Variant report

Variant	rs1407751
Chromosome Location	chr13:53530940-53530941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12427518	0.86[ASN][1000 genomes]
rs1323105	0.83[ASN][1000 genomes]
rs1407752	0.97[ASN][1000 genomes]
rs1407753	0.97[ASN][1000 genomes]
rs17052924	0.94[ASN][1000 genomes]
rs1885849	0.95[ASN][1000 genomes]
rs2018272	0.94[ASN][1000 genomes]
rs2181473	0.96[ASN][1000 genomes]
rs2408694	0.81[ASN][1000 genomes]
rs4301922	0.97[ASN][1000 genomes]
rs4301923	0.97[ASN][1000 genomes]
rs4301924	0.97[ASN][1000 genomes]
rs4562966	0.97[ASN][1000 genomes]
rs4562967	0.97[ASN][1000 genomes]
rs5026013	0.95[ASN][1000 genomes]
rs57281475	0.86[ASN][1000 genomes]
rs58811753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59849453	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67378042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68176651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320217	0.98[ASN][1000 genomes]
rs7323033	0.98[ASN][1000 genomes]
rs7334665	0.92[ASN][1000 genomes]
rs7337967	0.90[ASN][1000 genomes]
rs9591483	0.94[ASN][1000 genomes]
rs9596729	0.86[ASN][1000 genomes]
rs9652206	0.93[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	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
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53528400-53531200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr13:53528400-53531600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:53528600-53532400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr13:53528800-53531200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:53529200-53531200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:53529600-53531000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:53529600-53531200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr13:53529800-53531400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:53529800-53535600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:53530000-53531200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr13:53530200-53531200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr13:53530200-53531400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr13:53530200-53535000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:53530400-53531000	Enhancers	Primary B cells from cord blood	blood
15	chr13:53530400-53531200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr13:53530400-53531200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:53530400-53531200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:53530400-53535600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:53530600-53531600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr13:53530800-53531200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:53530800-53534400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:53530800-53534600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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