Variant report

Variant	rs542812916
Chromosome Location	chr5:178368303-178368304
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:178368180-178368330	AG04449	skin:	n/a	n/a
2	POLR2A	chr5:178367711-178368522	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:178368189-178368469	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:178368026-178368420	H1-neurons	neurons:	n/a	n/a
5	TAF1	chr5:178368002-178368330	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:178368006-178368410	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr5:178368039-178368327	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr5:178367874-178368441	H1-hESC	embryonic stem cell:	n/a	chr5:178368184-178368193
9	TAF1	chr5:178367708-178368396	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr5:178368160-178368310	HCPEpiC	choroid plexus:	n/a	n/a
11	MXI1	chr5:178367375-178368905	SK-N-SH	brain:	n/a	chr5:178368168-178368183
12	GTF2F1	chr5:178368208-178368328	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr5:178368180-178368330	SK-N-SH_RA	brain:	n/a	n/a
14	NRF1	chr5:178367767-178368521	SK-N-SH	brain:	n/a	chr5:178368183-178368197 chr5:178368180-178368194 chr5:178368183-178368192 chr5:178368183-178368194
15	ZNF143	chr5:178367613-178368324	H1-hESC	embryonic stem cell:	n/a	chr5:178368099-178368117
16	MAX	chr5:178367876-178368469	H1-hESC	embryonic stem cell:	n/a	chr5:178368174-178368183
17	CTCF	chr5:178368160-178368310	SK-N-SH_RA	brain:	n/a	n/a
18	E2F6	chr5:178367319-178368602	H1-hESC	embryonic stem cell:	n/a	chr5:178368184-178368193
19	CTCF	chr5:178368160-178368310	HPF	lung:	n/a	n/a
20	MAX	chr5:178367363-178368443	H1-hESC	embryonic stem cell:	n/a	chr5:178368174-178368183
21	TBP	chr5:178367949-178368308	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178368253-178368303	A549	lung:	n/a
2	chr5:178368253-178368303	HUVEC	blood vessel:	n/a
3	chr5:178368253-178368303	HEEpiC	esophagus:	n/a
4	chr5:178368253-178368303	Hepatocyte	liver:	n/a
5	chr5:178368253-178368303	HepG2	liver:	n/a
6	chr5:178368253-178368303	HEK293	kidney:	embryo
7	chr5:178368253-178368303	SAEC	small airway:	n/a
8	chr5:178368253-178368303	HL-60	blood:	n/a
9	chr5:178368253-178368303	RPTEC	kidney:	n/a
10	chr5:178368253-178368303	HNPCEpiC	eye:	n/a
11	chr5:178368253-178368303	AG04449	skin:	fetal
12	chr5:178368253-178368303	HIPEpiC	eye:	n/a
13	chr5:178368253-178368303	PFSK-1	brain:	n/a
14	chr5:178368253-178368303	T-47D	breast:	n/a
15	chr5:178368253-178368303	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:178368253-178368303	ProgFib	skin:	n/a
17	chr5:178368253-178368303	GM19239	blood:	n/a
18	chr5:178368253-178368303	SK-N-MC	brain:	n/a
19	chr5:178368253-178368303	K562	blood:	n/a
20	chr5:178368253-178368303	GM06990	blood:	n/a
21	chr5:178368253-178368303	U87	brain:	n/a
22	chr5:178368253-178368303	HRPEpiC	eye:	n/a
23	chr5:178368253-178368303	GM12878	blood:	n/a
24	chr5:178368253-178368303	MCF10A-Er-Src	breast:	n/a
25	chr5:178368253-178368303	SK-N-SH_RA	brain:	n/a
26	chr5:178368253-178368303	NHBE	bronchial:	n/a
27	chr5:178368253-178368303	Caco-2	colon:	n/a
28	chr5:178368253-178368303	HCPEpiC	choroid plexus:	n/a
29	chr5:178368253-178368303	HMEC	breast:	n/a
30	chr5:178368253-178368303	ovcar-3	ovarian:	n/a
31	chr5:178368253-178368303	GM12891	blood:	n/a
32	chr5:178368253-178368303	AoSMC	blood vessel:	n/a
33	chr5:178368253-178368303	NH-A	brain:	n/a
34	chr5:178368253-178368303	BE2_C	brain:	n/a
35	chr5:178368253-178368303	PrEC	prostate:	n/a
36	chr5:178368253-178368303	AG04450	lung:	fetal
37	chr5:178368253-178368303	MCF-7	breast:	n/a
38	chr5:178368253-178368303	ECC-1	luminal epithelium:	n/a
39	chr5:178368253-178368303	SK-N-SH	brain:	n/a
40	chr5:178368253-178368303	HRCEpiC	kidney:	n/a
41	chr5:178368253-178368303	AG09309	skin:	n/a
42	chr5:178368253-178368303	Hela-S3	cervix:	n/a
43	chr5:178368253-178368303	IMR90	lung:	fetal
44	chr5:178368253-178368303	AG09319	gingival:	n/a
45	chr5:178368253-178368303	Jurkat	blood:	n/a
46	chr5:178368253-178368303	NT2-D1	testis:	n/a
47	chr5:178368253-178368303	AG10803	skin:	n/a
48	chr5:178368253-178368303	PANC-1	pancreas:	n/a
49	chr5:178368253-178368303	HAEpiC	amniotic membrane:	n/a
50	chr5:178368253-178368303	GM12892	blood:	n/a

No data

Variant related genes	Relation type
ZNF454	TF binding region
ENSG00000272431	TF binding region
ENSG00000272431	CpG island
ZNF454	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	nsv600489	chr5:178368096-178430375	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178352400-178369200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:178353800-178374800	ZNF genes & repeats	Liver	Liver
3	chr5:178362800-178369000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr5:178363200-178369000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr5:178363800-178369000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:178364000-178368800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
7	chr5:178364600-178369200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr5:178365200-178369200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:178366000-178370200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
10	chr5:178366400-178369000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr5:178366400-178369200	ZNF genes & repeats	Lung	lung
12	chr5:178366400-178372600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:178366600-178369000	Active TSS	Stomach Mucosa	stomach
14	chr5:178366800-178368800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:178366800-178368800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
16	chr5:178366800-178368800	Active TSS	Brain Angular Gyrus	brain
17	chr5:178366800-178369000	Active TSS	Brain Cingulate Gyrus	brain
18	chr5:178366800-178369000	ZNF genes & repeats	HSMMtube	muscle
19	chr5:178366800-178370200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
20	chr5:178366800-178370200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr5:178366800-178370400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:178367000-178368600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr5:178367000-178368800	Active TSS	Psoas Muscle	Psoas
24	chr5:178367000-178369000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
25	chr5:178367000-178369000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:178367000-178370400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr5:178367000-178374600	ZNF genes & repeats	Spleen	Spleen
28	chr5:178367200-178368400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:178367200-178368400	Active TSS	Stomach Smooth Muscle	stomach
30	chr5:178367200-178368600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:178367200-178368600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:178367200-178368600	Active TSS	Fetal Intestine Small	intestine
33	chr5:178367200-178368600	Active TSS	Ovary	ovary
34	chr5:178367200-178368800	Active TSS	Colon Smooth Muscle	Colon
35	chr5:178367200-178368800	Active TSS	NHDF-Ad	bronchial
36	chr5:178367200-178368800	ZNF genes & repeats	NHEK	skin
37	chr5:178367200-178368800	Active TSS	NHLF	lung
38	chr5:178367200-178369000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:178367200-178369000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:178367200-178369000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:178367200-178369000	Active TSS	Right Atrium	heart
42	chr5:178367200-178369000	ZNF genes & repeats	HSMM	muscle
43	chr5:178367200-178369000	Active TSS	Osteobl	bone
44	chr5:178367200-178369200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr5:178367400-178368600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:178367400-178368600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:178367400-178368600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:178367400-178368600	ZNF genes & repeats	Aorta	Aorta
49	chr5:178367400-178368600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr5:178367400-178368600	Active TSS	Fetal Heart	heart

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