Variant report

Variant	rs73023589
Chromosome Location	chr5:5307682-5307683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:5302322..5304229-chr5:5305054..5307757,2	K562	blood:
2	chr5:5304478..5306308-chr5:5307574..5310216,2	MCF-7	breast:
3	chr5:5299522..5301081-chr5:5306914..5308790,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73023577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7727062	1.00[AMR][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	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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
2	nsv1032719	chr5:5102763-5387406	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537621	chr5:5102763-5387406	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1793859	chr5:5298350-5309672	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:5304000-5307800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:5304800-5312200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr5:5305000-5311400	Strong transcription	Ovary	ovary
5	chr5:5305600-5308200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:5305600-5308200	Enhancers	Fetal Lung	lung
7	chr5:5305600-5309800	Weak transcription	Right Atrium	heart
8	chr5:5305600-5312000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr5:5305600-5312800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr5:5305600-5312800	Weak transcription	Psoas Muscle	Psoas
11	chr5:5305600-5314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:5305600-5319400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:5305600-5326200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr5:5305800-5307800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:5305800-5309800	Weak transcription	Pancreas	Pancrea
16	chr5:5305800-5321400	Weak transcription	Fetal Kidney	kidney
17	chr5:5306000-5308000	Enhancers	Fetal Muscle Leg	muscle
18	chr5:5306000-5309800	Weak transcription	Esophagus	oesophagus
19	chr5:5306200-5307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:5306400-5312800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:5306600-5307800	Enhancers	Fetal Stomach	stomach
22	chr5:5306600-5308000	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:5306600-5308000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr5:5306600-5308200	Enhancers	Fetal Brain Male	brain
25	chr5:5307000-5308000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:5307000-5308400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr5:5307000-5311400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:5307400-5308400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr5:5307400-5308400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:5307400-5308600	Weak transcription	NHEK	skin
31	chr5:5307400-5313000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:5307600-5308200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:5307600-5312200	Weak transcription	NH-A	brain
34	chr5:5307600-5312800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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