Variant report

Variant	rs73450281
Chromosome Location	chr6:45536219-45536220
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58116380	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60938436	1.00[EUR][1000 genomes]
rs73448149	1.00[EUR][1000 genomes]
rs73455393	1.00[EUR][1000 genomes]
rs7759853	1.00[EUR][1000 genomes]
rs9463101	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9463104	1.00[EUR][1000 genomes]
rs9472510	1.00[EUR][1000 genomes]
rs961035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv427755	chr6:45474631-45627025	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv603009	chr6:45530471-45543530	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv462940	chr6:45532214-45545975	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv603010	chr6:45532214-45545975	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45522000-45536800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:45524800-45537000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:45531000-45537000	Weak transcription	Ovary	ovary
4	chr6:45531000-45537200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:45532400-45537000	Weak transcription	Fetal Heart	heart
6	chr6:45533800-45537400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:45534000-45537600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr6:45534200-45537800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:45534200-45538000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:45534400-45537600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:45534400-45538000	Enhancers	HMEC	breast
12	chr6:45534600-45537800	Enhancers	NHEK	skin
13	chr6:45535000-45536400	Weak transcription	Esophagus	oesophagus
14	chr6:45535000-45537000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:45535000-45537000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr6:45535000-45537200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:45535200-45537000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:45535200-45537000	Weak transcription	HSMM	muscle
19	chr6:45535400-45536800	Weak transcription	HSMMtube	muscle
20	chr6:45535400-45537200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:45535400-45537200	Weak transcription	NH-A	brain
22	chr6:45535400-45539000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:45536000-45536800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:45536000-45538000	Enhancers	Dnd41	blood
25	chr6:45536200-45536400	Enhancers	Psoas Muscle	Psoas
26	chr6:45536200-45537600	Enhancers	Left Ventricle	heart
27	chr6:45536200-45537600	Enhancers	Right Atrium	heart

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