Variant report

Variant	rs560658914
Chromosome Location	chr5:15500649-15500650
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	SIN3A	chr5:15499664-15501937	H1-hESC	embryonic stem cell:	n/a	chr5:15500416-15500429 chr5:15500559-15500572
2	POLR2A	chr5:15499932-15501283	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr5:15500506-15501163	U87	brain:	n/a	n/a
4	ELF1	chr5:15500526-15500935	GM12878	blood:	n/a	chr5:15500562-15500574
5	PBX3	chr5:15500588-15502042	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr5:15499886-15500736	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr5:15500063-15500873	H1-hESC	embryonic stem cell:	n/a	chr5:15500284-15500294
8	TBP	chr5:15499682-15500953	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:15499941-15500760	IMR90	lung:	n/a	chr5:15500594-15500612 chr5:15500585-15500594 chr5:15500569-15500582
10	POLR2A	chr5:15499923-15500911	HUVEC	blood vessel:	n/a	n/a
11	RAD21	chr5:15499731-15501975	IMR90	lung:	n/a	chr5:15501643-15501650 chr5:15501212-15501222 chr5:15500595-15500614 chr5:15500403-15500416
12	YY1	chr5:15500561-15501228	SK-N-SH_RA	brain:	n/a	chr5:15501151-15501159 chr5:15500775-15500795
13	POLR2A	chr5:15499822-15501110	Gliobla	brain:	n/a	n/a
14	SIN3AK20	chr5:15500549-15501090	SK-N-SH	brain:	n/a	n/a
15	ZNF263	chr5:15499986-15501683	HEK293-T-REx	kidney:	n/a	chr5:15500862-15500871 chr5:15500199-15500208 chr5:15501531-15501540 chr5:15500865-15500886
16	RAD21	chr5:15499982-15500976	H1-hESC	embryonic stem cell:	n/a	chr5:15500595-15500614 chr5:15500403-15500416
17	TAF1	chr5:15500612-15500969	SK-N-SH	brain:	n/a	n/a
18	CTBP2	chr5:15500015-15501869	H1-hESC	embryonic stem cell:	n/a	n/a
19	TAF1	chr5:15500569-15500832	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:15500071-15501140	IMR90	lung:	n/a	n/a
21	POLR2A	chr5:15499665-15501053	HUVEC	blood vessel:	n/a	n/a
22	KAP1	chr5:15500636-15502094	HEK293	kidney:	n/a	chr5:15501836-15501844
23	POLR2A	chr5:15499859-15500731	PFSK-1	brain:	n/a	n/a
24	MAZ	chr5:15499441-15503111	IMR90	lung:	n/a	chr5:15500615-15500625
25	MYC	chr5:15500621-15500952	MCF-7	breast:	n/a	n/a
26	BACH1	chr5:15500629-15500915	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:15500003-15501056	ProgFib	skin:	n/a	n/a
28	POLR2A	chr5:15500632-15500955	H1-neurons	neurons:	n/a	n/a
29	YY1	chr5:15500465-15500929	H1-hESC	embryonic stem cell:	n/a	chr5:15500468-15500477 chr5:15500471-15500480 chr5:15500465-15500479 chr5:15500465-15500474 chr5:15500471-15500485 chr5:15500466-15500477 chr5:15500775-15500795
30	YY1	chr5:15500620-15500965	H1-hESC	embryonic stem cell:	n/a	chr5:15500775-15500795
31	CTCF	chr5:15500520-15500670	AG04449	skin:	n/a	chr5:15500594-15500612 chr5:15500585-15500594 chr5:15500569-15500582
32	POLR2A	chr5:15500506-15501178	U87	brain:	n/a	n/a
33	RAD21	chr5:15500549-15500865	SK-N-SH_RA	brain:	n/a	chr5:15500595-15500614
34	POLR2A	chr5:15499671-15501010	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:15500555-15500897	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FBXL7	TF binding region

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	chr5:15499400-15500800	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:15499400-15501600	Active TSS	Brain Anterior Caudate	brain
3	chr5:15499400-15501800	Active TSS	Brain Hippocampus Middle	brain
4	chr5:15499400-15502200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:15499400-15502600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:15499400-15502600	Active TSS	Colon Smooth Muscle	Colon
7	chr5:15499400-15502600	Active TSS	NHDF-Ad	bronchial
8	chr5:15499400-15502800	Active TSS	Brain Substantia Nigra	brain
9	chr5:15499600-15500800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:15499600-15500800	Active TSS	A549	lung
11	chr5:15499600-15501000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr5:15499600-15501000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr5:15499600-15501600	Active TSS	Placenta Amnion	Placenta Amnion
14	chr5:15499600-15501600	Active TSS	Stomach Smooth Muscle	stomach
15	chr5:15499600-15501800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr5:15499600-15502000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr5:15499600-15502000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:15499600-15502000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:15499600-15502000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
20	chr5:15499600-15502000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
21	chr5:15499600-15502200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:15499600-15502400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:15499600-15502400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr5:15499600-15502400	Active TSS	NH-A	brain
25	chr5:15499600-15502600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:15499600-15502600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:15499600-15502600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:15499600-15502600	Active TSS	Aorta	Aorta
29	chr5:15499600-15502600	Active TSS	Fetal Muscle Trunk	muscle
30	chr5:15499600-15502600	Active TSS	Right Ventricle	heart
31	chr5:15499600-15502800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:15499600-15502800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:15499600-15502800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr5:15499600-15502800	Active TSS	Fetal Kidney	kidney
35	chr5:15499600-15502800	Active TSS	Left Ventricle	heart
36	chr5:15499600-15502800	Active TSS	Ovary	ovary
37	chr5:15499600-15503000	Active TSS	Right Atrium	heart
38	chr5:15499800-15500800	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr5:15499800-15500800	Active TSS	Primary hematopoietic stem cells	blood
40	chr5:15499800-15501000	Bivalent/Poised TSS	Thymus	Thymus
41	chr5:15499800-15501600	Bivalent/Poised TSS	Fetal Thymus	thymus
42	chr5:15499800-15501800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:15499800-15501800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:15499800-15501800	Active TSS	Esophagus	oesophagus
45	chr5:15499800-15501800	Active TSS	Lung	lung
46	chr5:15499800-15502000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:15499800-15502000	Active TSS	Brain Cingulate Gyrus	brain
48	chr5:15499800-15502400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr5:15499800-15502400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:15499800-15502400	Active TSS	Duodenum Smooth Muscle	Duodenum

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