Variant report

Variant	rs73480562
Chromosome Location	chr11:57404406-57404407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1532584	0.82[AFR][1000 genomes]
rs73480542	0.90[AFR][1000 genomes]
rs73480547	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57384400-57404800	Weak transcription	Fetal Lung	lung
2	chr11:57387600-57405200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:57398600-57405200	Weak transcription	Liver	Liver
4	chr11:57401000-57405000	Weak transcription	Right Atrium	heart
5	chr11:57401600-57404600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:57402800-57404600	Weak transcription	Placenta	Placenta
7	chr11:57402800-57404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:57402800-57405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:57403000-57404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:57403000-57404800	Weak transcription	NHEK	skin
11	chr11:57403000-57405000	Weak transcription	HMEC	breast
12	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
13	chr11:57403200-57404800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:57403800-57404800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr11:57403800-57404800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr11:57403800-57404800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:57403800-57405000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:57404000-57404600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:57404000-57404800	Weak transcription	Right Ventricle	heart
20	chr11:57404000-57405000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:57404000-57405000	Enhancers	Fetal Thymus	thymus
22	chr11:57404200-57404800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:57404200-57404800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:57404200-57404800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:57404200-57404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:57404200-57405000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:57404200-57405000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr11:57404400-57404800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr11:57404400-57405000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:57404400-57405000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:57404400-57405000	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:57404400-57405000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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