Variant report

Variant	rs145380074
Chromosome Location	chr4:119757897-119757898
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:119757004-119758070	HCT-116	colon:	n/a	n/a
2	MAX	chr4:119756945-119758191	A549	lung:	n/a	chr4:119756968-119756978
3	BHLHE40	chr4:119757086-119757957	K562	blood:	n/a	n/a
4	USF2	chr4:119757436-119758000	Hela-S3	cervix:	n/a	n/a
5	MAX	chr4:119757434-119757973	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF12	chr4:119757336-119758092	A549	lung:	n/a	n/a
7	MAX	chr4:119757042-119757932	HepG2	liver:	n/a	n/a
8	MAX	chr4:119757057-119758053	SK-N-SH	brain:	n/a	n/a
9	CTCF	chr4:119757820-119757970	HBMEC	blood vessel:	n/a	n/a
10	NRF1	chr4:119756049-119758280	SK-N-SH	brain:	n/a	chr4:119757339-119757348 chr4:119757339-119757350 chr4:119757338-119757349 chr4:119757339-119757353 chr4:119757335-119757344 chr4:119757336-119757350
11	POLR2A	chr4:119756880-119758376	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr4:119756022-119757918	GM12892	blood:	n/a	n/a
13	REST	chr4:119757443-119758047	SK-N-SH	brain:	n/a	chr4:119757815-119757828
14	MAX	chr4:119757016-119758092	A549	lung:	n/a	n/a
15	MAX	chr4:119756687-119758047	HepG2	liver:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
16	POLR2A	chr4:119757039-119758041	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELF1	chr4:119756970-119757907	GM12878	blood:	n/a	chr4:119757331-119757343
18	MYC	chr4:119757089-119758013	K562	blood:	n/a	n/a
19	MAX	chr4:119757023-119757944	K562	blood:	n/a	n/a
20	POLR2A	chr4:119757043-119758027	K562	blood:	n/a	n/a
21	REST	chr4:119756933-119758033	HL-60	blood:	n/a	chr4:119757108-119757118 chr4:119757815-119757828
22	E2F6	chr4:119756937-119758057	K562	blood:	n/a	chr4:119757294-119757303 chr4:119756964-119756976 chr4:119757191-119757203 chr4:119757319-119757329 chr4:119757340-119757349
23	TBP	chr4:119756852-119758032	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAFK	chr4:119757165-119758080	K562	blood:	n/a	n/a
25	MYC	chr4:119757611-119757917	MCF-7	breast:	n/a	n/a
26	MAX	chr4:119756058-119758135	HCT-116	colon:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
27	ZNF263	chr4:119756119-119758168	HEK293-T-REx	kidney:	n/a	chr4:119756240-119756249 chr4:119757553-119757562
28	CREB1	chr4:119756998-119758075	H1-hESC	embryonic stem cell:	n/a	chr4:119757268-119757281
29	GTF2F1	chr4:119757163-119757959	K562	blood:	n/a	n/a
30	TAF1	chr4:119756684-119757904	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr4:119757017-119757942	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:119754628-119758338	HepG2	liver:	n/a	n/a
33	ELF1	chr4:119756785-119757939	GM12878	blood:	n/a	chr4:119757331-119757343 chr4:119756969-119756981
34	MAX	chr4:119756763-119757937	GM12878	blood:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
35	POLR2A	chr4:119756039-119757977	GM18505	blood:	n/a	n/a
36	TBL1XR1	chr4:119757110-119757946	GM12878	blood:	n/a	n/a
37	MYC	chr4:119757200-119757978	H1-hESC	embryonic stem cell:	n/a	n/a
38	JUND	chr4:119757494-119758013	HepG2	liver:	n/a	n/a
39	MXI1	chr4:119757087-119757992	K562	blood:	n/a	n/a
40	MAZ	chr4:119756099-119757971	K562	blood:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
41	ELF1	chr4:119757172-119757997	HepG2	liver:	n/a	chr4:119757331-119757343
42	POLR2A	chr4:119756877-119758019	GM12892	blood:	n/a	n/a
43	WRNIP1	chr4:119757374-119758034	GM12878	blood:	n/a	n/a
44	STAT1	chr4:119757163-119757919	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:119756888-119758030	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr4:119756976-119758112	SK-N-SH	brain:	n/a	n/a
47	PML	chr4:119755978-119758028	GM12878	blood:	n/a	n/a
48	POLR2A	chr4:119757103-119758016	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr4:119757013-119757914	MCF10A-Er-Src	breast:	n/a	n/a
50	CHD2	chr4:119756806-119757969	H1-hESC	embryonic stem cell:	n/a	chr4:119757808-119757818 chr4:119756963-119756973

Variant related genes	Relation type
SEC24D	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv516777	chr4:119733366-119762951	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3377040	chr4:119756129-119758677	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3376985	chr4:119757182-119774736	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119755000-119758200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:119755200-119758200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:119755200-119758200	Active TSS	Aorta	Aorta
4	chr4:119755400-119758000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:119755400-119758200	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr4:119755400-119758200	Active TSS	HSMMtube	muscle
7	chr4:119755400-119758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:119755600-119758000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:119755600-119758000	Active TSS	NHDF-Ad	bronchial
10	chr4:119755600-119758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:119755600-119758400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:119755800-119758000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:119755800-119758200	Active TSS	Colonic Mucosa	Colon
14	chr4:119755800-119758200	Active TSS	Fetal Muscle Trunk	muscle
15	chr4:119755800-119758200	Active TSS	Right Atrium	heart
16	chr4:119755800-119758200	Active TSS	Right Ventricle	heart
17	chr4:119756000-119758000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr4:119756000-119758000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:119756000-119758000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:119756000-119758000	Active TSS	Placenta	Placenta
21	chr4:119756000-119758000	Active TSS	A549	lung
22	chr4:119756000-119758200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:119756000-119758200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:119756000-119758200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:119756000-119758200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:119756000-119758200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr4:119756000-119758200	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr4:119756000-119758200	Active TSS	Fetal Kidney	kidney
29	chr4:119756000-119758400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr4:119756000-119758400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:119756200-119758000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:119756200-119758000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:119756200-119758000	Active TSS	Esophagus	oesophagus
34	chr4:119756200-119758000	Active TSS	Left Ventricle	heart
35	chr4:119756200-119758000	Active TSS	Lung	lung
36	chr4:119756200-119758000	Active TSS	Ovary	ovary
37	chr4:119756200-119758200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:119756200-119758200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:119756200-119758400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:119756400-119758000	Active TSS	Gastric	stomach
41	chr4:119756400-119758000	Active TSS	Psoas Muscle	Psoas
42	chr4:119756400-119758000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr4:119756400-119758200	Active TSS	Fetal Lung	lung
44	chr4:119756600-119758000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr4:119756600-119758400	Active TSS	Brain Cingulate Gyrus	brain
46	chr4:119757200-119758600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:119757400-119758000	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr4:119757400-119758000	Bivalent/Poised TSS	HepG2	liver
49	chr4:119757400-119758200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr4:119757400-119758200	Flanking Active TSS	Adipose Nuclei	Adipose

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