Variant report

Variant	rs73456417
Chromosome Location	chr13:38218062-38218063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs58075371	1.00[EUR][1000 genomes]
rs6563568	1.00[EUR][1000 genomes]
rs7335337	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73454515	1.00[EUR][1000 genomes]
rs73454519	1.00[EUR][1000 genomes]
rs73456419	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73464453	1.00[EUR][1000 genomes]
rs9547990	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38207600-38224000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr13:38208000-38220600	Weak transcription	NH-A	brain
3	chr13:38208200-38219200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr13:38209400-38219000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:38209400-38219200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:38210000-38219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:38211400-38221200	Weak transcription	NHDF-Ad	bronchial
8	chr13:38211400-38275600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:38211600-38221200	Weak transcription	Ovary	ovary
10	chr13:38212400-38219200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr13:38213000-38219200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr13:38215000-38219200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:38215400-38219200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:38215600-38219200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr13:38215600-38219600	Weak transcription	Fetal Brain Male	brain
16	chr13:38216000-38218200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:38216000-38219000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:38216000-38219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:38216000-38219600	Weak transcription	Fetal Brain Female	brain
20	chr13:38216200-38219200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr13:38216200-38219200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:38216200-38219200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr13:38217600-38218200	Strong transcription	Osteobl	bone

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