Variant report

Variant	rs72720941
Chromosome Location	chr1:180514663-180514664
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	chr1:180511669..180514906-chr1:180530245..180533112,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10494531	1.00[ASN][1000 genomes]
rs12073348	0.83[ASN][1000 genomes]
rs12723609	1.00[ASN][1000 genomes]
rs12735662	1.00[ASN][1000 genomes]
rs12754682	1.00[ASN][1000 genomes]
rs17301118	1.00[ASN][1000 genomes]
rs17301132	1.00[ASN][1000 genomes]
rs17373022	1.00[ASN][1000 genomes]
rs17373133	1.00[ASN][1000 genomes]
rs3845400	1.00[ASN][1000 genomes]
rs3845401	1.00[ASN][1000 genomes]
rs55912749	0.83[EUR][1000 genomes]
rs6663339	1.00[ASN][1000 genomes]
rs72720928	0.83[EUR][1000 genomes]
rs72720930	0.83[EUR][1000 genomes]
rs72720943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720953	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720958	1.00[ASN][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS 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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180507000-180514800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:180510200-180516000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:180510400-180529400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:180511600-180516200	Weak transcription	Psoas Muscle	Psoas
5	chr1:180511800-180521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180512000-180515800	Weak transcription	Left Ventricle	heart
7	chr1:180512200-180516200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:180512200-180516600	Weak transcription	Fetal Brain Female	brain
9	chr1:180512200-180521200	Weak transcription	HSMMtube	muscle
10	chr1:180512400-180515800	Weak transcription	Right Atrium	heart
11	chr1:180512400-180517800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:180512600-180516200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:180512600-180516200	Weak transcription	Brain Germinal Matrix	brain
14	chr1:180512800-180517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:180513000-180518000	Weak transcription	Fetal Brain Male	brain
16	chr1:180513200-180517400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:180513400-180516200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:180513600-180516400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:180513600-180521200	Weak transcription	Right Ventricle	heart
20	chr1:180514600-180515000	Weak transcription	Fetal Heart	heart

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