Variant report

Variant	rs566480555
Chromosome Location	chr5:80256163-80256164
allele	A/G
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	USF1	chr5:80256027-80256246	HepG2	liver:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
5	JUND	chr5:80256114-80256266	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF1	chr5:80256015-80256210	A549	lung:	n/a	chr5:80256132-80256143 chr5:80256192-80256208
7	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
8	MAX	chr5:80255887-80257157	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
9	MYC	chr5:80256001-80256613	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
10	POLR2A	chr5:80256040-80256268	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:80256006-80256278	HepG2	liver:	n/a	n/a
12	MXI1	chr5:80256081-80256230	H1-hESC	embryonic stem cell:	n/a	chr5:80256134-80256143
13	USF1	chr5:80255852-80256270	H1-hESC	embryonic stem cell:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
14	TAF1	chr5:80255820-80256886	HepG2	liver:	n/a	n/a
15	CTCF	chr5:80256040-80256190	SAEC	small airway:	n/a	n/a
16	POLR2A	chr5:80255983-80256261	HepG2	liver:	n/a	n/a
17	USF1	chr5:80256028-80256234	H1-hESC	embryonic stem cell:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
18	CTCF	chr5:80256020-80256170	GM12871	blood:	n/a	n/a
19	USF2	chr5:80255955-80256297	H1-hESC	embryonic stem cell:	n/a	chr5:80256192-80256208 chr5:80256200-80256216
20	MXI1	chr5:80255829-80257311	HepG2	liver:	n/a	chr5:80256134-80256143
21	TBP	chr5:80255892-80256242	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr5:80255958-80256305	HepG2	liver:	n/a	chr5:80256192-80256208 chr5:80256200-80256216
23	ZNF263	chr5:80255355-80257413	HEK293-T-REx	kidney:	n/a	chr5:80256995-80257016
24	GTF2F1	chr5:80256079-80256252	H1-hESC	embryonic stem cell:	n/a	n/a
25	TBP	chr5:80255988-80256230	HepG2	liver:	n/a	n/a
26	USF1	chr5:80256033-80256316	SK-N-SH	brain:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
27	HDAC2	chr5:80255765-80256618	HepG2	liver:	n/a	n/a
28	USF1	chr5:80255987-80256283	HepG2	liver:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
29	MAX	chr5:80256024-80257019	A549	lung:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
30	EP300	chr5:80256094-80256201	HepG2	liver:	n/a	n/a
31	RAD21	chr5:80255862-80256959	IMR90	lung:	n/a	n/a
32	MAX	chr5:80255684-80257042	H1-hESC	embryonic stem cell:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
33	MAX	chr5:80255651-80256211	H1-hESC	embryonic stem cell:	n/a	chr5:80256133-80256142
34	MAX	chr5:80255669-80257408	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
35	USF1	chr5:80255889-80256280	ECC-1	luminal epithelium:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
36	RCOR1	chr5:80256160-80256290	HepG2	liver:	n/a	n/a
37	CTBP2	chr5:80255809-80257416	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF1	chr5:80255883-80256316	ECC-1	luminal epithelium:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
39	SIN3A	chr5:80255732-80257235	H1-hESC	embryonic stem cell:	n/a	chr5:80255952-80255963
40	E2F6	chr5:80256015-80257065	H1-hESC	embryonic stem cell:	n/a	chr5:80256194-80256204 chr5:80256848-80256862 chr5:80256405-80256414 chr5:80256074-80256084
41	TAF1	chr5:80255847-80257135	HepG2	liver:	n/a	n/a
42	MAX	chr5:80255924-80256802	ECC-1	luminal epithelium:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
43	POLR2A	chr5:80255661-80257284	HepG2	liver:	n/a	n/a
44	USF1	chr5:80256035-80256263	SK-N-SH_RA	brain:	n/a	chr5:80256132-80256143 chr5:80256192-80256208 chr5:80256200-80256216
45	CREB1	chr5:80255584-80257085	HepG2	liver:	n/a	n/a
46	HNF4G	chr5:80255901-80256252	HepG2	liver:	n/a	chr5:80256084-80256099 chr5:80256084-80256099
47	MAX	chr5:80255663-80257435	HepG2	liver:	n/a	chr5:80256133-80256142 chr5:80256372-80256382
48	POLR2A	chr5:80255939-80256797	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr5:80255737-80256585	HepG2	liver:	n/a	n/a
50	RAD21	chr5:80255933-80256875	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:80256137-80256187	HEEpiC	esophagus:	n/a
2	chr5:80256137-80256187	HRPEpiC	eye:	n/a
3	chr5:80256137-80256187	MCF10A-Er-Src	breast:	n/a
4	chr5:80256137-80256187	NB4	blood:	n/a
5	chr5:80256137-80256187	HIPEpiC	eye:	n/a
6	chr5:80256137-80256187	GM06990	blood:	n/a
7	chr5:80256137-80256187	HNPCEpiC	eye:	n/a
8	chr5:80256137-80256187	Jurkat	blood:	n/a
9	chr5:80256137-80256187	NH-A	brain:	n/a
10	chr5:80256137-80256187	Hela-S3	cervix:	n/a
11	chr5:80256137-80256187	CMK	blood:	n/a
12	chr5:80256137-80256187	BJ	skin:	n/a
13	chr5:80256137-80256187	NHBE	bronchial:	n/a
14	chr5:80256137-80256187	K562	blood:	n/a
15	chr5:80256137-80256187	AG04449	skin:	fetal
16	chr5:80256137-80256187	AG09309	skin:	n/a
17	chr5:80256137-80256187	AG10803	skin:	n/a
18	chr5:80256137-80256187	ovcar-3	ovarian:	n/a
19	chr5:80256137-80256187	PrEC	prostate:	n/a
20	chr5:80256137-80256187	BE2_C	brain:	n/a
21	chr5:80256137-80256187	HepG2	liver:	n/a
22	chr5:80256137-80256187	RPTEC	kidney:	n/a
23	chr5:80256137-80256187	HL-60	blood:	n/a
24	chr5:80256137-80256187	H1-hESC	embryonic stem cell:	embryo
25	chr5:80256137-80256187	GM12891	blood:	n/a
26	chr5:80256137-80256187	LNCaP	prostate:	n/a
27	chr5:80256137-80256187	ProgFib	skin:	n/a
28	chr5:80256137-80256187	SK-N-SH	brain:	n/a
29	chr5:80256137-80256187	NT2-D1	testis:	n/a
30	chr5:80256137-80256187	GM19239	blood:	n/a
31	chr5:80256137-80256187	PANC-1	pancreas:	n/a
32	chr5:80256137-80256187	T-47D	breast:	n/a
33	chr5:80256137-80256187	HAEpiC	amniotic membrane:	n/a
34	chr5:80256137-80256187	SAEC	small airway:	n/a
35	chr5:80256137-80256187	ECC-1	luminal epithelium:	n/a
36	chr5:80256137-80256187	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:80256137-80256187	IMR90	lung:	fetal
38	chr5:80256137-80256187	SK-N-SH_RA	brain:	n/a
39	chr5:80256137-80256187	GM12878	blood:	n/a
40	chr5:80256137-80256187	U87	brain:	n/a
41	chr5:80256137-80256187	HUVEC	blood vessel:	n/a
42	chr5:80256137-80256187	SK-N-MC	brain:	n/a
43	chr5:80256137-80256187	NHDF-neo	bronchial:	n/a
44	chr5:80256137-80256187	AG09319	gingival:	n/a
45	chr5:80256137-80256187	SKMC	muscle:	n/a
46	chr5:80256137-80256187	GM12892	blood:	n/a
47	chr5:80256137-80256187	HRCEpiC	kidney:	n/a
48	chr5:80256137-80256187	HCPEpiC	choroid plexus:	n/a
49	chr5:80256137-80256187	AG04450	lung:	fetal
50	chr5:80256137-80256187	MCF-7	breast:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DHFR-2	chr5:80256150-80256189	XLOC_004907

Variant related genes	Relation type
RASGRF2	TF binding region
RASGRF2	CpG island

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:112 , 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	chr5:80255600-80256200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
4	chr5:80255600-80256200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:80255600-80256200	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:80255600-80256200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
7	chr5:80255600-80256600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:80255600-80256800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr5:80255600-80256800	Bivalent/Poised TSS	Colonic Mucosa	Colon
10	chr5:80255600-80257000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:80255600-80257000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:80255600-80257000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
13	chr5:80255600-80257000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr5:80255600-80257000	Bivalent/Poised TSS	HSMM	muscle
15	chr5:80255600-80257200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:80255600-80257200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:80255600-80257400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:80255600-80257400	Bivalent/Poised TSS	Osteobl	bone
19	chr5:80255600-80258000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:80255600-80258000	Active TSS	Ovary	ovary
21	chr5:80255800-80256200	Flanking Active TSS	Liver	Liver
22	chr5:80255800-80256200	Flanking Active TSS	Pancreas	Pancrea
23	chr5:80255800-80256200	Flanking Bivalent TSS/Enh	Thymus	Thymus
24	chr5:80255800-80256400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:80255800-80256400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr5:80255800-80256400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
27	chr5:80255800-80256600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:80255800-80256600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:80255800-80256600	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr5:80255800-80256600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:80255800-80256800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:80255800-80256800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr5:80255800-80256800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
34	chr5:80255800-80257000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:80255800-80257000	Active TSS	Aorta	Aorta
36	chr5:80255800-80257000	Bivalent/Poised TSS	A549	lung
37	chr5:80255800-80257000	Flanking Bivalent TSS/Enh	HMEC	breast
38	chr5:80255800-80257000	Bivalent/Poised TSS	HSMMtube	muscle
39	chr5:80255800-80257000	Bivalent/Poised TSS	NH-A	brain
40	chr5:80255800-80257200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:80255800-80257400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:80255800-80257400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
43	chr5:80255800-80257600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr5:80255800-80258000	Active TSS	H9 Cell Line	embryonic stem cell
45	chr5:80255800-80258000	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr5:80255800-80258000	Active TSS	Brain Anterior Caudate	brain
47	chr5:80255800-80258000	Bivalent/Poised TSS	Psoas Muscle	Psoas
48	chr5:80255800-80258200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr5:80255800-80258200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:80255800-80258200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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