Variant report

Variant	rs533254093
Chromosome Location	chr4:7044470-7044471
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	SIN3A	chr4:7043857-7045070	H1-hESC	embryonic stem cell:	n/a	n/a
2	HMGN3	chr4:7044111-7045963	K562	blood:	n/a	n/a
3	HDAC2	chr4:7044430-7044862	HepG2	liver:	n/a	n/a
4	MAX	chr4:7044091-7045077	NB4	blood:	n/a	n/a
5	REST	chr4:7044455-7044666	A549	lung:	n/a	n/a
6	POLR2A	chr4:7044324-7045307	HepG2	liver:	n/a	n/a
7	RCOR1	chr4:7044035-7045383	K562	blood:	n/a	n/a
8	POLR2A	chr4:7044197-7045576	IMR90	lung:	n/a	n/a
9	YY1	chr4:7044394-7045861	HepG2	liver:	n/a	chr4:7044890-7044899 chr4:7045296-7045316 chr4:7044888-7044902
10	ZNF263	chr4:7043963-7044930	HEK293-T-REx	kidney:	n/a	n/a
11	HDAC2	chr4:7044423-7044951	MCF-7	breast:	n/a	n/a
12	SIN3AK20	chr4:7044402-7044825	HepG2	liver:	n/a	n/a
13	CREB1	chr4:7044100-7046023	HepG2	liver:	n/a	n/a
14	CCNT2	chr4:7044207-7046106	K562	blood:	n/a	n/a
15	POLR2A	chr4:7044459-7044820	ECC-1	luminal epithelium:	n/a	n/a
16	EGR1	chr4:7044073-7044490	K562	blood:	n/a	chr4:7044283-7044297
17	NFYB	chr4:7044156-7045035	K562	blood:	n/a	chr4:7044752-7044762 chr4:7044806-7044821 chr4:7044753-7044765 chr4:7044749-7044764 chr4:7044809-7044824 chr4:7044749-7044764 chr4:7044809-7044823
18	MAZ	chr4:7044221-7045888	GM12878	blood:	n/a	n/a
19	MAX	chr4:7044254-7045151	A549	lung:	n/a	n/a
20	MAX	chr4:7044414-7045152	SK-N-SH	brain:	n/a	n/a
21	TAF1	chr4:7044171-7045139	H1-neurons	neurons:	n/a	n/a
22	TAF1	chr4:7044346-7045754	ECC-1	luminal epithelium:	n/a	n/a
23	E2F6	chr4:7044426-7045124	H1-hESC	embryonic stem cell:	n/a	chr4:7045104-7045113
24	EGR1	chr4:7044067-7044520	K562	blood:	n/a	chr4:7044283-7044297
25	MYC	chr4:7044152-7045076	K562	blood:	n/a	n/a
26	RCOR1	chr4:7044017-7044913	K562	blood:	n/a	n/a
27	SIN3AK20	chr4:7044339-7045022	MCF-7	breast:	n/a	n/a
28	NFYB	chr4:7044339-7045139	GM12878	blood:	n/a	chr4:7044752-7044762 chr4:7044806-7044821 chr4:7044753-7044765 chr4:7044749-7044764 chr4:7044809-7044824 chr4:7044749-7044764 chr4:7044809-7044823
29	ZMIZ1	chr4:7044451-7044907	K562	blood:	n/a	n/a
30	SIN3AK20	chr4:7044079-7045149	PANC-1	pancreas:	n/a	n/a
31	SIN3AK20	chr4:7044271-7044909	K562	blood:	n/a	n/a
32	JUND	chr4:7044155-7045063	K562	blood:	n/a	chr4:7044813-7044822 chr4:7044892-7044906
33	YY1	chr4:7044441-7045195	K562	blood:	n/a	chr4:7044890-7044899 chr4:7044888-7044902
34	MAX	chr4:7044384-7045062	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr4:7044257-7045044	HepG2	liver:	n/a	n/a
36	MAZ	chr4:7044034-7045862	K562	blood:	n/a	n/a
37	RFX5	chr4:7043974-7045278	SK-N-SH	brain:	n/a	chr4:7044812-7044821
38	YY1	chr4:7044370-7044821	SK-N-SH	brain:	n/a	n/a
39	RAD21	chr4:7044077-7045191	IMR90	lung:	n/a	n/a
40	TAF1	chr4:7044469-7044793	SK-N-SH	brain:	n/a	n/a
41	SIN3AK20	chr4:7044316-7045050	SK-N-SH	brain:	n/a	n/a
42	ZNF143	chr4:7044436-7045189	K562	blood:	n/a	chr4:7044922-7044932
43	POLR2A	chr4:7044222-7046412	GM18505	blood:	n/a	n/a
44	POLR2A	chr4:7044030-7045885	MCF10A-Er-Src	breast:	n/a	n/a
45	MAZ	chr4:7044428-7045072	HepG2	liver:	n/a	n/a
46	TCF12	chr4:7044323-7045048	ECC-1	luminal epithelium:	n/a	n/a
47	SPI1	chr4:7044027-7044516	HL-60	blood:	n/a	n/a
48	TAF1	chr4:7044444-7045128	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr4:7044421-7045054	A549	lung:	n/a	n/a
50	NRF1	chr4:7044382-7045401	SK-N-SH	brain:	n/a	chr4:7044989-7045000 chr4:7045103-7045117 chr4:7045103-7045114 chr4:7045028-7045039

No.	Distal block	Cell Line	Cell type
1	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
2	chr4:6909981..6913772-chr4:7044379..7047071,5	MCF-7	breast:
3	chr4:7000132..7002859-chr4:7044384..7046741,2	MCF-7	breast:
4	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
5	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
6	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
7	chr4:6674690..6677394-chr4:7044280..7046366,2	K562	blood:
8	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
9	chr4:6711584..6713629-chr4:7043225..7044994,2	MCF-7	breast:
10	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:
11	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:

Variant related genes	Relation type
TADA2B	TF binding region
ENSG00000251580	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000245468	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000178988	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000170846	Chromatin interaction
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv593548	chr4:7043099-7045945	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	esv3344080	chr4:7043676-7046224	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv14348	chr4:7043979-7045994	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	esv1801315	chr4:7044007-7052777	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv1835149	chr4:7044007-7052777	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv593549	chr4:7044220-7045657	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
17	nsv593550	chr4:7044220-7045945	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
18	nsv593551	chr4:7044324-7045498	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
19	nsv593552	chr4:7044324-7045657	Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
20	nsv593553	chr4:7044324-7045760	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
21	nsv593554	chr4:7044447-7045657	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
22	nsv593555	chr4:7044447-7045760	Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
23	nsv593556	chr4:7044447-7048842	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:7043200-7044600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr4:7043200-7044600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr4:7043400-7044600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr4:7043400-7046600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:7043600-7044600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr4:7043600-7044600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:7043600-7044600	Flanking Active TSS	Liver	Liver
8	chr4:7043600-7044600	Flanking Active TSS	HMEC	breast
9	chr4:7043600-7044800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr4:7043600-7044800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:7043600-7046600	Active TSS	Fetal Kidney	kidney
12	chr4:7043600-7046600	Active TSS	A549	lung
13	chr4:7043800-7044600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:7043800-7044800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr4:7043800-7044800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr4:7043800-7044800	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:7043800-7044800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:7043800-7045000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:7043800-7045600	Weak transcription	Fetal Heart	heart
20	chr4:7043800-7045800	Active TSS	Primary T cells from cord blood	blood
21	chr4:7043800-7046200	Active TSS	Hela-S3	cervix
22	chr4:7043800-7046400	Active TSS	Aorta	Aorta
23	chr4:7043800-7046400	Active TSS	Colon Smooth Muscle	Colon
24	chr4:7043800-7046400	Active TSS	Small Intestine	intestine
25	chr4:7043800-7046400	Active TSS	NHDF-Ad	bronchial
26	chr4:7043800-7046600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:7044000-7044600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:7044000-7044800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr4:7044000-7044800	Flanking Active TSS	Dnd41	blood
30	chr4:7044000-7045000	Bivalent/Poised TSS	Thymus	Thymus
31	chr4:7044000-7045600	Active TSS	Placenta Amnion	Placenta Amnion
32	chr4:7044000-7046000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:7044000-7046000	Active TSS	Brain Anterior Caudate	brain
34	chr4:7044000-7046000	Active TSS	Lung	lung
35	chr4:7044000-7046000	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr4:7044000-7046200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:7044000-7046200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:7044000-7046200	Active TSS	Fetal Intestine Small	intestine
39	chr4:7044000-7046200	Active TSS	Right Ventricle	heart
40	chr4:7044000-7046200	Active TSS	HSMM	muscle
41	chr4:7044000-7046400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:7044000-7046400	Active TSS	Brain Angular Gyrus	brain
43	chr4:7044000-7046400	Active TSS	Left Ventricle	heart
44	chr4:7044000-7046400	Active TSS	Rectal Smooth Muscle	rectum
45	chr4:7044000-7046400	Active TSS	Right Atrium	heart
46	chr4:7044000-7046600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:7044000-7046600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:7044000-7046600	Active TSS	Fetal Intestine Large	intestine
49	chr4:7044000-7046600	Active TSS	Gastric	stomach
50	chr4:7044200-7044600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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