Variant report

Variant	rs551761096
Chromosome Location	chr5:40680451-40680452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr5:40680376-40680484	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:40678901-40680830	H1-neurons	neurons:	n/a	n/a
3	SUZ12	chr5:40680066-40682391	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:40678244-40680457	NB4	blood:	n/a	n/a
5	MAX	chr5:40678144-40680687	NB4	blood:	n/a	n/a
6	POLR2A	chr5:40679045-40680651	MCF-7	breast:	n/a	n/a
7	MXI1	chr5:40680417-40683249	IMR90	lung:	n/a	n/a
8	TCF12	chr5:40679495-40680455	ECC-1	luminal epithelium:	n/a	chr5:40679806-40679813
9	ZNF143	chr5:40680018-40680669	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr5:40679949-40682335	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr5:40679505-40680715	H1-hESC	embryonic stem cell:	n/a	chr5:40679536-40679545
12	CHD2	chr5:40680077-40680938	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr5:40679061-40680761	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr5:40679479-40680805	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr5:40680447-40680560	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr5:40680347-40680812	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr5:40680355-40680740	PANC-1	pancreas:	n/a	n/a
18	MAX	chr5:40678934-40680545	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr5:40678798-40680512	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr5:40678843-40680600	A549	lung:	n/a	n/a
21	POLR2A	chr5:40678596-40680801	HL-60	blood:	n/a	n/a
22	POLR2A	chr5:40679281-40680482	PFSK-1	brain:	n/a	n/a
23	SMARCC1	chr5:40678796-40680595	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr5:40678968-40682262	H1-hESC	embryonic stem cell:	n/a	chr5:40679536-40679545
25	POLR2A	chr5:40677912-40680908	MCF10A-Er-Src	breast:	n/a	n/a
26	TFAP2A	chr5:40678997-40680533	Hela-S3	cervix:	n/a	chr5:40679529-40679537 chr5:40680073-40680088 chr5:40679529-40679537 chr5:40679529-40679537
27	POLR2A	chr5:40678513-40682518	HUVEC	blood vessel:	n/a	n/a
28	STAT1	chr5:40678305-40680617	Hela-S3	cervix:	n/a	chr5:40678336-40678347 chr5:40678826-40678840 chr5:40678828-40678837 chr5:40679028-40679042 chr5:40678829-40678838 chr5:40678832-40678840 chr5:40678844-40678852
29	POLR2A	chr5:40678769-40680678	Raji	blood:	n/a	n/a
30	E2F6	chr5:40680008-40680559	A549	lung:	n/a	n/a
31	SIN3A	chr5:40679995-40680810	H1-hESC	embryonic stem cell:	n/a	n/a
32	TCF7L2	chr5:40680087-40680730	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr5:40679512-40680590	IMR90	lung:	n/a	n/a
34	MAX	chr5:40678955-40680486	A549	lung:	n/a	n/a
35	ZNF263	chr5:40678777-40680788	HEK293-T-REx	kidney:	n/a	chr5:40679211-40679232
36	MXI1	chr5:40680398-40680506	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:40678982-40682429	HL-60	blood:	n/a	n/a
38	SMARCB1	chr5:40678966-40681830	Hela-S3	cervix:	n/a	n/a
39	MAX	chr5:40679030-40680521	ECC-1	luminal epithelium:	n/a	n/a
40	RAD21	chr5:40679973-40680630	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr5:40678974-40680522	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:40678570-40680751	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr5:40680012-40680647	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr5:40680100-40680554	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	chr5:40680416-40680466	AG04450	lung:	fetal
2	chr5:40680416-40680466	HCM	heart:	n/a
3	chr5:40680416-40680466	LNCaP	prostate:	n/a
4	chr5:40680416-40680466	NH-A	brain:	n/a
5	chr5:40680416-40680466	AG10803	skin:	n/a
6	chr5:40680416-40680466	HAEpiC	amniotic membrane:	n/a
7	chr5:40680416-40680466	K562	blood:	n/a
8	chr5:40680416-40680466	HCT-116	colon:	n/a
9	chr5:40680416-40680466	HIPEpiC	eye:	n/a
10	chr5:40680416-40680466	SKMC	muscle:	n/a
11	chr5:40680416-40680466	RPTEC	kidney:	n/a
12	chr5:40680416-40680466	HL-60	blood:	n/a
13	chr5:40680416-40680466	MCF10A-Er-Src	breast:	n/a
14	chr5:40680416-40680466	SAEC	small airway:	n/a
15	chr5:40680416-40680466	HEEpiC	esophagus:	n/a
16	chr5:40680416-40680466	PFSK-1	brain:	n/a
17	chr5:40680416-40680466	SK-N-MC	brain:	n/a
18	chr5:40680416-40680466	MCF-7	breast:	n/a
19	chr5:40680416-40680466	T-47D	breast:	n/a
20	chr5:40680416-40680466	A549	lung:	n/a
21	chr5:40680416-40680466	HRCEpiC	kidney:	n/a
22	chr5:40680416-40680466	PrEC	prostate:	n/a
23	chr5:40680416-40680466	U87	brain:	n/a
24	chr5:40680416-40680466	HEK293	kidney:	embryo
25	chr5:40680416-40680466	NHDF-neo	bronchial:	n/a
26	chr5:40680416-40680466	GM19239	blood:	n/a
27	chr5:40680416-40680466	GM06990	blood:	n/a
28	chr5:40680416-40680466	BE2_C	brain:	n/a
29	chr5:40680416-40680466	H1-hESC	embryonic stem cell:	embryo
30	chr5:40680416-40680466	Hela-S3	cervix:	n/a
31	chr5:40680416-40680466	ECC-1	luminal epithelium:	n/a
32	chr5:40680416-40680466	SK-N-SH	brain:	n/a
33	chr5:40680416-40680466	CMK	blood:	n/a
34	chr5:40680416-40680466	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:40680416-40680466	AoSMC	blood vessel:	n/a
36	chr5:40680416-40680466	AG09319	gingival:	n/a
37	chr5:40680416-40680466	HUVEC	blood vessel:	n/a
38	chr5:40680416-40680466	NT2-D1	testis:	n/a
39	chr5:40680416-40680466	IMR90	lung:	fetal
40	chr5:40680416-40680466	SK-N-SH_RA	brain:	n/a
41	chr5:40680416-40680466	Caco-2	colon:	n/a
42	chr5:40680416-40680466	PANC-1	pancreas:	n/a
43	chr5:40680416-40680466	NB4	blood:	n/a
44	chr5:40680416-40680466	ovcar-3	ovarian:	n/a
45	chr5:40680416-40680466	GM12891	blood:	n/a
46	chr5:40680416-40680466	HRE	kidney:	n/a
47	chr5:40680416-40680466	NHBE	bronchial:	n/a
48	chr5:40680416-40680466	Hepatocyte	liver:	n/a
49	chr5:40680416-40680466	ProgFib	skin:	n/a
50	chr5:40680416-40680466	Jurkat	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:75746315..75746996-chr5:40679492..40680585,3	Hela-S3	cervix:
2	chr5:40679791..40680505-chr9:140135439..140136378,2	Hela-S3	cervix:
3	chr19:42756164..42759141-chr5:40680173..40681787,2	MCF-7	breast:
4	chr3:150480176..150481089-chr5:40680039..40680660,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
PTGER4	TF binding region
PTGER4	CpG island
ENSG00000105722	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000188229	Chromatin interaction

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	nsv880993	chr5:40521648-40682550	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
2	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	esv3397684	chr5:40678645-40681143	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40677400-40680800	Active TSS	Duodenum Mucosa	Duodenum
2	chr5:40677400-40681000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr5:40677800-40681000	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr5:40678200-40680800	Active TSS	Dnd41	blood
5	chr5:40678400-40680800	Active TSS	A549	lung
6	chr5:40678400-40681000	Active TSS	Fetal Intestine Small	intestine
7	chr5:40678400-40681000	Active TSS	Thymus	Thymus
8	chr5:40678400-40681400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:40678400-40682000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:40678400-40683800	Active TSS	HSMM	muscle
11	chr5:40678400-40684600	Active TSS	HSMMtube	muscle
12	chr5:40678600-40680600	Active TSS	Stomach Mucosa	stomach
13	chr5:40678600-40680800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr5:40678600-40681000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:40678600-40681200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:40678600-40681200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr5:40678600-40681200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr5:40678600-40682200	Active TSS	NHEK	skin
19	chr5:40678600-40684400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr5:40678600-40685800	Active TSS	Right Atrium	heart
21	chr5:40678800-40680600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:40678800-40680800	Active TSS	HMEC	breast
23	chr5:40678800-40681000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:40678800-40681000	Active TSS	NHDF-Ad	bronchial
25	chr5:40678800-40681200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:40678800-40681200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:40678800-40683000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:40679000-40680600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr5:40679000-40680800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:40679000-40681000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:40679000-40681000	Active TSS	Esophagus	oesophagus
32	chr5:40679000-40681200	Active TSS	Left Ventricle	heart
33	chr5:40679000-40681200	Active TSS	Pancreas	Pancrea
34	chr5:40679000-40681200	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr5:40679000-40681400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr5:40679000-40681400	Active TSS	Gastric	stomach
37	chr5:40679000-40682000	Active TSS	Aorta	Aorta
38	chr5:40679000-40682400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:40679000-40685600	Active TSS	Colon Smooth Muscle	Colon
40	chr5:40679000-40689400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr5:40679200-40680600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr5:40679200-40680800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:40679200-40681400	Active TSS	HUVEC	blood vessel
44	chr5:40679200-40682200	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr5:40679200-40684000	Active TSS	Small Intestine	intestine
46	chr5:40679200-40684600	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr5:40679200-40684800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:40679200-40685000	Active TSS	NHLF	lung
49	chr5:40679400-40680600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr5:40679400-40680600	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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