Variant report

Variant	rs568907420
Chromosome Location	chr5:41510742-41510743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:41510346-41511070	A549	lung:	n/a	n/a
2	ZNF263	chr5:41510140-41511527	HEK293-T-REx	kidney:	n/a	chr5:41510895-41510904
3	MAX	chr5:41510250-41510806	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr5:41510152-41510900	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:41510700-41510850	SK-N-SH_RA	brain:	n/a	chr5:41510750-41510763
6	MXI1	chr5:41505509-41512066	SK-N-SH	brain:	n/a	chr5:41510474-41510483
7	MAX	chr5:41510294-41510859	MCF-7	breast:	n/a	n/a
8	TEAD4	chr5:41510489-41510751	H1-hESC	embryonic stem cell:	n/a	n/a
9	HDAC2	chr5:41510358-41510909	MCF-7	breast:	n/a	chr5:41510703-41510712
10	FOXA1	chr5:41510524-41510844	HepG2	liver:	n/a	n/a
11	FOXA2	chr5:41510578-41510858	HepG2	liver:	n/a	n/a
12	FOXA2	chr5:41510419-41510869	A549	lung:	n/a	n/a
13	MAX	chr5:41510689-41510756	A549	lung:	n/a	n/a
14	E2F6	chr5:41510175-41510882	A549	lung:	n/a	n/a
15	MAX	chr5:41510248-41510916	SK-N-SH	brain:	n/a	n/a
16	MAX	chr5:41510030-41510959	A549	lung:	n/a	n/a
17	POLR2A	chr5:41510196-41510822	H1-neurons	neurons:	n/a	n/a
18	ZNF143	chr5:41510485-41510867	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr5:41510582-41510771	H1-hESC	embryonic stem cell:	n/a	n/a
20	FOXA1	chr5:41510489-41510823	HepG2	liver:	n/a	n/a
21	SIN3A	chr5:41510546-41510886	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr5:41510098-41510901	SK-N-SH	brain:	n/a	n/a
23	REST	chr5:41510283-41510830	SK-N-SH	brain:	n/a	n/a
24	CTCF	chr5:41510640-41510790	SK-N-SH_RA	brain:	n/a	chr5:41510750-41510763
25	MAX	chr5:41510132-41510876	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:41510397-41510748	MCF-7	breast:	n/a	n/a
27	RAD21	chr5:41510158-41510952	H1-hESC	embryonic stem cell:	n/a	chr5:41510749-41510763
28	MAX	chr5:41510422-41510881	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr5:41510139-41510904	A549	lung:	n/a	n/a
30	E2F6	chr5:41510015-41510802	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr5:41509981-41511021	H1-neurons	neurons:	n/a	n/a
32	E2F6	chr5:41509966-41510887	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:41510524-41510841	SK-N-SH	brain:	n/a	n/a
34	FOXA1	chr5:41510612-41510832	T-47D	breast:	n/a	n/a
35	FOXA1	chr5:41510557-41510814	T-47D	breast:	n/a	n/a
36	FOXP2	chr5:41510542-41510802	SK-N-MC	brain:	n/a	n/a
37	MYC	chr5:41510504-41510756	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41510742-41510792	GM06990	blood:	n/a
2	chr5:41510742-41510792	NHDF-neo	bronchial:	n/a
3	chr5:41510742-41510792	HCM	heart:	n/a
4	chr5:41510742-41510792	HL-60	blood:	n/a
5	chr5:41510742-41510792	H1-hESC	embryonic stem cell:	embryo
6	chr5:41510742-41510792	AG09319	gingival:	n/a
7	chr5:41510742-41510792	HCF	heart:	n/a
8	chr5:41510742-41510792	AoSMC	blood vessel:	n/a
9	chr5:41510742-41510792	ProgFib	skin:	n/a
10	chr5:41510742-41510792	GM19239	blood:	n/a
11	chr5:41510742-41510792	SAEC	small airway:	n/a
12	chr5:41510742-41510792	BJ	skin:	n/a
13	chr5:41510742-41510792	ECC-1	luminal epithelium:	n/a
14	chr5:41510742-41510792	Hela-S3	cervix:	n/a
15	chr5:41510742-41510792	U87	brain:	n/a
16	chr5:41510742-41510792	MCF10A-Er-Src	breast:	n/a
17	chr5:41510742-41510792	HRPEpiC	eye:	n/a
18	chr5:41510742-41510792	HIPEpiC	eye:	n/a
19	chr5:41510742-41510792	HCPEpiC	choroid plexus:	n/a
20	chr5:41510742-41510792	NB4	blood:	n/a
21	chr5:41510742-41510792	HRCEpiC	kidney:	n/a
22	chr5:41510742-41510792	PANC-1	pancreas:	n/a
23	chr5:41510742-41510792	IMR90	lung:	fetal
24	chr5:41510742-41510792	HMEC	breast:	n/a
25	chr5:41510742-41510792	HepG2	liver:	n/a
26	chr5:41510742-41510792	LNCaP	prostate:	n/a
27	chr5:41510742-41510792	ovcar-3	ovarian:	n/a
28	chr5:41510742-41510792	GM12892	blood:	n/a
29	chr5:41510742-41510792	GM12878	blood:	n/a
30	chr5:41510742-41510792	HAEpiC	amniotic membrane:	n/a
31	chr5:41510742-41510792	SK-N-SH	brain:	n/a
32	chr5:41510742-41510792	Caco-2	colon:	n/a
33	chr5:41510742-41510792	GM12891	blood:	n/a
34	chr5:41510742-41510792	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:41510742-41510792	HEK293	kidney:	embryo
36	chr5:41510742-41510792	HUVEC	blood vessel:	n/a
37	chr5:41510742-41510792	HCT-116	colon:	n/a
38	chr5:41510742-41510792	CMK	blood:	n/a
39	chr5:41510742-41510792	HNPCEpiC	eye:	n/a
40	chr5:41510742-41510792	HRE	kidney:	n/a
41	chr5:41510742-41510792	A549	lung:	n/a
42	chr5:41510742-41510792	NH-A	brain:	n/a
43	chr5:41510742-41510792	T-47D	breast:	n/a
44	chr5:41510742-41510792	AG09309	skin:	n/a
45	chr5:41510742-41510792	AG10803	skin:	n/a
46	chr5:41510742-41510792	SK-N-MC	brain:	n/a
47	chr5:41510742-41510792	AG04450	lung:	fetal
48	chr5:41510742-41510792	NT2-D1	testis:	n/a
49	chr5:41510742-41510792	BE2_C	brain:	n/a
50	chr5:41510742-41510792	AG04449	skin:	fetal

No data

Variant related genes	Relation type
PLCXD3	TF binding region
PLCXD3	CpG island

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv969281	chr5:41509672-41514269	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41505600-41511400	Active TSS	Right Atrium	heart
2	chr5:41505800-41511400	Active TSS	Right Ventricle	heart
3	chr5:41506800-41511000	Active TSS	Ovary	ovary
4	chr5:41507800-41511200	Active TSS	Left Ventricle	heart
5	chr5:41508000-41511000	Active TSS	Fetal Heart	heart
6	chr5:41508200-41511400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:41508400-41511000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:41509400-41510800	Flanking Active TSS	Pancreas	Pancrea
9	chr5:41509400-41511000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr5:41509400-41511200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr5:41509400-41511200	Active TSS	Brain Substantia Nigra	brain
12	chr5:41509600-41510800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:41509600-41510800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
14	chr5:41509600-41510800	ZNF genes & repeats	Spleen	Spleen
15	chr5:41509600-41511000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
16	chr5:41509600-41511000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
17	chr5:41509800-41510800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:41509800-41510800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr5:41509800-41510800	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr5:41509800-41510800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
21	chr5:41509800-41511200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr5:41509800-41511200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:41509800-41511200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:41509800-41511200	Active TSS	Aorta	Aorta
25	chr5:41509800-41511200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr5:41509800-41511200	Bivalent Enhancer	Fetal Lung	lung
27	chr5:41510000-41510800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:41510000-41510800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr5:41510000-41510800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
30	chr5:41510000-41510800	Bivalent/Poised TSS	NHLF	lung
31	chr5:41510000-41511000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:41510000-41511000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:41510000-41511200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:41510000-41511200	Bivalent/Poised TSS	NH-A	brain
35	chr5:41510200-41510800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:41510200-41510800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:41510200-41510800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:41510200-41510800	Flanking Active TSS	Liver	Liver
39	chr5:41510200-41510800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr5:41510200-41510800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr5:41510200-41510800	Flanking Active TSS	Gastric	stomach
42	chr5:41510200-41510800	Active TSS	Psoas Muscle	Psoas
43	chr5:41510200-41510800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
44	chr5:41510200-41511000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr5:41510200-41511200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr5:41510200-41511400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr5:41510200-41511400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
48	chr5:41510200-41511400	Active TSS	A549	lung
49	chr5:41510400-41510800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:41510400-41510800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung

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