Variant report

Variant	rs560460641
Chromosome Location	chr5:74162621-74162622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:101)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:101 , 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	POLR2A	chr5:74162494-74162798	HepG2	liver:	n/a	n/a
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	TCF7L2	chr5:74162589-74163523	HepG2	liver:	n/a	chr5:74163271-74163285 chr5:74163285-74163294
15	NFIC	chr5:74162554-74163265	HepG2	liver:	n/a	n/a
16	MXI1	chr5:74161189-74163023	HepG2	liver:	n/a	n/a
17	POLR2A	chr5:74161305-74162851	HCT-116	colon:	n/a	n/a
18	REST	chr5:74162448-74163013	HepG2	liver:	n/a	n/a
19	MYBL2	chr5:74162344-74163138	HepG2	liver:	n/a	chr5:74162869-74162883
20	YY1	chr5:74162443-74162903	H1-hESC	embryonic stem cell:	n/a	n/a
21	FOXA1	chr5:74162515-74162996	HepG2	liver:	n/a	n/a
22	POLR2A	chr5:74161505-74162913	HCT-116	colon:	n/a	n/a
23	POLR2A	chr5:74160759-74163043	HepG2	liver:	n/a	n/a
24	TCF7L2	chr5:74161511-74162958	HCT-116	colon:	n/a	n/a
25	RCOR1	chr5:74162550-74163017	HepG2	liver:	n/a	n/a
26	ZNF263	chr5:74160620-74162789	HEK293-T-REx	kidney:	n/a	n/a
27	CTBP2	chr5:74161126-74162967	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:74161120-74162928	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:74161267-74162738	HEK293	kidney:	n/a	n/a
30	POLR2A	chr5:74161389-74162762	MCF-7	breast:	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	TAF1	chr5:74162517-74162789	HepG2	liver:	n/a	n/a
33	CREB1	chr5:74161764-74162679	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	HDAC2	chr5:74161560-74163061	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:74161506-74162811	GM19193	blood:	n/a	n/a
44	EP300	chr5:74162311-74162967	HepG2	liver:	n/a	chr5:74162394-74162403
45	EP300	chr5:74162086-74163197	HepG2	liver:	n/a	chr5:74162394-74162403 chr5:74162246-74162255 chr5:74162272-74162288
46	CREB1	chr5:74161961-74162669	H1-hESC	embryonic stem cell:	n/a	n/a
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	chr5:74162621-74162671	AG04450	lung:	fetal
2	chr5:74162602-74162652	LNCaP	prostate:	n/a
3	chr5:74162621-74162671	A549	lung:	n/a
4	chr5:74162602-74162652	AG10803	skin:	n/a
5	chr5:74162602-74162652	GM12892	blood:	n/a
6	chr5:74162621-74162671	HEEpiC	esophagus:	n/a
7	chr5:74162602-74162652	ProgFib	skin:	n/a
8	chr5:74162602-74162652	ovcar-3	ovarian:	n/a
9	chr5:74162602-74162652	HRE	kidney:	n/a
10	chr5:74162621-74162671	HCT-116	colon:	n/a
11	chr5:74162602-74162652	HCM	heart:	n/a
12	chr5:74162602-74162652	SKMC	muscle:	n/a
13	chr5:74162621-74162671	ovcar-3	ovarian:	n/a
14	chr5:74162602-74162652	PrEC	prostate:	n/a
15	chr5:74162602-74162652	SK-N-SH_RA	brain:	n/a
16	chr5:74162621-74162671	HRPEpiC	eye:	n/a
17	chr5:74162602-74162652	MCF-7	breast:	n/a
18	chr5:74162621-74162671	HPAEpiC	pulmonary alveolar:	n/a
19	chr5:74162602-74162652	HCPEpiC	choroid plexus:	n/a
20	chr5:74162621-74162671	HL-60	blood:	n/a
21	chr5:74162621-74162671	HIPEpiC	eye:	n/a
22	chr5:74162621-74162671	HCM	heart:	n/a
23	chr5:74162621-74162671	HRE	kidney:	n/a
24	chr5:74162621-74162671	SK-N-SH_RA	brain:	n/a
25	chr5:74162602-74162652	HAEpiC	amniotic membrane:	n/a
26	chr5:74162602-74162652	GM06990	blood:	n/a
27	chr5:74162621-74162671	AG09309	skin:	n/a
28	chr5:74162621-74162671	AG09319	gingival:	n/a
29	chr5:74162602-74162652	H1-hESC	embryonic stem cell:	embryo
30	chr5:74162602-74162652	HL-60	blood:	n/a
31	chr5:74162621-74162671	Jurkat	blood:	n/a
32	chr5:74162621-74162671	MCF-7	breast:	n/a
33	chr5:74162602-74162652	HCT-116	colon:	n/a
34	chr5:74162602-74162652	GM12891	blood:	n/a
35	chr5:74162621-74162671	HNPCEpiC	eye:	n/a
36	chr5:74162602-74162652	AG09309	skin:	n/a
37	chr5:74162602-74162652	HPAEpiC	pulmonary alveolar:	n/a
38	chr5:74162602-74162652	AoSMC	blood vessel:	n/a
39	chr5:74162602-74162652	HEEpiC	esophagus:	n/a
40	chr5:74162602-74162652	AG04450	lung:	fetal
41	chr5:74162621-74162671	PANC-1	pancreas:	n/a
42	chr5:74162621-74162671	Caco-2	colon:	n/a
43	chr5:74162621-74162671	HEK293	kidney:	embryo
44	chr5:74162621-74162671	LNCaP	prostate:	n/a
45	chr5:74162602-74162652	K562	blood:	n/a
46	chr5:74162621-74162671	NB4	blood:	n/a
47	chr5:74162602-74162652	Hepatocyte	liver:	n/a
48	chr5:74162602-74162652	GM12878	blood:	n/a
49	chr5:74162602-74162652	T-47D	breast:	n/a
50	chr5:74162621-74162671	BE2_C	brain:	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:109 , 50 per page) page: 1 2 3

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	chr5:74159000-74162800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr5:74159400-74163000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:74159400-74163000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:74159400-74163800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr5:74159600-74162800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:74159800-74163000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr5:74160000-74162800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr5:74160000-74163000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr5:74160200-74163000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:74160200-74163000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:74160400-74162800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr5:74160400-74163000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:74160400-74163000	Active TSS	Brain Angular Gyrus	brain
16	chr5:74160400-74163200	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:74160600-74163000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:74160600-74163000	Active TSS	Fetal Kidney	kidney
19	chr5:74160600-74163000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:74160800-74162800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:74160800-74162800	Active TSS	Brain Substantia Nigra	brain
22	chr5:74160800-74163000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:74160800-74163000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:74160800-74163000	Active TSS	Brain Anterior Caudate	brain
25	chr5:74161000-74163000	Active TSS	Ovary	ovary
26	chr5:74161000-74163000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr5:74161200-74162800	Active TSS	HSMM	muscle
28	chr5:74161200-74162800	Active TSS	HSMMtube	muscle
29	chr5:74161200-74162800	Bivalent/Poised TSS	Osteobl	bone
30	chr5:74161400-74162800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:74161400-74162800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:74161400-74162800	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr5:74161400-74162800	Active TSS	A549	lung
34	chr5:74161400-74163000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:74161400-74163000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr5:74161600-74162800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr5:74161600-74162800	Active TSS	Colon Smooth Muscle	Colon
38	chr5:74161600-74163000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr5:74161600-74163000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:74161600-74163000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
41	chr5:74161600-74163200	Active TSS	HepG2	liver
42	chr5:74161800-74163000	Active TSS	Fetal Brain Female	brain
43	chr5:74162200-74162800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:74162200-74162800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:74162200-74162800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr5:74162400-74162800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
47	chr5:74162400-74162800	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr5:74162400-74162800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr5:74162400-74162800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:74162400-74162800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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