Variant report

Variant	rs1862416
Chromosome Location	chr5:167394595-167394596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:167394580-167394730	HEK293	kidney:	n/a	n/a
2	CTCF	chr5:167394580-167394730	BE2_C	brain:	n/a	n/a
3	CTCF	chr5:167394520-167394670	HAc	cerebellar:	n/a	n/a
4	RAD21	chr5:167394478-167394872	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:167394560-167394710	WERI-Rb-1	eye:	n/a	n/a
6	RAD21	chr5:167394511-167394875	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr5:167394540-167394690	HPF	lung:	n/a	n/a
8	RAD21	chr5:167394521-167394884	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:167394580-167394730	AG10803	skin:	n/a	n/a

Variant related genes	Relation type
ENSG00000253947	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1862415	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2546934	0.88[ASN][1000 genomes]
rs36064369	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7709317	0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830546	chr5:167303135-167456271	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167380600-167394800	Weak transcription	HSMM	muscle
2	chr5:167385800-167407400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:167387800-167400600	Weak transcription	Right Atrium	heart
4	chr5:167388000-167396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:167388200-167394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:167388200-167395000	Weak transcription	Left Ventricle	heart
7	chr5:167388200-167407600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:167391600-167410200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:167391800-167394800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr5:167391800-167394800	Weak transcription	NH-A	brain
11	chr5:167392800-167396800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:167393000-167395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:167393200-167394600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:167393200-167394800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:167393200-167395000	Enhancers	Brain Germinal Matrix	brain
16	chr5:167393400-167394800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr5:167393400-167394800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:167393400-167395200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:167393800-167395000	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr5:167393800-167395000	Enhancers	Right Ventricle	heart
21	chr5:167394000-167395000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:167394000-167395000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:167394000-167395000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:167394000-167395200	Enhancers	Fetal Lung	lung
25	chr5:167394000-167395400	Enhancers	Adipose Nuclei	Adipose
26	chr5:167394200-167394800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:167394200-167394800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:167394200-167394800	Enhancers	Brain Anterior Caudate	brain
29	chr5:167394200-167395000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr5:167394200-167395000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:167394200-167396200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:167394200-167396400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:167394200-167396400	Strong transcription	NHEK	skin
34	chr5:167394400-167394600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:167394400-167394600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:167394400-167395200	Enhancers	Primary hematopoietic stem cells	blood
37	chr5:167394400-167396000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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