Variant report

Variant	rs567282358
Chromosome Location	chr5:75699478-75699479
allele	C/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	POLR2A	chr5:75698737-75699967	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:75698488-75701192	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:75697542-75700781	GM12892	blood:	n/a	n/a
4	CTCF	chr5:75698068-75700127	SK-N-SH	brain:	n/a	n/a
5	BACH1	chr5:75698288-75700186	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr5:75699422-75700337	H1-hESC	embryonic stem cell:	n/a	chr5:75700187-75700198 chr5:75700187-75700198 chr5:75700188-75700197 chr5:75700188-75700197 chr5:75700186-75700196 chr5:75700188-75700198 chr5:75700187-75700198 chr5:75700187-75700196 chr5:75700186-75700199 chr5:75700187-75700197 chr5:75700188-75700198 chr5:75700186-75700199 chr5:75699920-75699930 chr5:75700187-75700198 chr5:75700187-75700197 chr5:75700184-75700199 chr5:75700223-75700233 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
7	SIN3A	chr5:75698046-75700359	H1-hESC	embryonic stem cell:	n/a	chr5:75698786-75698800 chr5:75699450-75699463 chr5:75698919-75698932 chr5:75700124-75700137 chr5:75700189-75700198
8	TBP	chr5:75698025-75699931	K562	blood:	n/a	n/a
9	MXI1	chr5:75698216-75702271	GM12878	blood:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
10	CREB1	chr5:75698708-75700773	HepG2	liver:	n/a	n/a
11	POLR2A	chr5:75697442-75702072	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:75697532-75701068	GM19193	blood:	n/a	n/a
13	ZNF143	chr5:75698153-75700855	GM12878	blood:	n/a	n/a
14	MYC	chr5:75697463-75701163	NB4	blood:	n/a	chr5:75700187-75700198 chr5:75700187-75700198 chr5:75700188-75700197 chr5:75700188-75700197 chr5:75700186-75700196 chr5:75698525-75698535 chr5:75700188-75700198 chr5:75700187-75700198 chr5:75700187-75700196 chr5:75700186-75700199 chr5:75700187-75700197 chr5:75700188-75700198 chr5:75700186-75700199 chr5:75699920-75699930 chr5:75700187-75700198 chr5:75700187-75700197 chr5:75700184-75700199 chr5:75699034-75699041 chr5:75700223-75700233 chr5:75698561-75698570 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
15	POLR2A	chr5:75698847-75700537	HepG2	liver:	n/a	n/a
16	HEY1	chr5:75698821-75699973	HepG2	liver:	n/a	chr5:75699423-75699438 chr5:75699012-75699027 chr5:75699282-75699297 chr5:75699528-75699543
17	ZBTB7A	chr5:75698683-75699911	K562	blood:	n/a	chr5:75698929-75698937 chr5:75698997-75699004 chr5:75699042-75699051
18	CCNT2	chr5:75698149-75699533	K562	blood:	n/a	chr5:75698222-75698242 chr5:75698568-75698588
19	POLR2A	chr5:75698073-75699516	K562	blood:	n/a	n/a
20	YY1	chr5:75698794-75699871	HepG2	liver:	n/a	chr5:75699125-75699139 chr5:75699119-75699133 chr5:75699125-75699134
21	RAD21	chr5:75698139-75700526	SK-N-SH	brain:	n/a	chr5:75699765-75699779 chr5:75699113-75699127 chr5:75700098-75700107 chr5:75698902-75698916 chr5:75698933-75698947
22	E2F6	chr5:75698038-75700858	K562	blood:	n/a	chr5:75699914-75699929 chr5:75699285-75699294 chr5:75698503-75698512 chr5:75699596-75699608 chr5:75699858-75699867
23	POLR2A	chr5:75697788-75699911	K562	blood:	n/a	n/a
24	MXI1	chr5:75698331-75700633	HepG2	liver:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
25	PML	chr5:75698132-75699966	GM12878	blood:	n/a	chr5:75698479-75698487
26	POLR2A	chr5:75697495-75701043	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:75697523-75700833	GM18505	blood:	n/a	n/a
28	CTCF	chr5:75698287-75700007	A549	lung:	n/a	n/a
29	POLR2A	chr5:75698232-75699581	K562	blood:	n/a	n/a
30	E2F6	chr5:75698793-75699511	K562	blood:	n/a	chr5:75699285-75699294
31	CTCF	chr5:75699467-75699544	GM12892	blood:	n/a	n/a
32	POLR2A	chr5:75698387-75699505	K562	blood:	n/a	n/a
33	RAD21	chr5:75698191-75700097	H1-hESC	embryonic stem cell:	n/a	chr5:75699765-75699779 chr5:75699113-75699127 chr5:75698902-75698916 chr5:75698933-75698947
34	POLR2A	chr5:75698958-75700215	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAZ	chr5:75698203-75700608	GM12878	blood:	n/a	chr5:75700187-75700198 chr5:75700187-75700198 chr5:75700188-75700197 chr5:75700188-75700197 chr5:75698525-75698535 chr5:75700188-75700198 chr5:75700187-75700198 chr5:75700187-75700196 chr5:75700186-75700199 chr5:75700187-75700197 chr5:75700188-75700198 chr5:75700186-75700199 chr5:75699920-75699930 chr5:75700187-75700198 chr5:75700187-75700197 chr5:75700184-75700199 chr5:75699034-75699041 chr5:75698561-75698570 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
36	POLR2A	chr5:75698687-75700885	HL-60	blood:	n/a	n/a
37	ATF2	chr5:75699475-75699882	H1-hESC	embryonic stem cell:	n/a	n/a
38	RCOR1	chr5:75698867-75700536	HepG2	liver:	n/a	n/a
39	RUNX3	chr5:75699468-75701098	GM12878	blood:	n/a	chr5:75700887-75700896 chr5:75700887-75700896 chr5:75700737-75700752
40	POLR2A	chr5:75698333-75701047	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:75699445-75700086	H1-hESC	embryonic stem cell:	n/a	n/a
42	UBTF	chr5:75698327-75699846	K562	blood:	n/a	n/a
43	RCOR1	chr5:75697916-75699913	K562	blood:	n/a	n/a
44	RELA	chr5:75697432-75699503	GM15510	blood:	n/a	n/a
45	POLR2A	chr5:75698385-75699892	PBDE	blood:	n/a	n/a
46	MAX	chr5:75698708-75700809	HepG2	liver:	n/a	chr5:75700187-75700198 chr5:75700187-75700198 chr5:75700188-75700197 chr5:75700188-75700197 chr5:75700186-75700196 chr5:75700188-75700198 chr5:75700187-75700198 chr5:75700187-75700196 chr5:75700186-75700199 chr5:75700187-75700197 chr5:75700188-75700198 chr5:75700186-75700199 chr5:75699920-75699930 chr5:75700187-75700198 chr5:75700187-75700197 chr5:75700184-75700199 chr5:75699034-75699041 chr5:75700223-75700233 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
47	JUND	chr5:75698719-75699932	H1-hESC	embryonic stem cell:	n/a	chr5:75699600-75699609
48	POLR2A	chr5:75698825-75700644	HepG2	liver:	n/a	n/a
49	ELF1	chr5:75698595-75700545	GM12878	blood:	n/a	chr5:75699753-75699762 chr5:75699125-75699134
50	POLR2A	chr5:75698734-75701081	NB4	blood:	n/a	n/a

Variant related genes	Relation type
IQGAP2	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3349228	chr5:75698646-75701144	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75697600-75699600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
2	chr5:75697600-75699800	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr5:75697600-75701200	Active TSS	Rectal Smooth Muscle	rectum
4	chr5:75697800-75699600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:75697800-75699600	Active TSS	Fetal Intestine Small	intestine
6	chr5:75697800-75699600	Bivalent/Poised TSS	NHEK	skin
7	chr5:75697800-75700000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr5:75697800-75700000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:75697800-75700400	Active TSS	Fetal Lung	lung
10	chr5:75697800-75700600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:75697800-75701200	Active TSS	Right Atrium	heart
12	chr5:75697800-75702000	Active TSS	Fetal Kidney	kidney
13	chr5:75698000-75699600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:75698000-75700000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr5:75698000-75700000	Active TSS	Esophagus	oesophagus
16	chr5:75698000-75700200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:75698000-75700200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:75698000-75700200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:75698000-75700200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr5:75698000-75700200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr5:75698000-75700200	Active TSS	Primary monocytes fromperipheralblood	blood
22	chr5:75698000-75700200	Active TSS	Duodenum Mucosa	Duodenum
23	chr5:75698000-75700200	Active TSS	Ovary	ovary
24	chr5:75698000-75700200	Active TSS	Monocytes-CD14+_RO01746	blood
25	chr5:75698000-75700400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr5:75698000-75700400	Active TSS	Pancreas	Pancrea
27	chr5:75698000-75700600	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr5:75698200-75699600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:75698200-75699600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:75698200-75699600	Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr5:75698200-75699800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:75698200-75699800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:75698200-75699800	Active TSS	Aorta	Aorta
34	chr5:75698200-75700000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr5:75698200-75700000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:75698200-75700000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:75698200-75700000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:75698200-75700000	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr5:75698200-75700000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:75698200-75700000	Active TSS	GM12878-XiMat	blood
41	chr5:75698200-75700200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr5:75698200-75700200	Active TSS	Primary T cells from cord blood	blood
43	chr5:75698200-75700200	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr5:75698200-75700200	Active TSS	Liver	Liver
45	chr5:75698200-75700200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr5:75698200-75700400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:75698200-75700400	Active TSS	Stomach Mucosa	stomach
48	chr5:75698200-75700600	Active TSS	Colon Smooth Muscle	Colon
49	chr5:75698200-75700800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:75698200-75700800	Active TSS	Left Ventricle	heart

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