Variant report

Variant	rs544711597
Chromosome Location	chr5:75699705-75699706
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	POLR2A	chr5:75698737-75699967	GM12878	blood:	n/a	n/a
2	CTCF	chr5:75699676-75699854	GM13976	blood:	n/a	n/a
3	JUND	chr5:75699646-75699833	K562	blood:	n/a	n/a
4	CTCF	chr5:75699660-75699810	GM12869	blood:	n/a	n/a
5	POLR2A	chr5:75698488-75701192	GM12878	blood:	n/a	n/a
6	CTCF	chr5:75699611-75699940	GM12891	blood:	n/a	n/a
7	POLR2A	chr5:75697542-75700781	GM12892	blood:	n/a	n/a
8	CTCF	chr5:75698068-75700127	SK-N-SH	brain:	n/a	n/a
9	MYBL2	chr5:75699666-75700695	HepG2	liver:	n/a	n/a
10	BACH1	chr5:75698288-75700186	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr5:75699660-75699810	HCFaa	heart:	n/a	n/a
12	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
13	CTCF	chr5:75699660-75699810	AoAF	blood vessel:	n/a	n/a
14	CTCFL	chr5:75699610-75699876	K562	blood:	n/a	n/a
15	E2F6	chr5:75699648-75700558	K562	blood:	n/a	chr5:75699914-75699929 chr5:75699858-75699867
16	RAD21	chr5:75699484-75699999	H1-hESC	embryonic stem cell:	n/a	chr5:75699765-75699779
17	RAD21	chr5:75699602-75699931	SK-N-SH_RA	brain:	n/a	chr5:75699765-75699779
18	CTCF	chr5:75699700-75699850	GM12870	blood:	n/a	n/a
19	SMC3	chr5:75699634-75699913	HepG2	liver:	n/a	n/a
20	CTCF	chr5:75699583-75699892	K562	blood:	n/a	n/a
21	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
22	TBP	chr5:75698025-75699931	K562	blood:	n/a	n/a
23	CTCF	chr5:75699633-75699866	A549	lung:	n/a	n/a
24	CTCF	chr5:75699669-75699870	GM10266	blood:	n/a	n/a
25	CTCF	chr5:75699587-75699848	SK-N-SH_RA	brain:	n/a	n/a
26	FOXA2	chr5:75699700-75699934	HepG2	liver:	n/a	n/a
27	MXI1	chr5:75698216-75702271	GM12878	blood:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
28	SP4	chr5:75699507-75699963	H1-hESC	embryonic stem cell:	n/a	chr5:75699597-75699613
29	CTCF	chr5:75699680-75699830	BJ	skin:	n/a	n/a
30	CTCF	chr5:75699660-75699810	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr5:75699657-75699870	Pancreas_OC	pancreas:	n/a	n/a
32	MTA3	chr5:75699495-75701331	GM12878	blood:	n/a	n/a
33	CREB1	chr5:75698708-75700773	HepG2	liver:	n/a	n/a
34	CTCF	chr5:75699680-75699830	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:75697442-75702072	GM12891	blood:	n/a	n/a
36	POLR2A	chr5:75697532-75701068	GM19193	blood:	n/a	n/a
37	ZNF143	chr5:75698153-75700855	GM12878	blood:	n/a	n/a
38	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
39	POLR2A	chr5:75698847-75700537	HepG2	liver:	n/a	n/a
40	HEY1	chr5:75698821-75699973	HepG2	liver:	n/a	chr5:75699423-75699438 chr5:75699012-75699027 chr5:75699282-75699297 chr5:75699528-75699543
41	ZBTB7A	chr5:75698683-75699911	K562	blood:	n/a	chr5:75698929-75698937 chr5:75698997-75699004 chr5:75699042-75699051
42	HDAC2	chr5:75699609-75700573	HepG2	liver:	n/a	n/a
43	RAD21	chr5:75699538-75699956	HepG2	liver:	n/a	chr5:75699765-75699779
44	E2F6	chr5:75699575-75700420	H1-hESC	embryonic stem cell:	n/a	chr5:75699914-75699929 chr5:75699596-75699608 chr5:75699858-75699867
45	CTCF	chr5:75699680-75699830	GM12866	blood:	n/a	n/a
46	CTCF	chr5:75699700-75699850	GM12868	blood:	n/a	n/a
47	MAX	chr5:75699573-75700698	K562	blood:	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
48	CTCF	chr5:75699660-75699810	GM12867	blood:	n/a	n/a
49	CTCF	chr5:75699700-75699850	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr5:75699680-75699830	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:75699529..75700200-chr5:75878922..75879530,2	K562	blood:

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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75697600-75699800	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr5:75697600-75701200	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:75697800-75700000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr5:75697800-75700000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:75697800-75700400	Active TSS	Fetal Lung	lung
6	chr5:75697800-75700600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:75697800-75701200	Active TSS	Right Atrium	heart
8	chr5:75697800-75702000	Active TSS	Fetal Kidney	kidney
9	chr5:75698000-75700000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:75698000-75700000	Active TSS	Esophagus	oesophagus
11	chr5:75698000-75700200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr5:75698000-75700200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr5:75698000-75700200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:75698000-75700200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr5:75698000-75700200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:75698000-75700200	Active TSS	Primary monocytes fromperipheralblood	blood
17	chr5:75698000-75700200	Active TSS	Duodenum Mucosa	Duodenum
18	chr5:75698000-75700200	Active TSS	Ovary	ovary
19	chr5:75698000-75700200	Active TSS	Monocytes-CD14+_RO01746	blood
20	chr5:75698000-75700400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr5:75698000-75700400	Active TSS	Pancreas	Pancrea
22	chr5:75698000-75700600	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr5:75698200-75699800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:75698200-75699800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:75698200-75699800	Active TSS	Aorta	Aorta
26	chr5:75698200-75700000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr5:75698200-75700000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:75698200-75700000	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr5:75698200-75700000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:75698200-75700000	Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr5:75698200-75700000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:75698200-75700000	Active TSS	GM12878-XiMat	blood
33	chr5:75698200-75700200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:75698200-75700200	Active TSS	Primary T cells from cord blood	blood
35	chr5:75698200-75700200	Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr5:75698200-75700200	Active TSS	Liver	Liver
37	chr5:75698200-75700200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr5:75698200-75700400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:75698200-75700400	Active TSS	Stomach Mucosa	stomach
40	chr5:75698200-75700600	Active TSS	Colon Smooth Muscle	Colon
41	chr5:75698200-75700800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:75698200-75700800	Active TSS	Left Ventricle	heart
43	chr5:75698200-75700800	Active TSS	Right Ventricle	heart
44	chr5:75698400-75699800	Active TSS	Brain Substantia Nigra	brain
45	chr5:75698400-75700000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:75698400-75700000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:75698400-75700000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:75698400-75700000	Active TSS	K562	blood
49	chr5:75698400-75700200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:75698400-75700200	Active TSS	Primary T helper naive cells from peripheral blood	blood

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