Variant report

Variant	rs563120340
Chromosome Location	chr5:75699869-75699870
allele	A/C
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	chr5:75699733-75699965	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:75698488-75701192	GM12878	blood:	n/a	n/a
4	CTCF	chr5:75699611-75699940	GM12891	blood:	n/a	n/a
5	POLR2A	chr5:75697542-75700781	GM12892	blood:	n/a	n/a
6	CTCF	chr5:75698068-75700127	SK-N-SH	brain:	n/a	n/a
7	MYBL2	chr5:75699666-75700695	HepG2	liver:	n/a	n/a
8	BACH1	chr5:75698288-75700186	H1-hESC	embryonic stem cell:	n/a	n/a
9	NFYB	chr5:75699809-75700298	K562	blood:	n/a	n/a
10	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
11	CTCFL	chr5:75699610-75699876	K562	blood:	n/a	n/a
12	E2F6	chr5:75699648-75700558	K562	blood:	n/a	chr5:75699914-75699929 chr5:75699858-75699867
13	RAD21	chr5:75699484-75699999	H1-hESC	embryonic stem cell:	n/a	chr5:75699765-75699779
14	RAD21	chr5:75699602-75699931	SK-N-SH_RA	brain:	n/a	chr5:75699765-75699779
15	EP300	chr5:75699718-75699887	K562	blood:	n/a	chr5:75699753-75699762 chr5:75699822-75699832
16	SMC3	chr5:75699634-75699913	HepG2	liver:	n/a	n/a
17	CTCF	chr5:75699583-75699892	K562	blood:	n/a	n/a
18	GTF2F1	chr5:75699711-75699927	H1-hESC	embryonic stem cell:	n/a	n/a
19	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
20	TBP	chr5:75698025-75699931	K562	blood:	n/a	n/a
21	CTCF	chr5:75699669-75699870	GM10266	blood:	n/a	n/a
22	FOXA2	chr5:75699700-75699934	HepG2	liver:	n/a	n/a
23	MXI1	chr5:75698216-75702271	GM12878	blood:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
24	SP4	chr5:75699507-75699963	H1-hESC	embryonic stem cell:	n/a	chr5:75699597-75699613
25	CTCF	chr5:75699657-75699870	Pancreas_OC	pancreas:	n/a	n/a
26	MTA3	chr5:75699495-75701331	GM12878	blood:	n/a	n/a
27	CREB1	chr5:75698708-75700773	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:75697442-75702072	GM12891	blood:	n/a	n/a
29	POLR2A	chr5:75697532-75701068	GM19193	blood:	n/a	n/a
30	ZNF143	chr5:75698153-75700855	GM12878	blood:	n/a	n/a
31	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
32	POLR2A	chr5:75698847-75700537	HepG2	liver:	n/a	n/a
33	HEY1	chr5:75698821-75699973	HepG2	liver:	n/a	chr5:75699423-75699438 chr5:75699012-75699027 chr5:75699282-75699297 chr5:75699528-75699543
34	ZBTB7A	chr5:75698683-75699911	K562	blood:	n/a	chr5:75698929-75698937 chr5:75698997-75699004 chr5:75699042-75699051
35	HDAC2	chr5:75699609-75700573	HepG2	liver:	n/a	n/a
36	RAD21	chr5:75699538-75699956	HepG2	liver:	n/a	chr5:75699765-75699779
37	E2F6	chr5:75699575-75700420	H1-hESC	embryonic stem cell:	n/a	chr5:75699914-75699929 chr5:75699596-75699608 chr5:75699858-75699867
38	RELA	chr5:75699737-75700732	GM19099	blood:	n/a	n/a
39	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
40	EP300	chr5:75699843-75700930	GM12878	blood:	n/a	n/a
41	MAX	chr5:75699672-75700635	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
42	CTCF	chr5:75699542-75699940	GM19239	blood:	n/a	n/a
43	MAX	chr5:75699520-75700847	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 chr5:75700223-75700233 chr5:75700188-75700197 chr5:75700191-75700199 chr5:75700007-75700017
44	YY1	chr5:75698794-75699871	HepG2	liver:	n/a	chr5:75699125-75699139 chr5:75699119-75699133 chr5:75699125-75699134
45	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
46	E2F6	chr5:75698038-75700858	K562	blood:	n/a	chr5:75699914-75699929 chr5:75699285-75699294 chr5:75698503-75698512 chr5:75699596-75699608 chr5:75699858-75699867
47	POLR2A	chr5:75697788-75699911	K562	blood:	n/a	n/a
48	MXI1	chr5:75698331-75700633	HepG2	liver:	n/a	chr5:75700189-75700198 chr5:75700187-75700196
49	RUNX3	chr5:75699551-75699969	GM12878	blood:	n/a	n/a
50	PML	chr5:75698132-75699966	GM12878	blood:	n/a	chr5:75698479-75698487

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75699865-75699915	HEK293	kidney:	embryo
2	chr5:75699865-75699915	BE2_C	brain:	n/a
3	chr5:75699865-75699915	AG04450	lung:	fetal
4	chr5:75699865-75699915	IMR90	lung:	fetal
5	chr5:75699865-75699915	HNPCEpiC	eye:	n/a
6	chr5:75699865-75699915	HEEpiC	esophagus:	n/a
7	chr5:75699865-75699915	AG10803	skin:	n/a
8	chr5:75699865-75699915	SK-N-MC	brain:	n/a
9	chr5:75699865-75699915	AoSMC	blood vessel:	n/a
10	chr5:75699865-75699915	PFSK-1	brain:	n/a
11	chr5:75699865-75699915	HRCEpiC	kidney:	n/a
12	chr5:75699865-75699915	GM06990	blood:	n/a
13	chr5:75699865-75699915	NB4	blood:	n/a
14	chr5:75699865-75699915	HRE	kidney:	n/a
15	chr5:75699865-75699915	HCF	heart:	n/a
16	chr5:75699865-75699915	MCF-7	breast:	n/a
17	chr5:75699865-75699915	SK-N-SH_RA	brain:	n/a
18	chr5:75699865-75699915	HUVEC	blood vessel:	n/a
19	chr5:75699865-75699915	U87	brain:	n/a
20	chr5:75699865-75699915	Caco-2	colon:	n/a
21	chr5:75699865-75699915	LNCaP	prostate:	n/a
22	chr5:75699865-75699915	PANC-1	pancreas:	n/a
23	chr5:75699865-75699915	NH-A	brain:	n/a
24	chr5:75699865-75699915	CMK	blood:	n/a
25	chr5:75699865-75699915	MCF10A-Er-Src	breast:	n/a
26	chr5:75699865-75699915	SKMC	muscle:	n/a
27	chr5:75699865-75699915	SAEC	small airway:	n/a
28	chr5:75699865-75699915	K562	blood:	n/a
29	chr5:75699865-75699915	HepG2	liver:	n/a
30	chr5:75699865-75699915	HL-60	blood:	n/a
31	chr5:75699865-75699915	GM19239	blood:	n/a
32	chr5:75699865-75699915	GM12891	blood:	n/a
33	chr5:75699865-75699915	PrEC	prostate:	n/a
34	chr5:75699865-75699915	HCPEpiC	choroid plexus:	n/a
35	chr5:75699865-75699915	AG09309	skin:	n/a
36	chr5:75699865-75699915	HCM	heart:	n/a
37	chr5:75699865-75699915	NHDF-neo	bronchial:	n/a
38	chr5:75699865-75699915	NHBE	bronchial:	n/a
39	chr5:75699865-75699915	SK-N-SH	brain:	n/a
40	chr5:75699865-75699915	Jurkat	blood:	n/a
41	chr5:75699865-75699915	RPTEC	kidney:	n/a
42	chr5:75699865-75699915	ProgFib	skin:	n/a
43	chr5:75699865-75699915	HPAEpiC	pulmonary alveolar:	n/a
44	chr5:75699865-75699915	GM12878	blood:	n/a
45	chr5:75699865-75699915	HRPEpiC	eye:	n/a
46	chr5:75699865-75699915	HAEpiC	amniotic membrane:	n/a
47	chr5:75699865-75699915	H1-hESC	embryonic stem cell:	embryo
48	chr5:75699865-75699915	GM12892	blood:	n/a
49	chr5:75699865-75699915	Hela-S3	cervix:	n/a
50	chr5:75699865-75699915	NT2-D1	testis:	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
IQGAP2	CpG island

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:103 , 50 per page) page: 1 2 3

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

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