Variant report

Variant	rs73259504
Chromosome Location	chr5:114194055-114194056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114191563..114193194-chr5:114193379..114196328,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10055666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10061431	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10067801	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10069405	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10070575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10071942	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10074674	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11949059	0.88[EUR][1000 genomes]
rs1453013	0.88[EUR][1000 genomes]
rs17366272	0.96[EUR][1000 genomes]
rs1993925	0.94[EUR][1000 genomes]
rs2086262	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2086263	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2086264	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2218997	0.88[EUR][1000 genomes]
rs2218998	0.88[EUR][1000 genomes]
rs28755443	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34758632	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs36103574	0.88[EUR][1000 genomes]
rs4257758	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4340907	0.98[EUR][1000 genomes]
rs4485917	0.88[EUR][1000 genomes]
rs4485918	0.88[EUR][1000 genomes]
rs4505941	0.84[EUR][1000 genomes]
rs4513688	0.88[EUR][1000 genomes]
rs4518385	0.88[EUR][1000 genomes]
rs4640781	0.88[EUR][1000 genomes]
rs57074641	0.88[EUR][1000 genomes]
rs57315626	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58379915	0.88[EUR][1000 genomes]
rs59147559	0.88[EUR][1000 genomes]
rs60580788	0.88[EUR][1000 genomes]
rs61097458	0.88[EUR][1000 genomes]
rs61389488	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6594841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6594842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6594843	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6594844	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6594848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6859066	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6863152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6867771	0.88[EUR][1000 genomes]
rs6876195	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6876229	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6877494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6881596	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6882425	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6882601	0.83[AMR][1000 genomes]
rs6884508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6885177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6885466	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6885627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6889672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6889860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6890974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6891679	0.82[EUR][1000 genomes]
rs6893595	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6894130	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6895899	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6897194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6898043	0.88[EUR][1000 genomes]
rs73243903	0.88[EUR][1000 genomes]
rs73243944	0.86[EUR][1000 genomes]
rs73243957	0.88[EUR][1000 genomes]
rs73243963	0.88[EUR][1000 genomes]
rs73257550	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73257557	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73257562	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73257596	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73259509	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73259517	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7700555	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7703133	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7706010	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7706171	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7706222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7710516	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7711594	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7730893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7731393	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114193000-114196600	Enhancers	Fetal Brain Male	brain
2	chr5:114193400-114194200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr5:114193400-114194200	Flanking Active TSS	Fetal Brain Female	brain
4	chr5:114193400-114194400	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr5:114193400-114194400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr5:114193400-114194800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:114193400-114195200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr5:114193400-114195400	Enhancers	Fetal Stomach	stomach
9	chr5:114193600-114194200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr5:114193600-114194200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:114193600-114194200	Enhancers	Adipose Nuclei	Adipose
12	chr5:114193600-114194200	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr5:114193600-114194400	Active TSS	Brain Hippocampus Middle	brain
14	chr5:114193800-114194200	Active TSS	Primary B cells from cord blood	blood
15	chr5:114193800-114194200	Active TSS	Primary hematopoietic stem cells	blood
16	chr5:114193800-114194200	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr5:114193800-114194200	Active TSS	Fetal Kidney	kidney
18	chr5:114193800-114194200	Active TSS	Stomach Smooth Muscle	stomach
19	chr5:114193800-114194600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:114194000-114194200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:114194000-114194200	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr5:114194000-114194200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:114194000-114194200	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr5:114194000-114194200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr5:114194000-114194400	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr5:114194000-114194800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr5:114194000-114195800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:114194000-114196000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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