Variant report

Variant	rs73901583
Chromosome Location	chr20:23042004-23042005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23040959..23043316-chr20:23054663..23056939,2	K562	blood:
2	chr20:23036142..23038357-chr20:23040495..23043468,2	K562	blood:
3	chr20:23037834..23043617-chr20:23045683..23049258,6	MCF-7	breast:
4	chr20:23041795..23043675-chr20:23045042..23047650,2	K562	blood:
5	chr20:23041745..23043295-chr20:23045027..23046542,2	K562	blood:
6	chr20:23039939..23042121-chr20:23116423..23118513,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1331081	1.00[AMR][1000 genomes]
rs1537133	1.00[AMR][1000 genomes]
rs55783247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55964438	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56978650	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57610255	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053572	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7266993	1.00[AMR][1000 genomes]
rs73901579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901586	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901588	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73901591	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8123988	1.00[AMR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23038400-23046600	Enhancers	Fetal Lung	lung
2	chr20:23039600-23043400	Enhancers	Dnd41	blood
3	chr20:23039800-23046000	Enhancers	Fetal Muscle Leg	muscle
4	chr20:23040000-23042400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr20:23040200-23042400	Enhancers	Lung	lung
6	chr20:23040200-23043600	Enhancers	Placenta	Placenta
7	chr20:23040200-23043800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr20:23040200-23043800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr20:23040200-23046800	Enhancers	Fetal Stomach	stomach
10	chr20:23040400-23043200	Enhancers	Brain Substantia Nigra	brain
11	chr20:23040400-23043400	Enhancers	Adipose Nuclei	Adipose
12	chr20:23040400-23043600	Enhancers	Left Ventricle	heart
13	chr20:23040400-23043600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr20:23040400-23044400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr20:23040400-23044600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr20:23040400-23044800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr20:23040400-23044800	Enhancers	HUVEC	blood vessel
18	chr20:23040600-23042200	Enhancers	Small Intestine	intestine
19	chr20:23040600-23042600	Flanking Active TSS	HSMMtube	muscle
20	chr20:23040600-23043400	Enhancers	Right Atrium	heart
21	chr20:23040600-23043600	Enhancers	Ovary	ovary
22	chr20:23040600-23043600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr20:23040600-23044000	Enhancers	NHDF-Ad	bronchial
24	chr20:23040800-23042200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr20:23040800-23043000	Weak transcription	Esophagus	oesophagus
26	chr20:23040800-23044600	Enhancers	Fetal Kidney	kidney
27	chr20:23041000-23043200	Enhancers	Colon Smooth Muscle	Colon
28	chr20:23041200-23042200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr20:23041200-23042400	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr20:23041200-23043600	Enhancers	NHLF	lung
31	chr20:23041400-23042400	Enhancers	Fetal Thymus	thymus
32	chr20:23041400-23042600	Enhancers	A549	lung
33	chr20:23041400-23043200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr20:23041400-23043200	Enhancers	Spleen	Spleen
35	chr20:23041600-23042400	Enhancers	Colonic Mucosa	Colon
36	chr20:23041600-23042600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr20:23041600-23042600	Enhancers	Brain Angular Gyrus	brain
38	chr20:23041600-23043000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr20:23041600-23043200	Enhancers	Brain Hippocampus Middle	brain
40	chr20:23041600-23043400	Enhancers	Psoas Muscle	Psoas
41	chr20:23041600-23043600	Enhancers	K562	blood
42	chr20:23041600-23044000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr20:23041800-23042800	Flanking Active TSS	HSMM	muscle
44	chr20:23041800-23043200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr20:23041800-23043400	Enhancers	Brain Anterior Caudate	brain
46	chr20:23041800-23043400	Enhancers	Rectal Smooth Muscle	rectum
47	chr20:23041800-23043400	Enhancers	Osteobl	bone
48	chr20:23041800-23043600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr20:23041800-23043600	Enhancers	NH-A	brain
50	chr20:23041800-23044200	Enhancers	Fetal Muscle Trunk	muscle

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