Variant report

Variant	rs557294649
Chromosome Location	chr5:80256312-80256313
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	RAD21	chr5:80255971-80256619	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:80255958-80256374	HepG2	liver:	n/a	n/a
3	HEY1	chr5:80255896-80256699	HepG2	liver:	n/a	chr5:80256542-80256557 chr5:80256189-80256204 chr5:80256069-80256084
4	YY1	chr5:80255791-80256894	HepG2	liver:	n/a	chr5:80256190-80256201 chr5:80256387-80256396 chr5:80256220-80256231 chr5:80256062-80256076 chr5:80256197-80256211 chr5:80256543-80256554 chr5:80256378-80256392 chr5:80256193-80256207
5	MAX	chr5:80255887-80257157	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
6	MYC	chr5:80256001-80256613	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
7	TAF1	chr5:80255820-80256886	HepG2	liver:	n/a	n/a
8	MAX	chr5:80256201-80256900	A549	lung:	n/a	chr5:80256372-80256382
9	MXI1	chr5:80255829-80257311	HepG2	liver:	n/a	chr5:80256134-80256143
10	YY1	chr5:80256310-80257172	H1-hESC	embryonic stem cell:	n/a	chr5:80256387-80256396 chr5:80256543-80256554 chr5:80256378-80256392
11	ZNF263	chr5:80255355-80257413	HEK293-T-REx	kidney:	n/a	chr5:80256995-80257016
12	CTCF	chr5:80256285-80256655	IMR90	lung:	n/a	n/a
13	USF1	chr5:80256033-80256316	SK-N-SH	brain:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
14	HDAC2	chr5:80255765-80256618	HepG2	liver:	n/a	n/a
15	CTCF	chr5:80256241-80256615	HepG2	liver:	n/a	n/a
16	MAX	chr5:80256024-80257019	A549	lung:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
17	CTCF	chr5:80256300-80256450	HRPEpiC	eye:	n/a	n/a
18	RAD21	chr5:80255862-80256959	IMR90	lung:	n/a	n/a
19	MAX	chr5:80255684-80257042	H1-hESC	embryonic stem cell:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
20	MAX	chr5:80255669-80257408	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
21	CTBP2	chr5:80255809-80257416	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF1	chr5:80255883-80256316	ECC-1	luminal epithelium:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
23	SIN3A	chr5:80255732-80257235	H1-hESC	embryonic stem cell:	n/a	chr5:80255952-80255963
24	E2F6	chr5:80256015-80257065	H1-hESC	embryonic stem cell:	n/a	chr5:80256194-80256204 chr5:80256848-80256862 chr5:80256405-80256414 chr5:80256074-80256084
25	TAF1	chr5:80255847-80257135	HepG2	liver:	n/a	n/a
26	MAX	chr5:80255924-80256802	ECC-1	luminal epithelium:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
27	POLR2A	chr5:80255661-80257284	HepG2	liver:	n/a	n/a
28	CTCF	chr5:80256260-80256410	GM12869	blood:	n/a	n/a
29	CREB1	chr5:80255584-80257085	HepG2	liver:	n/a	n/a
30	RAD21	chr5:80256266-80257167	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr5:80256260-80256944	A549	lung:	n/a	chr5:80256848-80256862 chr5:80256405-80256414
32	MAX	chr5:80255663-80257435	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
33	RAD21	chr5:80256214-80256658	HepG2	liver:	n/a	n/a
34	MAX	chr5:80256299-80257041	H1-hESC	embryonic stem cell:	n/a	chr5:80256372-80256382
35	RAD21	chr5:80256236-80256619	SK-N-SH_RA	brain:	n/a	n/a
36	POLR2A	chr5:80255939-80256797	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:80255737-80256585	HepG2	liver:	n/a	n/a
38	RAD21	chr5:80255933-80256875	HepG2	liver:	n/a	n/a
39	MAZ	chr5:80256086-80256593	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
40	E2F6	chr5:80256271-80256966	H1-hESC	embryonic stem cell:	n/a	chr5:80256848-80256862 chr5:80256405-80256414
41	POLR2A	chr5:80255440-80257187	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RASGRF2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3322696	chr5:80255021-80257569	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3330937	chr5:80255346-80257994	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv15582	chr5:80255351-80256937	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3359411	chr5:80255421-80257969	Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv598748	chr5:80255880-80256858	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv1822121	chr5:80255984-80257109	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv598749	chr5:80256158-80256784	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80255200-80256600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr5:80255400-80257400	Active TSS	Colon Smooth Muscle	Colon
3	chr5:80255600-80256600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:80255600-80256800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr5:80255600-80256800	Bivalent/Poised TSS	Colonic Mucosa	Colon
6	chr5:80255600-80257000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:80255600-80257000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:80255600-80257000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr5:80255600-80257000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr5:80255600-80257000	Bivalent/Poised TSS	HSMM	muscle
11	chr5:80255600-80257200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:80255600-80257200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:80255600-80257400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:80255600-80257400	Bivalent/Poised TSS	Osteobl	bone
15	chr5:80255600-80258000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:80255600-80258000	Active TSS	Ovary	ovary
17	chr5:80255800-80256400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:80255800-80256400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr5:80255800-80256400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr5:80255800-80256600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:80255800-80256600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr5:80255800-80256600	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr5:80255800-80256600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
24	chr5:80255800-80256800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:80255800-80256800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:80255800-80256800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
27	chr5:80255800-80257000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:80255800-80257000	Active TSS	Aorta	Aorta
29	chr5:80255800-80257000	Bivalent/Poised TSS	A549	lung
30	chr5:80255800-80257000	Flanking Bivalent TSS/Enh	HMEC	breast
31	chr5:80255800-80257000	Bivalent/Poised TSS	HSMMtube	muscle
32	chr5:80255800-80257000	Bivalent/Poised TSS	NH-A	brain
33	chr5:80255800-80257200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:80255800-80257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr5:80255800-80257400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
36	chr5:80255800-80257600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr5:80255800-80258000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr5:80255800-80258000	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr5:80255800-80258000	Active TSS	Brain Anterior Caudate	brain
40	chr5:80255800-80258000	Bivalent/Poised TSS	Psoas Muscle	Psoas
41	chr5:80255800-80258200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:80255800-80258200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:80255800-80258200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr5:80255800-80258200	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:80255800-80259000	Active TSS	NHLF	lung
46	chr5:80255800-80259600	Active TSS	Brain Substantia Nigra	brain
47	chr5:80255800-80261000	Active TSS	Right Atrium	heart
48	chr5:80255800-80261200	Active TSS	Brain Cingulate Gyrus	brain
49	chr5:80255800-80261600	Active TSS	Brain Angular Gyrus	brain
50	chr5:80256000-80256400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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