Variant report

Variant	rs560033103
Chromosome Location	chr5:68259010-68259011
allele	C/T
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	chr5:68258588-68259031	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
2	RAD21	chr5:68258751-68259061	GM12878	blood:	n/a	chr5:68258886-68258905
3	RAD21	chr5:68258624-68259155	ECC-1	luminal epithelium:	n/a	chr5:68258886-68258905
4	CTCF	chr5:68258688-68259108	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
5	RAD21	chr5:68258632-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
6	CTCF	chr5:68258687-68259114	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
7	CTCF	chr5:68258860-68259010	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
8	CTCF	chr5:68258797-68259027	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
9	CTCF	chr5:68258880-68259030	GM12866	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
10	CTCF	chr5:68258790-68259034	GM19240	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
11	CTCF	chr5:68258288-68259284	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
12	CTCF	chr5:68258775-68259018	Spleen_OC	spleen:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
13	CTCF	chr5:68258880-68259030	GM12870	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
14	ZNF143	chr5:68258776-68259068	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr5:68258761-68259021	SK-N-SH_RA	brain:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
16	CTCF	chr5:68258774-68259045	NHEK	skin:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
17	CTCF	chr5:68258900-68259050	NHEK	skin:	n/a	n/a
18	RAD21	chr5:68258533-68259089	A549	lung:	n/a	chr5:68258886-68258905
19	BACH1	chr5:68258751-68259013	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr5:68258627-68259127	HepG2	liver:	n/a	chr5:68258886-68258905
21	RAD21	chr5:68258502-68259232	A549	lung:	n/a	chr5:68258886-68258905
22	CTCF	chr5:68258790-68259042	ProgFib	skin:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
23	E2F4	chr5:68258748-68259081	MCF10A-Er-Src	breast:	n/a	n/a
24	CTCF	chr5:68258813-68259029	H1-hESC	embryonic stem cell:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
25	SMC3	chr5:68258626-68259099	GM12878	blood:	n/a	chr5:68258890-68258904
26	SMC3	chr5:68258646-68259105	Hela-S3	cervix:	n/a	chr5:68258890-68258904
27	CTCF	chr5:68258692-68259113	H1-hESC	embryonic stem cell:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
28	ZNF143	chr5:68258727-68259055	GM12878	blood:	n/a	n/a
29	RAD21	chr5:68258649-68259103	Hela-S3	cervix:	n/a	chr5:68258886-68258905
30	CTCF	chr5:68258794-68259038	GM12891	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
31	CTCF	chr5:68258779-68259026	HepG2	liver:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
32	RAD21	chr5:68258542-68259245	MCF-7	breast:	n/a	chr5:68258886-68258905
33	CTCF	chr5:68258860-68259010	HCM	heart:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
34	CTCF	chr5:68258787-68259034	GM12892	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
35	RAD21	chr5:68258636-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
36	RAD21	chr5:68258741-68259053	GM12878	blood:	n/a	chr5:68258886-68258905
37	CTCF	chr5:68258643-68259129	MCF-7	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
38	ZC3H11A	chr5:68258812-68259010	K562	blood:	n/a	n/a
39	CTCF	chr5:68258658-68259060	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
40	CTCF	chr5:68258703-68259159	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
41	SMC3	chr5:68258401-68259431	SK-N-SH	brain:	n/a	chr5:68258890-68258904
42	CTCF	chr5:68258860-68259010	BJ	skin:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
43	ZKSCAN1	chr5:68258574-68259010	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr5:68258822-68259067	K562	blood:	n/a	n/a
45	UBTF	chr5:68258782-68259096	K562	blood:	n/a	n/a
46	MYC	chr5:68258766-68259140	K562	blood:	n/a	n/a
47	CTCF	chr5:68258696-68259080	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
48	CTCF	chr5:68258777-68259013	Pancreas_OC	pancreas:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
49	CTCF	chr5:68258710-68259043	T-47D	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
50	CTCF	chr5:68258720-68259012	A549	lung:	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: 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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