Variant report

Variant	rs189462258
Chromosome Location	chr5:5304533-5304534
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5304478..5306308-chr5:5307574..5310216,2	MCF-7	breast:
2	chr5:5304202..5306167-chr5:5310492..5313032,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3352829	chr5:5304052-5306650	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5302400-5304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr5:5302400-5305000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:5302400-5305000	Weak transcription	Ovary	ovary
4	chr5:5302400-5305000	Weak transcription	NH-A	brain
5	chr5:5302400-5312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:5302600-5305200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:5302600-5307400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:5302800-5305000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:5302800-5307000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:5303200-5304600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:5303200-5305400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:5303800-5305200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:5303800-5305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:5304000-5305000	Enhancers	Fetal Muscle Leg	muscle
15	chr5:5304000-5307800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr5:5304200-5304600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr5:5304200-5304800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:5304200-5305000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr5:5304400-5304600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:5304400-5305400	Enhancers	Liver	Liver
21	chr5:5304400-5305600	Enhancers	Psoas Muscle	Psoas

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