Variant report

Variant	rs112289589
Chromosome Location	chr5:15500307-15500308
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:15500179-15500426	A549	lung:	n/a	n/a
2	CTCF	chr5:15500157-15500320	MCF-7	breast:	n/a	n/a
3	SIN3A	chr5:15499664-15501937	H1-hESC	embryonic stem cell:	n/a	chr5:15500416-15500429 chr5:15500559-15500572
4	CTCF	chr5:15500180-15500330	SAEC	small airway:	n/a	n/a
5	POLR2A	chr5:15499932-15501283	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr5:15500156-15500328	LNCaP	prostate:	n/a	n/a
7	MAX	chr5:15499787-15500410	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr5:15500160-15500310	AG09309	skin:	n/a	n/a
9	PBX3	chr5:15499917-15500534	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr5:15500260-15500410	HFF	foreskin:	n/a	n/a
11	CTCF	chr5:15500180-15500330	BJ	skin:	n/a	n/a
12	POLR2A	chr5:15499947-15500432	H1-hESC	embryonic stem cell:	n/a	n/a
13	SP4	chr5:15499992-15500401	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr5:15499986-15500480	A549	lung:	n/a	n/a
15	POLR2A	chr5:15499876-15500482	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr5:15500221-15500389	A549	lung:	n/a	n/a
17	POLR2A	chr5:15499886-15500736	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr5:15500046-15500458	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:15500160-15500310	AG04449	skin:	n/a	n/a
20	ZNF143	chr5:15500063-15500873	H1-hESC	embryonic stem cell:	n/a	chr5:15500284-15500294
21	RAD21	chr5:15500138-15500340	GM12878	blood:	n/a	n/a
22	CTCF	chr5:15500160-15500310	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr5:15500240-15500390	WERI-Rb-1	eye:	n/a	n/a
24	YY1	chr5:15499681-15500339	SK-N-SH_RA	brain:	n/a	n/a
25	TBP	chr5:15499682-15500953	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr5:15500240-15500390	HFF-Myc	foreskin:	n/a	n/a
27	CTCF	chr5:15499941-15500760	IMR90	lung:	n/a	chr5:15500594-15500612 chr5:15500585-15500594 chr5:15500569-15500582
28	POLR2A	chr5:15499923-15500911	HUVEC	blood vessel:	n/a	n/a
29	MAX	chr5:15499614-15500453	A549	lung:	n/a	n/a
30	PBX3	chr5:15499663-15500463	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:15499585-15500608	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr5:15500140-15500453	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr5:15500180-15500330	HFF-Myc	foreskin:	n/a	n/a
34	JUND	chr5:15500244-15500354	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr5:15499745-15500433	H1-hESC	embryonic stem cell:	n/a	n/a
36	RAD21	chr5:15499731-15501975	IMR90	lung:	n/a	chr5:15501643-15501650 chr5:15501212-15501222 chr5:15500595-15500614 chr5:15500403-15500416
37	CTCF	chr5:15500167-15500307	Lung_OC	lung:	n/a	n/a
38	CREB1	chr5:15500025-15500418	A549	lung:	n/a	n/a
39	CTCF	chr5:15500160-15500310	AG09319	gingival:	n/a	n/a
40	FOXA2	chr5:15500146-15500457	A549	lung:	n/a	n/a
41	TAF1	chr5:15500007-15500506	H1-hESC	embryonic stem cell:	n/a	n/a
42	RAD21	chr5:15500143-15500390	HepG2	liver:	n/a	n/a
43	TAF7	chr5:15500070-15500447	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr5:15499934-15500413	SK-N-SH_RA	brain:	n/a	n/a
45	RAD21	chr5:15500069-15500442	H1-hESC	embryonic stem cell:	n/a	chr5:15500403-15500416
46	POLR2A	chr5:15499822-15501110	Gliobla	brain:	n/a	n/a
47	ZNF263	chr5:15499986-15501683	HEK293-T-REx	kidney:	n/a	chr5:15500862-15500871 chr5:15500199-15500208 chr5:15501531-15501540 chr5:15500865-15500886
48	CTCF	chr5:15500160-15500310	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr5:15499925-15500525	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr5:15500160-15500310	NHLF	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:15500270-15500320	Caco-2	colon:	n/a
2	chr5:15500270-15500320	HAEpiC	amniotic membrane:	n/a
3	chr5:15500270-15500320	HUVEC	blood vessel:	n/a
4	chr5:15500270-15500320	IMR90	lung:	fetal
5	chr5:15500270-15500320	HRCEpiC	kidney:	n/a
6	chr5:15500270-15500320	HRE	kidney:	n/a
7	chr5:15500270-15500320	AoSMC	blood vessel:	n/a
8	chr5:15500270-15500320	Hepatocyte	liver:	n/a
9	chr5:15500270-15500320	SK-N-MC	brain:	n/a
10	chr5:15500270-15500320	BE2_C	brain:	n/a
11	chr5:15500270-15500320	HepG2	liver:	n/a
12	chr5:15500270-15500320	HNPCEpiC	eye:	n/a
13	chr5:15500270-15500320	HEEpiC	esophagus:	n/a
14	chr5:15500270-15500320	NH-A	brain:	n/a
15	chr5:15500270-15500320	NB4	blood:	n/a
16	chr5:15500270-15500320	ProgFib	skin:	n/a
17	chr5:15500270-15500320	HL-60	blood:	n/a
18	chr5:15500270-15500320	BJ	skin:	n/a
19	chr5:15500270-15500320	HMEC	breast:	n/a
20	chr5:15500270-15500320	HCM	heart:	n/a
21	chr5:15500270-15500320	GM12892	blood:	n/a
22	chr5:15500270-15500320	T-47D	breast:	n/a
23	chr5:15500270-15500320	MCF-7	breast:	n/a
24	chr5:15500270-15500320	SK-N-SH_RA	brain:	n/a
25	chr5:15500270-15500320	GM12878	blood:	n/a
26	chr5:15500270-15500320	MCF10A-Er-Src	breast:	n/a
27	chr5:15500270-15500320	SK-N-SH	brain:	n/a
28	chr5:15500270-15500320	HCPEpiC	choroid plexus:	n/a
29	chr5:15500270-15500320	HPAEpiC	pulmonary alveolar:	n/a
30	chr5:15500270-15500320	U87	brain:	n/a
31	chr5:15500270-15500320	HRPEpiC	eye:	n/a
32	chr5:15500270-15500320	RPTEC	kidney:	n/a
33	chr5:15500270-15500320	AG10803	skin:	n/a
34	chr5:15500270-15500320	AG04449	skin:	fetal
35	chr5:15500270-15500320	HCT-116	colon:	n/a
36	chr5:15500270-15500320	HCF	heart:	n/a
37	chr5:15500270-15500320	AG09319	gingival:	n/a
38	chr5:15500270-15500320	ECC-1	luminal epithelium:	n/a
39	chr5:15500270-15500320	GM06990	blood:	n/a
40	chr5:15500270-15500320	HIPEpiC	eye:	n/a
41	chr5:15500270-15500320	SAEC	small airway:	n/a
42	chr5:15500270-15500320	GM19239	blood:	n/a
43	chr5:15500270-15500320	LNCaP	prostate:	n/a
44	chr5:15500270-15500320	HEK293	kidney:	embryo
45	chr5:15500270-15500320	NT2-D1	testis:	n/a
46	chr5:15500270-15500320	NHBE	bronchial:	n/a
47	chr5:15500270-15500320	GM12891	blood:	n/a
48	chr5:15500270-15500320	PrEC	prostate:	n/a
49	chr5:15500270-15500320	PFSK-1	brain:	n/a
50	chr5:15500270-15500320	AG09309	skin:	n/a

No data

Variant related genes	Relation type
FBXL7	TF binding region
FBXL7	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3345774	chr5:15499527-15501975	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15499400-15500600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:15499400-15500800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:15499400-15501600	Active TSS	Brain Anterior Caudate	brain
4	chr5:15499400-15501800	Active TSS	Brain Hippocampus Middle	brain
5	chr5:15499400-15502200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:15499400-15502600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:15499400-15502600	Active TSS	Colon Smooth Muscle	Colon
8	chr5:15499400-15502600	Active TSS	NHDF-Ad	bronchial
9	chr5:15499400-15502800	Active TSS	Brain Substantia Nigra	brain
10	chr5:15499600-15500400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:15499600-15500800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:15499600-15500800	Active TSS	A549	lung
13	chr5:15499600-15501000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:15499600-15501000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:15499600-15501600	Active TSS	Placenta Amnion	Placenta Amnion
16	chr5:15499600-15501600	Active TSS	Stomach Smooth Muscle	stomach
17	chr5:15499600-15501800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:15499600-15502000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr5:15499600-15502000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:15499600-15502000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:15499600-15502000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
22	chr5:15499600-15502000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
23	chr5:15499600-15502200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:15499600-15502400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr5:15499600-15502400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr5:15499600-15502400	Active TSS	NH-A	brain
27	chr5:15499600-15502600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:15499600-15502600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:15499600-15502600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:15499600-15502600	Active TSS	Aorta	Aorta
31	chr5:15499600-15502600	Active TSS	Fetal Muscle Trunk	muscle
32	chr5:15499600-15502600	Active TSS	Right Ventricle	heart
33	chr5:15499600-15502800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:15499600-15502800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:15499600-15502800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
36	chr5:15499600-15502800	Active TSS	Fetal Kidney	kidney
37	chr5:15499600-15502800	Active TSS	Left Ventricle	heart
38	chr5:15499600-15502800	Active TSS	Ovary	ovary
39	chr5:15499600-15503000	Active TSS	Right Atrium	heart
40	chr5:15499800-15500400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:15499800-15500400	Active TSS	Colonic Mucosa	Colon
42	chr5:15499800-15500400	Flanking Active TSS	Placenta	Placenta
43	chr5:15499800-15500600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:15499800-15500800	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr5:15499800-15500800	Active TSS	Primary hematopoietic stem cells	blood
46	chr5:15499800-15501000	Bivalent/Poised TSS	Thymus	Thymus
47	chr5:15499800-15501600	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr5:15499800-15501800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr5:15499800-15501800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:15499800-15501800	Active TSS	Esophagus	oesophagus

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