
38	chr17:16934200-16936400	Enhancers	Osteobl	bone
39	chr17:16934200-16937800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr17:16934400-16935800	Enhancers	Aorta	Aorta
41	chr17:16934400-16936000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr17:16934400-16936000	Enhancers	Pancreas	Pancrea
43	chr17:16934400-16936400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr17:16934400-16937400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:16934600-16935800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:16934600-16936200	Enhancers	NHDF-Ad	bronchial
47	chr17:16934600-16936800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr17:16934600-16944600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:16934800-16936200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:16934800-16936200	Enhancers	Brain Substantia Nigra	brain

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