Variant report

Variant	rs1343607
Chromosome Location	chr13:53645448-53645449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12552	0.82[CEU][hapmap]
rs1343605	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1343610	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1343611	0.80[EUR][1000 genomes]
rs1343612	0.85[EUR][1000 genomes]
rs1419216	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1936385	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246208	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2806933	0.91[EUR][1000 genomes]
rs2806946	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2806949	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2806950	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2806971	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2806974	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2806978	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2806982	0.84[EUR][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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53639200-53654800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr13:53643000-53648200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:53643200-53647400	Weak transcription	Brain Anterior Caudate	brain
4	chr13:53643200-53648800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:53643400-53647400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:53643600-53647200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:53643600-53648000	Weak transcription	Brain Germinal Matrix	brain
8	chr13:53643600-53649600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:53643800-53647200	Weak transcription	Brain Angular Gyrus	brain
10	chr13:53643800-53647200	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:53643800-53647200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:53643800-53647400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:53643800-53647400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:53643800-53647600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:53643800-53649800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr13:53644000-53647200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:53644000-53647200	Weak transcription	Brain Substantia Nigra	brain
18	chr13:53644000-53649200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr13:53644400-53647200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:53645400-53648000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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