Variant report

Variant	rs4445773
Chromosome Location	chr13:39376800-39376801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4375543	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4471556	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4943605	0.82[EUR][1000 genomes]
rs59898069	0.81[ASN][1000 genomes]
rs9548459	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9576616	0.85[EUR][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	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4445773	FREM2	cis	intralobular white matter	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39359600-39376800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr13:39360400-39377600	Weak transcription	Fetal Kidney	kidney
3	chr13:39369800-39379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:39371600-39376800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr13:39372400-39377400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:39373800-39377400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:39375400-39377400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:39375400-39377600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:39376000-39376800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:39376000-39388800	Weak transcription	Gastric	stomach
11	chr13:39376200-39376800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:39376400-39377200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr13:39376400-39377400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:39376600-39377400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:39376600-39377600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr13:39376600-39379600	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:39376600-39380600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:39376800-39377000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr13:39376800-39377000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:39376800-39377400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:39376800-39377600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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