Variant report

Variant	rs62059044
Chromosome Location	chr17:20978442-20978443
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:20978344-20979338	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20945081..20946975-chr17:20977451..20979833,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236819	TF binding region
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11204332	0.88[ASN][1000 genomes]
rs11655985	0.84[EUR][1000 genomes]
rs11656874	0.84[EUR][1000 genomes]
rs11657155	0.84[EUR][1000 genomes]
rs11870338	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12150041	0.86[ASN][1000 genomes]
rs4985976	0.86[ASN][1000 genomes]
rs62059000	0.88[EUR][1000 genomes]
rs62059001	0.91[EUR][1000 genomes]
rs7218954	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20970200-20978600	Weak transcription	HSMMtube	muscle
2	chr17:20975000-20983400	Enhancers	Fetal Brain Male	brain
3	chr17:20975400-20979000	Enhancers	Fetal Muscle Trunk	muscle
4	chr17:20976200-20979000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:20976200-20989000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:20976400-20978800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:20977600-20978600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:20977600-20978800	Weak transcription	Fetal Brain Female	brain
9	chr17:20977600-20979000	Enhancers	Rectal Smooth Muscle	rectum
10	chr17:20977800-20979000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr17:20978000-20978600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr17:20978000-20978600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:20978000-20981400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:20978000-20983200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:20978200-20978600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr17:20978200-20979000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:20978200-20979000	Enhancers	Fetal Muscle Leg	muscle
18	chr17:20978400-20978600	Enhancers	Brain Cingulate Gyrus	brain
19	chr17:20978400-20978600	Enhancers	Brain Substantia Nigra	brain
20	chr17:20978400-20978600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr17:20978400-20978600	Flanking Active TSS	HSMM	muscle
22	chr17:20978400-20979000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr17:20978400-20979000	Active TSS	Brain Germinal Matrix	brain
24	chr17:20978400-20979000	Enhancers	Colon Smooth Muscle	Colon
25	chr17:20978400-20979000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr17:20978400-20979400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr17:20978400-20979400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:20978400-20979400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:20978400-20979400	Active TSS	Brain Angular Gyrus	brain
30	chr17:20978400-20979400	Enhancers	Fetal Stomach	stomach
31	chr17:20978400-20979600	Active TSS	Brain Hippocampus Middle	brain
32	chr17:20978400-20979600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:20978400-20979600	Enhancers	NH-A	brain
34	chr17:20978400-20980000	Active TSS	Brain Anterior Caudate	brain
35	chr17:20978400-20980000	Active TSS	Brain Inferior Temporal Lobe	brain

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