Variant report

Variant	rs73771636
Chromosome Location	chr5:68258720-68258721
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	chr5:68258624-68259155	ECC-1	luminal epithelium:	n/a	chr5:68258886-68258905
3	CTCF	chr5:68258688-68259108	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
4	RAD21	chr5:68258632-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
5	CTCF	chr5:68258687-68259114	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
6	CTCF	chr5:68258288-68259284	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
7	RAD21	chr5:68258533-68259089	A549	lung:	n/a	chr5:68258886-68258905
8	RAD21	chr5:68258627-68259127	HepG2	liver:	n/a	chr5:68258886-68258905
9	RAD21	chr5:68258502-68259232	A549	lung:	n/a	chr5:68258886-68258905
10	SMC3	chr5:68258626-68259099	GM12878	blood:	n/a	chr5:68258890-68258904
11	SMC3	chr5:68258646-68259105	Hela-S3	cervix:	n/a	chr5:68258890-68258904
12	CTCF	chr5:68258692-68259113	H1-hESC	embryonic stem cell:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
13	RAD21	chr5:68258649-68259103	Hela-S3	cervix:	n/a	chr5:68258886-68258905
14	RAD21	chr5:68258542-68259245	MCF-7	breast:	n/a	chr5:68258886-68258905
15	RAD21	chr5:68258636-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
16	CTCF	chr5:68258643-68259129	MCF-7	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
17	CTCF	chr5:68258658-68259060	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
18	CTCF	chr5:68258703-68259159	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
19	SMC3	chr5:68258401-68259431	SK-N-SH	brain:	n/a	chr5:68258890-68258904
20	CTCF	chr5:68258679-68258996	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
21	ZKSCAN1	chr5:68258574-68259010	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr5:68258696-68259080	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
23	CTCF	chr5:68258710-68259043	T-47D	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
24	CTCF	chr5:68258720-68259012	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
25	RAD21	chr5:68258509-68259258	HCT-116	colon:	n/a	chr5:68258886-68258905
26	CTCF	chr5:68258648-68259200	HCT-116	colon:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
27	CTCF	chr5:68258689-68259111	T-47D	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
28	SMC3	chr5:68258702-68259096	HepG2	liver:	n/a	chr5:68258890-68258904
29	RAD21	chr5:68258667-68259068	HepG2	liver:	n/a	chr5:68258886-68258905
30	RAD21	chr5:68258615-68259164	ECC-1	luminal epithelium:	n/a	chr5:68258886-68258905
31	RAD21	chr5:68258531-68259144	A549	lung:	n/a	chr5:68258886-68258905
32	RAD21	chr5:68258561-68259093	HepG2	liver:	n/a	chr5:68258886-68258905
33	RAD21	chr5:68258550-68259040	SK-N-SH_RA	brain:	n/a	chr5:68258886-68258905
34	CTCF	chr5:68258681-68259188	IMR90	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
35	RAD21	chr5:68258685-68259082	GM12878	blood:	n/a	chr5:68258886-68258905
36	RAD21	chr5:68258574-68259160	MCF-7	breast:	n/a	chr5:68258886-68258905
37	CTCF	chr5:68258408-68259294	SK-N-SH	brain:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
38	RAD21	chr5:68258501-68259144	SK-N-SH_RA	brain:	n/a	chr5:68258886-68258905
39	CTCF	chr5:68258624-68259133	MCF-7	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
40	RAD21	chr5:68258600-68259231	HCT-116	colon:	n/a	chr5:68258886-68258905
41	RAD21	chr5:68258567-68259198	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
42	RAD21	chr5:68257867-68259608	SK-N-SH	brain:	n/a	chr5:68258886-68258905
43	CTCF	chr5:68258653-68259071	HepG2	liver:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
44	CTCF	chr5:68258532-68259209	HCT-116	colon:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
45	RAD21	chr5:68258634-68259107	IMR90	lung:	n/a	chr5:68258886-68258905
46	RFX5	chr5:68258696-68259012	Hela-S3	cervix:	n/a	n/a

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

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs55634648	1.00[AMR][1000 genomes]
rs55657218	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56079800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56677912	0.90[AFR][1000 genomes]
rs58052452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59802548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771640	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73771646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772085	0.80[AFR][1000 genomes]
rs73772087	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772098	1.00[AMR][1000 genomes]
rs73772444	1.00[AMR][1000 genomes]
rs73772450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772456	1.00[AMR][1000 genomes]
rs73772457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73772461	1.00[AFR][1000 genomes];1.00[AMR][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	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:45 , 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	chr5:68258000-68258800	Enhancers	Colon Smooth Muscle	Colon
6	chr5:68258000-68258800	Enhancers	Fetal Heart	heart
7	chr5:68258000-68259200	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr5:68258000-68261800	Weak transcription	Spleen	Spleen
9	chr5:68258200-68258800	Enhancers	Fetal Muscle Trunk	muscle
10	chr5:68258200-68259000	Enhancers	Fetal Muscle Leg	muscle
11	chr5:68258400-68258800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:68258400-68258800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:68258400-68258800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:68258400-68258800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr5:68258400-68258800	Enhancers	Fetal Lung	lung
16	chr5:68258400-68259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:68258400-68259200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:68258600-68258800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:68258600-68258800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:68258600-68258800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:68258600-68258800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:68258600-68258800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:68258600-68258800	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr5:68258600-68258800	Enhancers	Brain Hippocampus Middle	brain
25	chr5:68258600-68258800	Enhancers	Brain Substantia Nigra	brain
26	chr5:68258600-68258800	Enhancers	Fetal Kidney	kidney
27	chr5:68258600-68258800	Enhancers	Right Atrium	heart
28	chr5:68258600-68258800	Enhancers	Stomach Smooth Muscle	stomach
29	chr5:68258600-68258800	Enhancers	HepG2	liver
30	chr5:68258600-68258800	Flanking Active TSS	K562	blood
31	chr5:68258600-68258800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:68258600-68259000	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:68258600-68259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:68258600-68259000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:68258600-68259000	Enhancers	Brain Anterior Caudate	brain
36	chr5:68258600-68259000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr5:68258600-68259000	Active TSS	A549	lung
38	chr5:68258600-68259000	Flanking Active TSS	Osteobl	bone
39	chr5:68258600-68259200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:68258600-68259200	Active TSS	Muscle Satellite Cultured Cells	--
41	chr5:68258600-68259200	Enhancers	Brain Angular Gyrus	brain
42	chr5:68258600-68259200	Enhancers	Brain Cingulate Gyrus	brain
43	chr5:68258600-68259200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr5:68258600-68259200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr5:68258600-68259200	Enhancers	Fetal Intestine Small	intestine

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