Variant report

Variant	rs1443914
Chromosome Location	chr13:53917230-53917231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1156006	0.81[EUR][1000 genomes]
rs1373276	0.80[AFR][1000 genomes]
rs1373277	0.84[AFR][1000 genomes]
rs1418617	0.83[AFR][1000 genomes]
rs1867370	0.84[ASN][1000 genomes]
rs2408858	0.86[AFR][1000 genomes]
rs2587363	0.89[CEU][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.81[MEX][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4884411	0.84[AFR][1000 genomes]
rs7329909	0.86[AFR][1000 genomes]
rs7981317	0.81[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];0.83[TSI][hapmap];0.91[ASN][1000 genomes]
rs8002970	0.80[AFR][1000 genomes]
rs9527069	0.80[ASN][1000 genomes]
rs9536401	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][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	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2756368	chr13:53824599-53923599	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53914400-53918400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:53916200-53917600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:53916600-53917400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr13:53916600-53918600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:53916800-53917400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
6	chr13:53916800-53917600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:53916800-53917800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr13:53916800-53917800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:53916800-53917800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:53916800-53917800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr13:53917000-53917400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr13:53917000-53917600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
13	chr13:53917000-53917600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr13:53917000-53917600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr13:53917000-53917800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:53917000-53917800	Enhancers	Brain Germinal Matrix	brain
17	chr13:53917200-53917400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
18	chr13:53917200-53917400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr13:53917200-53917600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr13:53917200-53917600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr13:53917200-53917800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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