Variant report

Variant	rs559638246
Chromosome Location	chr5:74162820-74162821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:102)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:102 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr5:74161392-74162921	ECC-1	luminal epithelium:	n/a	chr5:74162413-74162422 chr5:74162253-74162264
2	POLR2A	chr5:74160377-74163048	HepG2	liver:	n/a	n/a
3	SP1	chr5:74162557-74163102	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr5:74161188-74163068	HepG2	liver:	n/a	chr5:74162270-74162280 chr5:74162396-74162406
5	HNF4A	chr5:74162565-74163044	HepG2	liver:	n/a	chr5:74162678-74162696 chr5:74162676-74162698
6	TEAD4	chr5:74162745-74162921	HepG2	liver:	n/a	chr5:74162841-74162850
7	MYBL2	chr5:74162475-74163109	HepG2	liver:	n/a	chr5:74162869-74162883
8	POLR2A	chr5:74161026-74163038	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr5:74162473-74162986	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:74161985-74162899	HepG2	liver:	n/a	n/a
11	EP300	chr5:74162549-74163079	H1-hESC	embryonic stem cell:	n/a	n/a
12	TCF7L2	chr5:74162030-74162952	PANC-1	pancreas:	n/a	n/a
13	ARID3A	chr5:74162526-74163038	HepG2	liver:	n/a	n/a
14	TCF12	chr5:74162641-74163010	HepG2	liver:	n/a	n/a
15	TCF7L2	chr5:74162589-74163523	HepG2	liver:	n/a	chr5:74163271-74163285 chr5:74163285-74163294
16	NFIC	chr5:74162554-74163265	HepG2	liver:	n/a	n/a
17	MXI1	chr5:74161189-74163023	HepG2	liver:	n/a	n/a
18	POLR2A	chr5:74161305-74162851	HCT-116	colon:	n/a	n/a
19	REST	chr5:74162448-74163013	HepG2	liver:	n/a	n/a
20	MYBL2	chr5:74162344-74163138	HepG2	liver:	n/a	chr5:74162869-74162883
21	YY1	chr5:74162443-74162903	H1-hESC	embryonic stem cell:	n/a	n/a
22	EP300	chr5:74162627-74163061	HepG2	liver:	n/a	n/a
23	FOXA1	chr5:74162515-74162996	HepG2	liver:	n/a	n/a
24	MAZ	chr5:74162681-74162881	HepG2	liver:	n/a	n/a
25	POLR2A	chr5:74161505-74162913	HCT-116	colon:	n/a	n/a
26	POLR2A	chr5:74160759-74163043	HepG2	liver:	n/a	n/a
27	TCF7L2	chr5:74161511-74162958	HCT-116	colon:	n/a	n/a
28	RCOR1	chr5:74162550-74163017	HepG2	liver:	n/a	n/a
29	CTBP2	chr5:74161126-74162967	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr5:74161120-74162928	H1-hESC	embryonic stem cell:	n/a	n/a
31	HEY1	chr5:74161427-74163052	HepG2	liver:	n/a	chr5:74161997-74162012 chr5:74162243-74162258 chr5:74162276-74162291 chr5:74162345-74162360
32	SMC3	chr5:74162702-74163131	HepG2	liver:	n/a	n/a
33	GABPA	chr5:74162651-74163058	A549	lung:	n/a	n/a
34	CEBPD	chr5:74162496-74162853	HepG2	liver:	n/a	n/a
35	FOXA2	chr5:74162533-74163035	HepG2	liver:	n/a	n/a
36	NR2F2	chr5:74162431-74163068	HepG2	liver:	n/a	n/a
37	TBP	chr5:74161255-74163024	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr5:74162003-74162915	H1-neurons	neurons:	n/a	n/a
39	CEBPB	chr5:74162595-74162943	HepG2	liver:	n/a	n/a
40	MAFK	chr5:74162508-74162916	HepG2	liver:	n/a	n/a
41	REST	chr5:74160888-74163163	H1-neurons	neurons:	n/a	chr5:74161964-74161977 chr5:74161838-74161851 chr5:74161891-74161909
42	MYC	chr5:74162652-74162909	HepG2	liver:	n/a	n/a
43	HDAC2	chr5:74161560-74163061	HepG2	liver:	n/a	n/a
44	EP300	chr5:74162311-74162967	HepG2	liver:	n/a	chr5:74162394-74162403
45	JUND	chr5:74162643-74162893	HepG2	liver:	n/a	n/a
46	EP300	chr5:74162086-74163197	HepG2	liver:	n/a	chr5:74162394-74162403 chr5:74162246-74162255 chr5:74162272-74162288
47	MBD4	chr5:74162409-74163069	HepG2	liver:	n/a	n/a
48	TBP	chr5:74161272-74162981	HepG2	liver:	n/a	n/a
49	NFIC	chr5:74162493-74163037	HepG2	liver:	n/a	n/a
50	POLR2A	chr5:74161278-74162982	HepG2	liver:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:74162809-74162859	RPTEC	kidney:	n/a
2	chr5:74162809-74162859	AoSMC	blood vessel:	n/a
3	chr5:74162771-74162821	PANC-1	pancreas:	n/a
4	chr5:74162809-74162859	NB4	blood:	n/a
5	chr5:74162809-74162859	CMK	blood:	n/a
6	chr5:74162809-74162859	AG04449	skin:	fetal
7	chr5:74162809-74162859	Jurkat	blood:	n/a
8	chr5:74162771-74162821	NH-A	brain:	n/a
9	chr5:74162809-74162859	BE2_C	brain:	n/a
10	chr5:74162771-74162821	HIPEpiC	eye:	n/a
11	chr5:74162771-74162821	ECC-1	luminal epithelium:	n/a
12	chr5:74162809-74162859	HRPEpiC	eye:	n/a
13	chr5:74162809-74162859	GM06990	blood:	n/a
14	chr5:74162771-74162821	PFSK-1	brain:	n/a
15	chr5:74162809-74162859	HIPEpiC	eye:	n/a
16	chr5:74162771-74162821	Jurkat	blood:	n/a
17	chr5:74162809-74162859	HL-60	blood:	n/a
18	chr5:74162771-74162821	GM12878	blood:	n/a
19	chr5:74162771-74162821	Hepatocyte	liver:	n/a
20	chr5:74162809-74162859	Hepatocyte	liver:	n/a
21	chr5:74162771-74162821	HCM	heart:	n/a
22	chr5:74162771-74162821	NB4	blood:	n/a
23	chr5:74162771-74162821	Hela-S3	cervix:	n/a
24	chr5:74162809-74162859	K562	blood:	n/a
25	chr5:74162809-74162859	MCF-7	breast:	n/a
26	chr5:74162771-74162821	AG09309	skin:	n/a
27	chr5:74162809-74162859	GM12891	blood:	n/a
28	chr5:74162809-74162859	SAEC	small airway:	n/a
29	chr5:74162809-74162859	AG09319	gingival:	n/a
30	chr5:74162809-74162859	LNCaP	prostate:	n/a
31	chr5:74162809-74162859	PANC-1	pancreas:	n/a
32	chr5:74162771-74162821	HCF	heart:	n/a
33	chr5:74162809-74162859	BJ	skin:	n/a
34	chr5:74162809-74162859	ovcar-3	ovarian:	n/a
35	chr5:74162771-74162821	K562	blood:	n/a
36	chr5:74162809-74162859	GM12878	blood:	n/a
37	chr5:74162809-74162859	HCT-116	colon:	n/a
38	chr5:74162771-74162821	PrEC	prostate:	n/a
39	chr5:74162771-74162821	HEEpiC	esophagus:	n/a
40	chr5:74162771-74162821	HNPCEpiC	eye:	n/a
41	chr5:74162809-74162859	HMEC	breast:	n/a
42	chr5:74162809-74162859	PFSK-1	brain:	n/a
43	chr5:74162771-74162821	NHBE	bronchial:	n/a
44	chr5:74162771-74162821	GM12891	blood:	n/a
45	chr5:74162771-74162821	SK-N-SH_RA	brain:	n/a
46	chr5:74162771-74162821	AG09319	gingival:	n/a
47	chr5:74162771-74162821	ovcar-3	ovarian:	n/a
48	chr5:74162771-74162821	AoSMC	blood vessel:	n/a
49	chr5:74162771-74162821	GM12892	blood:	n/a
50	chr5:74162771-74162821	HepG2	liver:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NSA2-6	chr5:74161718-74163679	ENSG00000271714.1

No data

Variant related genes	Relation type
FAM169A	TF binding region
FAM169A	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	esv3338870	chr5:74159996-74164294	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3502490	chr5:74160996-74163344	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3502491	chr5:74160996-74163344	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74158600-74163000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr5:74158800-74163800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:74159400-74163000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:74159400-74163000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr5:74159400-74163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr5:74159800-74163000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:74160000-74163000	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:74160200-74163000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:74160200-74163000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:74160400-74163000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:74160400-74163000	Active TSS	Brain Angular Gyrus	brain
12	chr5:74160400-74163200	Active TSS	Brain Cingulate Gyrus	brain
13	chr5:74160600-74163000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:74160600-74163000	Active TSS	Fetal Kidney	kidney
15	chr5:74160600-74163000	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr5:74160800-74163000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:74160800-74163000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:74160800-74163000	Active TSS	Brain Anterior Caudate	brain
19	chr5:74161000-74163000	Active TSS	Ovary	ovary
20	chr5:74161000-74163000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr5:74161400-74163000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:74161400-74163000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
23	chr5:74161600-74163000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:74161600-74163000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:74161600-74163000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr5:74161600-74163200	Active TSS	HepG2	liver
27	chr5:74161800-74163000	Active TSS	Fetal Brain Female	brain
28	chr5:74162400-74163000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:74162400-74163000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
30	chr5:74162400-74163000	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr5:74162400-74163000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr5:74162400-74163000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:74162400-74163000	Flanking Active TSS	Liver	Liver
34	chr5:74162400-74163000	Active TSS	Right Atrium	heart
35	chr5:74162400-74163000	Active TSS	Right Ventricle	heart
36	chr5:74162400-74163200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:74162400-74163400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:74162600-74163000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:74162600-74163000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:74162600-74163000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr5:74162600-74163000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:74162600-74163000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr5:74162600-74163000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr5:74162600-74163000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:74162600-74163000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:74162600-74163000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr5:74162600-74163000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:74162600-74163000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr5:74162600-74163000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr5:74162600-74163000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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