Variant report

Variant	rs74086515
Chromosome Location	chr13:53505238-53505239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:53498741..53501031-chr13:53504415..53506150,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17052613	1.00[AMR][1000 genomes]
rs56217013	1.00[AMR][1000 genomes]
rs56740905	1.00[AMR][1000 genomes]
rs57598135	1.00[AMR][1000 genomes]
rs58545123	1.00[AMR][1000 genomes]
rs58732737	1.00[AMR][1000 genomes]
rs60472137	1.00[AMR][1000 genomes]
rs61141148	1.00[AMR][1000 genomes]
rs74086052	1.00[AMR][1000 genomes]
rs74086055	1.00[AMR][1000 genomes]
rs74086507	1.00[AMR][1000 genomes]
rs74086510	1.00[AMR][1000 genomes]
rs74086511	1.00[AMR][1000 genomes]
rs74086514	1.00[AMR][1000 genomes]
rs74086517	1.00[AMR][1000 genomes]
rs74086519	1.00[AMR][1000 genomes]
rs74086523	1.00[AMR][1000 genomes]
rs74086527	1.00[AMR][1000 genomes]
rs74088311	1.00[AMR][1000 genomes]
rs74088318	1.00[AMR][1000 genomes]
rs74088320	1.00[AMR][1000 genomes]
rs74088322	1.00[AMR][1000 genomes]
rs74088323	1.00[AMR][1000 genomes]
rs74088324	1.00[AMR][1000 genomes]
rs74088325	1.00[AMR][1000 genomes]
rs74088330	1.00[AMR][1000 genomes]
rs74088337	1.00[AMR][1000 genomes]
rs74088339	1.00[AMR][1000 genomes]
rs74088358	1.00[AMR][1000 genomes]
rs74088371	1.00[AMR][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	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53498400-53508600	Enhancers	Fetal Muscle Leg	muscle
2	chr13:53499600-53506600	Weak transcription	Fetal Thymus	thymus
3	chr13:53500200-53507000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:53502400-53505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:53503400-53509200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:53503800-53505800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:53504200-53505600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:53504200-53505800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:53504200-53506600	Enhancers	Brain Germinal Matrix	brain
10	chr13:53504400-53505800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:53504400-53506400	Weak transcription	Brain Angular Gyrus	brain
12	chr13:53504400-53507600	Enhancers	Fetal Brain Female	brain
13	chr13:53504600-53505800	Weak transcription	Brain Substantia Nigra	brain
14	chr13:53504600-53506600	Weak transcription	HSMMtube	muscle
15	chr13:53504600-53508600	Enhancers	Fetal Brain Male	brain
16	chr13:53504800-53506000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:53504800-53508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr13:53505000-53505400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr13:53505000-53505400	Weak transcription	Brain Anterior Caudate	brain
20	chr13:53505000-53506600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:53505000-53507200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:53505200-53505400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr13:53505200-53505600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:53505200-53505600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr13:53505200-53505600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:53505200-53506600	Enhancers	Brain Cingulate Gyrus	brain

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