Variant report

Variant	rs12515924
Chromosome Location	chr5:68258539-68258540
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	chr5:68258288-68259284	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
2	RAD21	chr5:68258533-68259089	A549	lung:	n/a	chr5:68258886-68258905
3	RAD21	chr5:68258502-68259232	A549	lung:	n/a	chr5:68258886-68258905
4	SMC3	chr5:68258401-68259431	SK-N-SH	brain:	n/a	chr5:68258890-68258904
5	CTCF	chr5:68258420-68258570	HCFaa	heart:	n/a	n/a
6	RAD21	chr5:68258509-68259258	HCT-116	colon:	n/a	chr5:68258886-68258905
7	RAD21	chr5:68258531-68259144	A549	lung:	n/a	chr5:68258886-68258905
8	CTCF	chr5:68258408-68259294	SK-N-SH	brain:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
9	RAD21	chr5:68258501-68259144	SK-N-SH_RA	brain:	n/a	chr5:68258886-68258905
10	RAD21	chr5:68257867-68259608	SK-N-SH	brain:	n/a	chr5:68258886-68258905
11	CTCF	chr5:68258532-68259209	HCT-116	colon:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904

Variant related genes	Relation type
ENSG00000250066	TF binding region
ENSG00000249335	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10056163	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10063661	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10064207	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10068972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10071585	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10075860	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10940186	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11750612	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12516903	0.81[AMR][1000 genomes]
rs58355514	0.93[EUR][1000 genomes]
rs62354488	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62354490	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6414814	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6414815	0.95[EUR][1000 genomes]
rs7733467	0.93[EUR][1000 genomes]
rs9291937	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9800367	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];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	nsv830332	chr5:68238288-68282681	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68246200-68262200	Weak transcription	Esophagus	oesophagus
2	chr5:68249400-68258600	Weak transcription	Right Atrium	heart
3	chr5:68254400-68258600	Weak transcription	Fetal Kidney	kidney
4	chr5:68256400-68259200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:68256600-68258600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:68257000-68258600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:68257800-68258600	Enhancers	Adipose Nuclei	Adipose
8	chr5:68257800-68259200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr5:68257800-68259200	Enhancers	Liver	Liver
10	chr5:68258000-68258800	Enhancers	Colon Smooth Muscle	Colon
11	chr5:68258000-68258800	Enhancers	Fetal Heart	heart
12	chr5:68258000-68259200	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:68258000-68261800	Weak transcription	Spleen	Spleen
14	chr5:68258200-68258800	Enhancers	Fetal Muscle Trunk	muscle
15	chr5:68258200-68259000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:68258400-68258600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:68258400-68258600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:68258400-68258600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr5:68258400-68258600	Enhancers	Small Intestine	intestine
20	chr5:68258400-68258600	Enhancers	NHDF-Ad	bronchial
21	chr5:68258400-68258800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr5:68258400-68258800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:68258400-68258800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:68258400-68258800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr5:68258400-68258800	Enhancers	Fetal Lung	lung
26	chr5:68258400-68259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:68258400-68259200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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