Variant report

Variant	rs58817414
Chromosome Location	chr3:78738962-78738963
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	chr3:78731540..78733318-chr3:78736558..78739204,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11924995	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11929198	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17016210	1.00[EUR][1000 genomes]
rs17016216	1.00[EUR][1000 genomes]
rs35446711	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36055689	1.00[EUR][1000 genomes]
rs55979517	1.00[EUR][1000 genomes]
rs56413424	1.00[EUR][1000 genomes]
rs57631801	1.00[EUR][1000 genomes]
rs58072251	1.00[EUR][1000 genomes]
rs73848415	1.00[EUR][1000 genomes]
rs73848421	1.00[EUR][1000 genomes]
rs73848424	1.00[EUR][1000 genomes]
rs73848426	1.00[EUR][1000 genomes]
rs73848476	1.00[EUR][1000 genomes]
rs73848774	1.00[EUR][1000 genomes]
rs73848777	1.00[EUR][1000 genomes]
rs73848779	1.00[EUR][1000 genomes]
rs73850721	1.00[EUR][1000 genomes]
rs73850723	1.00[EUR][1000 genomes]
rs7613523	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7618434	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7635295	1.00[EUR][1000 genomes]
rs7651418	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
2	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
3	chr3:78703200-78739200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:78716000-78739600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr3:78717600-78739600	Weak transcription	Osteobl	bone
6	chr3:78717800-78745200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr3:78717800-78748400	Weak transcription	Ovary	ovary
8	chr3:78718600-78739200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:78719600-78753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:78720000-78753200	Weak transcription	Brain Hippocampus Middle	brain
11	chr3:78730400-78752600	Weak transcription	Fetal Stomach	stomach
12	chr3:78731600-78739800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:78733800-78739200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:78733800-78739400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr3:78733800-78744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:78733800-78746600	Weak transcription	Fetal Lung	lung
17	chr3:78733800-78752400	Weak transcription	Fetal Kidney	kidney
18	chr3:78733800-78778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:78734000-78740200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:78735200-78765600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:78736200-78739000	Strong transcription	HepG2	liver
22	chr3:78737000-78740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:78737400-78741200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:78738200-78739000	Enhancers	Fetal Brain Male	brain
25	chr3:78738800-78739000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:78738800-78739600	Weak transcription	Brain Germinal Matrix	brain

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