Variant report

Variant	rs73824446
Chromosome Location	chr4:75125275-75125276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75124334..75127975-chr4:75147199..75149454,4	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1460005	1.00[EUR][1000 genomes]
rs16850793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850798	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850813	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850818	1.00[EUR][1000 genomes]
rs16850842	1.00[EUR][1000 genomes]
rs16850845	1.00[EUR][1000 genomes]
rs16850847	1.00[EUR][1000 genomes]
rs16850852	1.00[EUR][1000 genomes]
rs16850933	1.00[EUR][1000 genomes]
rs16850945	1.00[EUR][1000 genomes]
rs1993664	1.00[EUR][1000 genomes]
rs56192801	1.00[EUR][1000 genomes]
rs57516973	1.00[EUR][1000 genomes]
rs58215609	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58398242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59142088	1.00[EUR][1000 genomes]
rs59172186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59175703	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60181583	1.00[EUR][1000 genomes]
rs60560556	1.00[EUR][1000 genomes]
rs61119489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6830535	1.00[EUR][1000 genomes]
rs6836879	1.00[EUR][1000 genomes]
rs725142	1.00[EUR][1000 genomes]
rs73824433	1.00[EUR][1000 genomes]
rs73824435	1.00[EUR][1000 genomes]
rs73824447	1.00[EUR][1000 genomes]
rs73824448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824453	1.00[EUR][1000 genomes]
rs73824457	1.00[EUR][1000 genomes]
rs73824458	1.00[EUR][1000 genomes]
rs73824469	1.00[EUR][1000 genomes]
rs922136	1.00[EUR][1000 genomes]
rs9685225	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75119800-75125800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:75119800-75133200	Weak transcription	NHEK	skin
3	chr4:75119800-75148800	Weak transcription	Aorta	Aorta
4	chr4:75120000-75141200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:75122600-75126400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:75123800-75131000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:75124000-75125600	Enhancers	Fetal Heart	heart
8	chr4:75124200-75133600	Weak transcription	Primary T cells from cord blood	blood
9	chr4:75124600-75125400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:75124800-75126000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:75124800-75126000	Enhancers	Esophagus	oesophagus
12	chr4:75124800-75126400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:75125000-75125400	Weak transcription	Right Ventricle	heart
14	chr4:75125000-75126200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:75125200-75126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:75125200-75128200	Weak transcription	Fetal Lung	lung
17	chr4:75125200-75132000	Weak transcription	HMEC	breast
18	chr4:75125200-75142600	Weak transcription	K562	blood
19	chr4:75125200-75158800	Weak transcription	Left Ventricle	heart

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