Variant report

Variant	rs72821992
Chromosome Location	chr5:179598221-179598222
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179598097..179600752-chr5:179603179..179605823,2	K562	blood:
2	chr5:179598082..179600622-chr5:179601152..179603406,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72813683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72821975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
2	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
4	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
5	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv883288	chr5:179537727-179608656	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv1030036	chr5:179543546-179610871	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv830562	chr5:179555313-179622441	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv525160	chr5:179597647-179611713	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv883289	chr5:179597647-179639885	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179595800-179600000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179596200-179598400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:179596200-179598400	Enhancers	Primary hematopoietic stem cells	blood
4	chr5:179596400-179602200	Enhancers	Fetal Brain Male	brain
5	chr5:179596800-179598600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:179596800-179600200	Enhancers	Fetal Heart	heart
7	chr5:179596800-179602400	Enhancers	Placenta	Placenta
8	chr5:179596800-179604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:179597000-179601600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:179597200-179600000	Enhancers	Right Ventricle	heart
11	chr5:179597200-179601800	Enhancers	Brain Angular Gyrus	brain
12	chr5:179597200-179602800	Weak transcription	Right Atrium	heart
13	chr5:179597400-179598600	Weak transcription	Left Ventricle	heart
14	chr5:179597400-179599200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr5:179597400-179602000	Enhancers	Brain Substantia Nigra	brain
16	chr5:179597400-179607600	Weak transcription	Gastric	stomach
17	chr5:179597400-179608800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:179597600-179599200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:179597600-179599400	Weak transcription	Fetal Brain Female	brain
20	chr5:179597600-179599400	Weak transcription	Fetal Lung	lung
21	chr5:179597600-179600000	Enhancers	Brain Germinal Matrix	brain
22	chr5:179597600-179602000	Enhancers	Brain Cingulate Gyrus	brain
23	chr5:179597600-179604000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr5:179597800-179598400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:179597800-179598800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:179597800-179599000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:179597800-179599400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr5:179597800-179601800	Enhancers	Brain Anterior Caudate	brain
29	chr5:179597800-179601800	Enhancers	Brain Hippocampus Middle	brain
30	chr5:179597800-179604000	Weak transcription	Ovary	ovary
31	chr5:179597800-179605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:179598000-179599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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