Variant report

Variant	rs73049415
Chromosome Location	chr3:23633268-23633269
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23628866..23630661-chr3:23631573..23633341,2	MCF-7	breast:
2	chr3:23628100..23630491-chr3:23632731..23635658,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10510538	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12638508	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55737333	0.82[EUR][1000 genomes]
rs57338964	0.85[EUR][1000 genomes]
rs57859482	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58157906	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59180179	0.85[EUR][1000 genomes]
rs59267402	0.82[EUR][1000 genomes]
rs59461083	0.85[EUR][1000 genomes]
rs60378326	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61674523	0.83[EUR][1000 genomes]
rs73038845	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73041601	0.85[EUR][1000 genomes]
rs73043622	0.85[EUR][1000 genomes]
rs73043635	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73043648	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043654	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73043677	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73043684	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73043689	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043697	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73045614	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73045642	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73049445	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73049455	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73049457	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7632099	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv460479	chr3:23626919-23807550	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv589949	chr3:23626919-23807550	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23606000-23643000	Weak transcription	Primary T cells from cord blood	blood
2	chr3:23607000-23640400	Weak transcription	Brain Substantia Nigra	brain
3	chr3:23608600-23634400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr3:23609400-23637800	Weak transcription	HSMMtube	muscle
5	chr3:23617200-23635600	Weak transcription	Fetal Thymus	thymus
6	chr3:23621000-23642800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:23622400-23637800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:23623800-23634400	Weak transcription	Primary B cells from cord blood	blood
9	chr3:23624400-23641600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:23625400-23637800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:23628800-23647200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:23629600-23637600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:23629800-23637800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:23629800-23640800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:23630000-23637800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:23630000-23637800	Weak transcription	Aorta	Aorta
17	chr3:23630600-23641000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:23631400-23633800	Weak transcription	Lung	lung
19	chr3:23631400-23637800	Weak transcription	Esophagus	oesophagus
20	chr3:23631400-23643200	Weak transcription	Left Ventricle	heart
21	chr3:23631600-23637800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:23631600-23637800	Weak transcription	HSMM	muscle
23	chr3:23631800-23637800	Weak transcription	Liver	Liver
24	chr3:23632200-23637800	Weak transcription	Brain Anterior Caudate	brain
25	chr3:23632600-23633400	Enhancers	Fetal Heart	heart
26	chr3:23632600-23640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:23632600-23642400	Weak transcription	Brain Angular Gyrus	brain
28	chr3:23632800-23634800	Enhancers	GM12878-XiMat	blood
29	chr3:23632800-23637800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:23632800-23637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:23632800-23637800	Weak transcription	Adipose Nuclei	Adipose
32	chr3:23632800-23637800	Weak transcription	Ovary	ovary
33	chr3:23632800-23638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr3:23632800-23643200	Weak transcription	Right Ventricle	heart
35	chr3:23632800-23647200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:23633200-23636600	Weak transcription	Fetal Kidney	kidney
37	chr3:23633200-23638000	Weak transcription	Fetal Lung	lung

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