Variant report

Variant	rs185039987
Chromosome Location	chr5:68258803-68258804
allele	G/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	CTCF	chr5:68258800-68258950	SAEC	small airway:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
6	RAD21	chr5:68258632-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
7	CTCF	chr5:68258687-68259114	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
8	CTCF	chr5:68258800-68258950	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
9	CTCF	chr5:68258797-68259027	GM12878	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
10	CTCF	chr5:68258800-68258950	GM12875	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
11	CTCF	chr5:68258790-68259034	GM19240	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
12	CTCF	chr5:68258288-68259284	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
13	CTCF	chr5:68258775-68259018	Spleen_OC	spleen:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
14	CTCF	chr5:68258780-68258930	HVMF	connective:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
15	STAT3	chr5:68258728-68258977	MCF10A-Er-Src	breast:	n/a	chr5:68258874-68258885
16	CTCF	chr5:68258770-68258996	ECC-1	luminal epithelium:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
17	ZNF384	chr5:68258751-68258976	K562	blood:	n/a	n/a
18	ZNF143	chr5:68258776-68259068	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:68258800-68258950	GM12864	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
20	CTCF	chr5:68258761-68259021	SK-N-SH_RA	brain:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
21	CTCF	chr5:68258774-68259045	NHEK	skin:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
22	RAD21	chr5:68258533-68259089	A549	lung:	n/a	chr5:68258886-68258905
23	BACH1	chr5:68258751-68259013	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr5:68258627-68259127	HepG2	liver:	n/a	chr5:68258886-68258905
25	RAD21	chr5:68258502-68259232	A549	lung:	n/a	chr5:68258886-68258905
26	CTCF	chr5:68258790-68259042	ProgFib	skin:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
27	E2F4	chr5:68258748-68259081	MCF10A-Er-Src	breast:	n/a	n/a
28	SMC3	chr5:68258626-68259099	GM12878	blood:	n/a	chr5:68258890-68258904
29	SMC3	chr5:68258646-68259105	Hela-S3	cervix:	n/a	chr5:68258890-68258904
30	CTCF	chr5:68258692-68259113	H1-hESC	embryonic stem cell:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
31	CTCF	chr5:68258789-68259004	Lung_OC	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
32	RAD21	chr5:68258772-68258966	K562	blood:	n/a	chr5:68258886-68258905
33	ZNF143	chr5:68258727-68259055	GM12878	blood:	n/a	n/a
34	RAD21	chr5:68258649-68259103	Hela-S3	cervix:	n/a	chr5:68258886-68258905
35	CTCF	chr5:68258780-68258930	HPF	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
36	CTCF	chr5:68258794-68259038	GM12891	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
37	CTCF	chr5:68258779-68259026	HepG2	liver:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
38	RAD21	chr5:68258542-68259245	MCF-7	breast:	n/a	chr5:68258886-68258905
39	CTCF	chr5:68258787-68259034	GM12892	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
40	YY1	chr5:68258794-68258993	K562	blood:	n/a	n/a
41	RAD21	chr5:68258636-68259124	H1-hESC	embryonic stem cell:	n/a	chr5:68258886-68258905
42	RAD21	chr5:68258741-68259053	GM12878	blood:	n/a	chr5:68258886-68258905
43	CTCF	chr5:68258643-68259129	MCF-7	breast:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
44	CTCF	chr5:68258740-68258890	GM12870	blood:	n/a	n/a
45	CTCF	chr5:68258658-68259060	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
46	CTCF	chr5:68258703-68259159	A549	lung:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
47	SMC3	chr5:68258401-68259431	SK-N-SH	brain:	n/a	chr5:68258890-68258904
48	CTCF	chr5:68258800-68258950	NHDF-neo	bronchial:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
49	CTCF	chr5:68258679-68258996	K562	blood:	n/a	chr5:68258888-68258906 chr5:68258890-68258903 chr5:68258883-68258904
50	ZKSCAN1	chr5:68258574-68259010	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ENSG00000249335	TF binding region
ENSG00000250066	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:33 , 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	chr5:68258200-68259000	Enhancers	Fetal Muscle Leg	muscle
8	chr5:68258400-68259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:68258400-68259200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:68258600-68259000	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:68258600-68259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:68258600-68259000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:68258600-68259000	Enhancers	Brain Anterior Caudate	brain
14	chr5:68258600-68259000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr5:68258600-68259000	Active TSS	A549	lung
16	chr5:68258600-68259000	Flanking Active TSS	Osteobl	bone
17	chr5:68258600-68259200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:68258600-68259200	Active TSS	Muscle Satellite Cultured Cells	--
19	chr5:68258600-68259200	Enhancers	Brain Angular Gyrus	brain
20	chr5:68258600-68259200	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:68258600-68259200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:68258600-68259200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:68258600-68259200	Enhancers	Fetal Intestine Small	intestine
24	chr5:68258800-68259000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:68258800-68259000	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr5:68258800-68259000	Enhancers	NHDF-Ad	bronchial
27	chr5:68258800-68259200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:68258800-68259200	Enhancers	Adipose Nuclei	Adipose
29	chr5:68258800-68260000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr5:68258800-68260400	Weak transcription	Fetal Kidney	kidney
31	chr5:68258800-68260400	Weak transcription	Fetal Lung	lung
32	chr5:68258800-68262000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:68258800-68262000	Weak transcription	Fetal Muscle Trunk	muscle

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