Variant report

Variant	rs531704001
Chromosome Location	chr4:119757689-119757690
allele	A/G
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	POLR2A	chr4:119757088-119757872	HCT-116	colon:	n/a	n/a
5	USF2	chr4:119757436-119758000	Hela-S3	cervix:	n/a	n/a
6	MAX	chr4:119757434-119757973	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr4:119757336-119758092	A549	lung:	n/a	n/a
8	MAX	chr4:119757042-119757932	HepG2	liver:	n/a	n/a
9	MAX	chr4:119757057-119758053	SK-N-SH	brain:	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	REST	chr4:119756181-119757699	H1-neurons	neurons:	n/a	chr4:119757108-119757118
12	POLR2A	chr4:119756880-119758376	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr4:119756022-119757918	GM12892	blood:	n/a	n/a
14	POLR2A	chr4:119756153-119757820	GM12878	blood:	n/a	n/a
15	REST	chr4:119757443-119758047	SK-N-SH	brain:	n/a	chr4:119757815-119757828
16	BACH1	chr4:119756162-119757694	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr4:119757580-119757825	K562	blood:	n/a	n/a
18	MAX	chr4:119757016-119758092	A549	lung:	n/a	n/a
19	MAX	chr4:119756687-119758047	HepG2	liver:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
20	POLR2A	chr4:119757039-119758041	H1-hESC	embryonic stem cell:	n/a	n/a
21	ELF1	chr4:119756970-119757907	GM12878	blood:	n/a	chr4:119757331-119757343
22	MYC	chr4:119757089-119758013	K562	blood:	n/a	n/a
23	MAX	chr4:119757023-119757944	K562	blood:	n/a	n/a
24	POLR2A	chr4:119757043-119758027	K562	blood:	n/a	n/a
25	REST	chr4:119756933-119758033	HL-60	blood:	n/a	chr4:119757108-119757118 chr4:119757815-119757828
26	E2F6	chr4:119756937-119758057	K562	blood:	n/a	chr4:119757294-119757303 chr4:119756964-119756976 chr4:119757191-119757203 chr4:119757319-119757329 chr4:119757340-119757349
27	TBP	chr4:119756852-119758032	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr4:119757165-119758080	K562	blood:	n/a	n/a
29	MYC	chr4:119757611-119757917	MCF-7	breast:	n/a	n/a
30	MAX	chr4:119756058-119758135	HCT-116	colon:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
31	ZNF263	chr4:119756119-119758168	HEK293-T-REx	kidney:	n/a	chr4:119756240-119756249 chr4:119757553-119757562
32	CREB1	chr4:119756998-119758075	H1-hESC	embryonic stem cell:	n/a	chr4:119757268-119757281
33	GTF2F1	chr4:119757163-119757959	K562	blood:	n/a	n/a
34	TAF1	chr4:119756684-119757904	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr4:119757017-119757942	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr4:119754628-119758338	HepG2	liver:	n/a	n/a
37	ELF1	chr4:119756785-119757939	GM12878	blood:	n/a	chr4:119757331-119757343 chr4:119756969-119756981
38	MAX	chr4:119756763-119757937	GM12878	blood:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
39	POLR2A	chr4:119756039-119757977	GM18505	blood:	n/a	n/a
40	TBL1XR1	chr4:119757110-119757946	GM12878	blood:	n/a	n/a
41	ARID3A	chr4:119757263-119757816	HepG2	liver:	n/a	n/a
42	RUNX3	chr4:119756729-119757895	GM12878	blood:	n/a	n/a
43	MYC	chr4:119757200-119757978	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr4:119757494-119758013	HepG2	liver:	n/a	n/a
45	MXI1	chr4:119757087-119757992	K562	blood:	n/a	n/a
46	MAZ	chr4:119756099-119757971	K562	blood:	n/a	chr4:119756968-119756978 chr4:119756862-119756872
47	ELF1	chr4:119757172-119757997	HepG2	liver:	n/a	chr4:119757331-119757343
48	POLR2A	chr4:119756877-119758019	GM12892	blood:	n/a	n/a
49	WRNIP1	chr4:119757374-119758034	GM12878	blood:	n/a	n/a
50	STAT3	chr4:119757131-119757791	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:119757682-119757732	A549	lung:	n/a
2	chr4:119757670-119757720	HAEpiC	amniotic membrane:	n/a
3	chr4:119757682-119757732	HRPEpiC	eye:	n/a
4	chr4:119757682-119757732	NHDF-neo	bronchial:	n/a
5	chr4:119757682-119757732	HNPCEpiC	eye:	n/a
6	chr4:119757670-119757720	AG10803	skin:	n/a
7	chr4:119757682-119757732	BJ	skin:	n/a
8	chr4:119757670-119757720	ProgFib	skin:	n/a
9	chr4:119757670-119757720	AG09319	gingival:	n/a
10	chr4:119757682-119757732	PANC-1	pancreas:	n/a
11	chr4:119757670-119757720	NHBE	bronchial:	n/a
12	chr4:119757682-119757732	HCPEpiC	choroid plexus:	n/a
13	chr4:119757682-119757732	PrEC	prostate:	n/a
14	chr4:119757670-119757720	SK-N-MC	brain:	n/a
15	chr4:119757682-119757732	MCF10A-Er-Src	breast:	n/a
16	chr4:119757670-119757720	IMR90	lung:	fetal
17	chr4:119757670-119757720	ECC-1	luminal epithelium:	n/a
18	chr4:119757670-119757720	HCF	heart:	n/a
19	chr4:119757670-119757720	NH-A	brain:	n/a
20	chr4:119757682-119757732	ProgFib	skin:	n/a
21	chr4:119757670-119757720	SK-N-SH	brain:	n/a
22	chr4:119757670-119757720	GM12891	blood:	n/a
23	chr4:119757682-119757732	HRE	kidney:	n/a
24	chr4:119757682-119757732	H1-hESC	embryonic stem cell:	embryo
25	chr4:119757670-119757720	BJ	skin:	n/a
26	chr4:119757670-119757720	GM19239	blood:	n/a
27	chr4:119757670-119757720	U87	brain:	n/a
28	chr4:119757682-119757732	SK-N-SH	brain:	n/a
29	chr4:119757682-119757732	BE2_C	brain:	n/a
30	chr4:119757682-119757732	MCF-7	breast:	n/a
31	chr4:119757682-119757732	NB4	blood:	n/a
32	chr4:119757670-119757720	BE2_C	brain:	n/a
33	chr4:119757682-119757732	ECC-1	luminal epithelium:	n/a
34	chr4:119757670-119757720	HepG2	liver:	n/a
35	chr4:119757670-119757720	HL-60	blood:	n/a
36	chr4:119757670-119757720	HEK293	kidney:	embryo
37	chr4:119757670-119757720	AG04449	skin:	fetal
38	chr4:119757682-119757732	HMEC	breast:	n/a
39	chr4:119757682-119757732	CMK	blood:	n/a
40	chr4:119757670-119757720	NT2-D1	testis:	n/a
41	chr4:119757670-119757720	AG04450	lung:	fetal
42	chr4:119757670-119757720	Caco-2	colon:	n/a
43	chr4:119757670-119757720	H1-hESC	embryonic stem cell:	embryo
44	chr4:119757682-119757732	AG09309	skin:	n/a
45	chr4:119757682-119757732	Hepatocyte	liver:	n/a
46	chr4:119757682-119757732	RPTEC	kidney:	n/a
47	chr4:119757670-119757720	K562	blood:	n/a
48	chr4:119757682-119757732	LNCaP	prostate:	n/a
49	chr4:119757682-119757732	NT2-D1	testis:	n/a
50	chr4:119757670-119757720	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119755459..119757778-chr4:120132797..120135484,2	K562	blood:
2	chr4:119755941..119757728-chr4:119758590..119760561,2	MCF-7	breast:

Variant related genes	Relation type
SEC24D	TF binding region
SEC24D	CpG island
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction
ENSG00000150961	Chromatin interaction

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	chr4:119755000-119757800	Active TSS	NHLF	lung
2	chr4:119755000-119758200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:119755200-119758200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:119755200-119758200	Active TSS	Aorta	Aorta
5	chr4:119755400-119757800	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr4:119755400-119757800	Active TSS	NH-A	brain
7	chr4:119755400-119758000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:119755400-119758200	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr4:119755400-119758200	Active TSS	HSMMtube	muscle
10	chr4:119755400-119758400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:119755600-119757800	Active TSS	GM12878-XiMat	blood
12	chr4:119755600-119757800	Active TSS	Osteobl	bone
13	chr4:119755600-119758000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:119755600-119758000	Active TSS	NHDF-Ad	bronchial
15	chr4:119755600-119758400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:119755600-119758400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:119755800-119757800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr4:119755800-119757800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:119755800-119757800	Active TSS	Fetal Muscle Leg	muscle
20	chr4:119755800-119757800	Active TSS	Fetal Stomach	stomach
21	chr4:119755800-119757800	Active TSS	K562	blood
22	chr4:119755800-119758000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:119755800-119758200	Active TSS	Colonic Mucosa	Colon
24	chr4:119755800-119758200	Active TSS	Fetal Muscle Trunk	muscle
25	chr4:119755800-119758200	Active TSS	Right Atrium	heart
26	chr4:119755800-119758200	Active TSS	Right Ventricle	heart
27	chr4:119756000-119757800	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr4:119756000-119757800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:119756000-119757800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr4:119756000-119757800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:119756000-119757800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:119756000-119757800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:119756000-119757800	Active TSS	Fetal Intestine Large	intestine
34	chr4:119756000-119757800	Active TSS	Fetal Intestine Small	intestine
35	chr4:119756000-119757800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr4:119756000-119757800	Active TSS	Rectal Smooth Muscle	rectum
37	chr4:119756000-119757800	Active TSS	HMEC	breast
38	chr4:119756000-119758000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr4:119756000-119758000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:119756000-119758000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:119756000-119758000	Active TSS	Placenta	Placenta
42	chr4:119756000-119758000	Active TSS	A549	lung
43	chr4:119756000-119758200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:119756000-119758200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr4:119756000-119758200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:119756000-119758200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:119756000-119758200	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr4:119756000-119758200	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr4:119756000-119758200	Active TSS	Fetal Kidney	kidney
50	chr4:119756000-119758400	Active TSS	HUES6 Cell Line	embryonic stem cell

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