Variant report

Variant	rs59404183
Chromosome Location	chr5:147272112-147272113
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	chr5:147265148..147267409-chr5:147270950..147272492,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248362	Chromatin interaction
ENSG00000251320	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10039761	1.00[EUR][1000 genomes]
rs10040102	1.00[EUR][1000 genomes]
rs10043586	1.00[EUR][1000 genomes]
rs10078349	1.00[EUR][1000 genomes]
rs13353996	1.00[EUR][1000 genomes]
rs13355958	1.00[EUR][1000 genomes]
rs13360178	1.00[EUR][1000 genomes]
rs13360252	1.00[EUR][1000 genomes]
rs28401755	1.00[EUR][1000 genomes]
rs28437385	1.00[EUR][1000 genomes]
rs28478293	1.00[EUR][1000 genomes]
rs28479902	1.00[EUR][1000 genomes]
rs28570984	1.00[EUR][1000 genomes]
rs28588162	1.00[EUR][1000 genomes]
rs28609427	1.00[EUR][1000 genomes]
rs28613022	1.00[EUR][1000 genomes]
rs28684497	1.00[EUR][1000 genomes]
rs28707309	1.00[EUR][1000 genomes]
rs60735175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3334831	chr5:147165950-147339765	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv329560	chr5:147269326-147278710	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147262600-147272600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:147262800-147272200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:147262800-147275600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:147266800-147272200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:147267600-147272800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:147267800-147273000	Weak transcription	Right Ventricle	heart
7	chr5:147268000-147272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:147268000-147272200	Weak transcription	NH-A	brain
9	chr5:147268200-147272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:147268200-147272200	Weak transcription	NHEK	skin
11	chr5:147268200-147272400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:147270400-147273000	Weak transcription	Aorta	Aorta
13	chr5:147271200-147272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:147271400-147274200	Enhancers	Hela-S3	cervix
15	chr5:147271600-147273200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:147271600-147273400	Enhancers	Osteobl	bone
17	chr5:147271600-147274600	Enhancers	HUVEC	blood vessel
18	chr5:147271800-147272200	Enhancers	Placenta	Placenta
19	chr5:147271800-147272800	Enhancers	Stomach Mucosa	stomach
20	chr5:147271800-147273400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:147272000-147273800	Enhancers	HMEC	breast
22	chr5:147272000-147275200	Weak transcription	Placenta Amnion	Placenta Amnion

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