Variant report

Variant	rs545512153
Chromosome Location	chr5:68259093-68259094
allele	A/C
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	RAD21	chr5:68258624-68259155	ECC-1	luminal epithelium:	n/a	chr5:68258886-68258905
2	CTCF	chr5:68258688-68259108	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
3	RAD21	chr5:68258632-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
4	CTCF	chr5:68258687-68259114	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
5	CTCF	chr5:68258288-68259284	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
6	RAD21	chr5:68258627-68259127	HepG2	liver:	n/a	chr5:68258886-68258905
7	RAD21	chr5:68258502-68259232	A549	lung:	n/a	chr5:68258886-68258905
8	SMC3	chr5:68258626-68259099	GM12878	blood:	n/a	chr5:68258890-68258904
9	SMC3	chr5:68258646-68259105	Hela-S3	cervix:	n/a	chr5:68258890-68258904
10	CTCF	chr5:68258692-68259113	H1-hESC	embryonic stem cell:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
11	RAD21	chr5:68258649-68259103	Hela-S3	cervix:	n/a	chr5:68258886-68258905
12	RAD21	chr5:68258542-68259245	MCF-7	breast:	n/a	chr5:68258886-68258905
13	RAD21	chr5:68258636-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
14	CTCF	chr5:68258643-68259129	MCF-7	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
15	CTCF	chr5:68258703-68259159	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
16	SMC3	chr5:68258401-68259431	SK-N-SH	brain:	n/a	chr5:68258890-68258904
17	UBTF	chr5:68258782-68259096	K562	blood:	n/a	n/a
18	MYC	chr5:68258766-68259140	K562	blood:	n/a	n/a
19	STAT3	chr5:68258849-68259139	MCF10A-Er-Src	breast:	n/a	chr5:68258874-68258885
20	RAD21	chr5:68258509-68259258	HCT-116	colon:	n/a	chr5:68258886-68258905
21	CTCF	chr5:68258648-68259200	HCT-116	colon:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
22	CTCF	chr5:68258689-68259111	T-47D	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
23	SMC3	chr5:68258702-68259096	HepG2	liver:	n/a	chr5:68258890-68258904
24	RAD21	chr5:68258615-68259164	ECC-1	luminal epithelium:	n/a	chr5:68258886-68258905
25	RAD21	chr5:68258531-68259144	A549	lung:	n/a	chr5:68258886-68258905
26	RAD21	chr5:68258561-68259093	HepG2	liver:	n/a	chr5:68258886-68258905
27	CTCF	chr5:68258681-68259188	IMR90	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
28	RAD21	chr5:68258574-68259160	MCF-7	breast:	n/a	chr5:68258886-68258905
29	CTCF	chr5:68258408-68259294	SK-N-SH	brain:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
30	RAD21	chr5:68258501-68259144	SK-N-SH_RA	brain:	n/a	chr5:68258886-68258905
31	CTCF	chr5:68258624-68259133	MCF-7	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
32	RAD21	chr5:68258600-68259231	HCT-116	colon:	n/a	chr5:68258886-68258905
33	RAD21	chr5:68258567-68259198	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
34	RAD21	chr5:68257867-68259608	SK-N-SH	brain:	n/a	chr5:68258886-68258905
35	CTCF	chr5:68258532-68259209	HCT-116	colon:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
36	RAD21	chr5:68258634-68259107	IMR90	lung:	n/a	chr5:68258886-68258905

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC30A5-1	chr5:68259073-68259310	XLOC_004417

Variant related genes	Relation type
ENSG00000249335	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	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
2	esv3421637	chr5:68258596-68263994	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68246200-68262200	Weak transcription	Esophagus	oesophagus
2	chr5:68256400-68259200	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr5:68257800-68259200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:68257800-68259200	Enhancers	Liver	Liver
5	chr5:68258000-68259200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr5:68258000-68261800	Weak transcription	Spleen	Spleen
7	chr5:68258400-68259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:68258400-68259200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:68258600-68259200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:68258600-68259200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:68258600-68259200	Enhancers	Brain Angular Gyrus	brain
12	chr5:68258600-68259200	Enhancers	Brain Cingulate Gyrus	brain
13	chr5:68258600-68259200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr5:68258600-68259200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:68258600-68259200	Enhancers	Fetal Intestine Small	intestine
16	chr5:68258800-68259200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:68258800-68259200	Enhancers	Adipose Nuclei	Adipose
18	chr5:68258800-68260000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:68258800-68260400	Weak transcription	Fetal Kidney	kidney
20	chr5:68258800-68260400	Weak transcription	Fetal Lung	lung
21	chr5:68258800-68262000	Weak transcription	Brain Substantia Nigra	brain
22	chr5:68258800-68262000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:68259000-68259200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr5:68259000-68259200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:68259000-68259200	Active TSS	Brain Hippocampus Middle	brain
26	chr5:68259000-68259200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr5:68259000-68259200	Flanking Active TSS	NHDF-Ad	bronchial
28	chr5:68259000-68259200	Enhancers	Osteobl	bone

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