Variant report

Variant	rs572813280
Chromosome Location	chr4:56502428-56502429
allele	C/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	CTCF	chr4:56502380-56502530	GM12874	blood:	n/a	chr4:56502419-56502432
2	CTCF	chr4:56502360-56502510	GM12871	blood:	n/a	chr4:56502419-56502432
3	TAL1	chr4:56502255-56502575	K562	blood:	n/a	n/a
4	RCOR1	chr4:56502343-56502530	K562	blood:	n/a	n/a
5	ZNF143	chr4:56502336-56502494	K562	blood:	n/a	n/a
6	ZC3H11A	chr4:56502345-56502447	K562	blood:	n/a	n/a
7	POLR2A	chr4:56502200-56502570	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr4:56502179-56502536	H1-hESC	embryonic stem cell:	n/a	chr4:56502419-56502433 chr4:56502364-56502378 chr4:56502415-56502434
9	TEAD4	chr4:56502222-56502796	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr4:56502167-56502722	HCT-116	colon:	n/a	n/a
11	GTF2B	chr4:56502307-56502584	K562	blood:	n/a	n/a
12	CTCF	chr4:56502340-56502490	GM12865	blood:	n/a	chr4:56502419-56502432
13	TCF7L2	chr4:56502082-56502649	HCT-116	colon:	n/a	n/a
14	RAD21	chr4:56502284-56502495	HepG2	liver:	n/a	chr4:56502419-56502433 chr4:56502364-56502378 chr4:56502415-56502434
15	CTCF	chr4:56502321-56502509	Fibrobl	skin:	n/a	chr4:56502419-56502432
16	POLR2A	chr4:56501200-56503215	K562	blood:	n/a	n/a
17	MAX	chr4:56502103-56502456	H1-hESC	embryonic stem cell:	n/a	chr4:56502207-56502216
18	BACH1	chr4:56502324-56502563	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr4:56502078-56502794	ECC-1	luminal epithelium:	n/a	n/a
20	CTCF	chr4:56502383-56502464	Lung_OC	lung:	n/a	chr4:56502419-56502432
21	RAD21	chr4:56502272-56502558	SK-N-SH_RA	brain:	n/a	chr4:56502419-56502433 chr4:56502364-56502378 chr4:56502415-56502434
22	CTBP2	chr4:56501652-56502510	H1-hESC	embryonic stem cell:	n/a	n/a
23	USF1	chr4:56502267-56502627	ECC-1	luminal epithelium:	n/a	n/a
24	TBL1XR1	chr4:56502328-56502845	K562	blood:	n/a	n/a
25	HEY1	chr4:56502006-56502668	K562	blood:	n/a	chr4:56502224-56502239
26	E2F6	chr4:56502015-56502945	K562	blood:	n/a	chr4:56502103-56502110 chr4:56502099-56502111 chr4:56502102-56502111 chr4:56502103-56502110 chr4:56502103-56502110
27	JUND	chr4:56502192-56502881	K562	blood:	n/a	n/a
28	CTCF	chr4:56502321-56502518	MCF-7	breast:	n/a	chr4:56502419-56502432
29	MAX	chr4:56502188-56502930	K562	blood:	n/a	chr4:56502207-56502216
30	CHD2	chr4:56502183-56502449	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr4:56502380-56502530	HBMEC	blood vessel:	n/a	chr4:56502419-56502432
32	MYC	chr4:56502348-56502430	MCF-7	breast:	n/a	n/a
33	CTCF	chr4:56502360-56502510	SK-N-SH_RA	brain:	n/a	chr4:56502419-56502432
34	CTCF	chr4:56502340-56502490	AG04449	skin:	n/a	chr4:56502419-56502432
35	CTCF	chr4:56502116-56502538	T-47D	breast:	n/a	chr4:56502419-56502432
36	CTCF	chr4:56502320-56502470	HRPEpiC	eye:	n/a	chr4:56502419-56502432
37	FOXA1	chr4:56502346-56502590	T-47D	breast:	n/a	n/a
38	CTCF	chr4:56502400-56502550	GM12872	blood:	n/a	chr4:56502419-56502432
39	TAF1	chr4:56502209-56502724	K562	blood:	n/a	n/a
40	RAD21	chr4:56502308-56502504	GM12878	blood:	n/a	chr4:56502419-56502433 chr4:56502364-56502378 chr4:56502415-56502434
41	TAF1	chr4:56502169-56502705	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr4:56502230-56502666	Gliobla	brain:	n/a	n/a
43	TAF1	chr4:56502248-56502564	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF384	chr4:56502348-56502708	K562	blood:	n/a	n/a
45	E2F6	chr4:56502396-56502673	K562	blood:	n/a	n/a
46	YY1	chr4:56502258-56502605	K562	blood:	n/a	n/a
47	SIN3A	chr4:56501620-56502540	H1-hESC	embryonic stem cell:	n/a	chr4:56502037-56502050
48	RCOR1	chr4:56500802-56503942	K562	blood:	n/a	n/a
49	MYC	chr4:56502186-56502636	MCF-7	breast:	n/a	chr4:56502207-56502216
50	CTCF	chr4:56502380-56502530	GM12875	blood:	n/a	chr4:56502419-56502432

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:56502392-56502442	SK-N-SH	brain:	n/a
2	chr4:56502392-56502442	HepG2	liver:	n/a
3	chr4:56502392-56502442	RPTEC	kidney:	n/a
4	chr4:56502392-56502442	BJ	skin:	n/a
5	chr4:56502392-56502442	HRPEpiC	eye:	n/a
6	chr4:56502392-56502442	HNPCEpiC	eye:	n/a
7	chr4:56502392-56502442	HCF	heart:	n/a
8	chr4:56502392-56502442	HAEpiC	amniotic membrane:	n/a
9	chr4:56502392-56502442	AG09309	skin:	n/a
10	chr4:56502392-56502442	NT2-D1	testis:	n/a
11	chr4:56502392-56502442	Jurkat	blood:	n/a
12	chr4:56502392-56502442	HMEC	breast:	n/a
13	chr4:56502392-56502442	HRCEpiC	kidney:	n/a
14	chr4:56502392-56502442	GM12891	blood:	n/a
15	chr4:56502392-56502442	HPAEpiC	pulmonary alveolar:	n/a
16	chr4:56502392-56502442	U87	brain:	n/a
17	chr4:56502392-56502442	ECC-1	luminal epithelium:	n/a
18	chr4:56502392-56502442	HCM	heart:	n/a
19	chr4:56502392-56502442	LNCaP	prostate:	n/a
20	chr4:56502392-56502442	Caco-2	colon:	n/a
21	chr4:56502392-56502442	NH-A	brain:	n/a
22	chr4:56502392-56502442	K562	blood:	n/a
23	chr4:56502392-56502442	SK-N-MC	brain:	n/a
24	chr4:56502392-56502442	H1-hESC	embryonic stem cell:	embryo
25	chr4:56502392-56502442	SKMC	muscle:	n/a
26	chr4:56502392-56502442	SAEC	small airway:	n/a
27	chr4:56502392-56502442	MCF-7	breast:	n/a
28	chr4:56502392-56502442	HEEpiC	esophagus:	n/a
29	chr4:56502392-56502442	BE2_C	brain:	n/a
30	chr4:56502392-56502442	Hela-S3	cervix:	n/a
31	chr4:56502392-56502442	A549	lung:	n/a
32	chr4:56502392-56502442	Hepatocyte	liver:	n/a
33	chr4:56502392-56502442	AG04450	lung:	fetal
34	chr4:56502392-56502442	ProgFib	skin:	n/a
35	chr4:56502392-56502442	T-47D	breast:	n/a
36	chr4:56502392-56502442	MCF10A-Er-Src	breast:	n/a
37	chr4:56502392-56502442	CMK	blood:	n/a
38	chr4:56502392-56502442	GM06990	blood:	n/a
39	chr4:56502392-56502442	HUVEC	blood vessel:	n/a
40	chr4:56502392-56502442	NHBE	bronchial:	n/a
41	chr4:56502392-56502442	HCT-116	colon:	n/a
42	chr4:56502392-56502442	GM19239	blood:	n/a
43	chr4:56502392-56502442	AG04449	skin:	fetal
44	chr4:56502392-56502442	ovcar-3	ovarian:	n/a
45	chr4:56502392-56502442	SK-N-SH_RA	brain:	n/a
46	chr4:56502392-56502442	GM12892	blood:	n/a
47	chr4:56502392-56502442	HEK293	kidney:	embryo
48	chr4:56502392-56502442	HL-60	blood:	n/a
49	chr4:56502392-56502442	NB4	blood:	n/a
50	chr4:56502392-56502442	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56410839..56413778-chr4:56501227..56505067,4	K562	blood:
2	chr4:56408119..56414507-chr4:56501105..56505595,8	K562	blood:

Variant related genes	Relation type
NMU	TF binding region
NMU	CpG island
ENSG00000272969	Chromatin interaction
ENSG00000134852	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv932636	chr4:56438618-56667329	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879021	chr4:56482750-56648713	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3393088	chr4:56484073-56503988	Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3395811	chr4:56486113-56514675	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3406771	chr4:56501220-56503968	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56500800-56502600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr4:56501000-56503000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:56501200-56503200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr4:56501200-56503200	Enhancers	Spleen	Spleen
5	chr4:56501400-56502600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:56501400-56502800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:56501400-56503000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:56501400-56503000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:56501400-56503000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
12	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	Thymus	Thymus
13	chr4:56501400-56503000	Flanking Bivalent TSS/Enh	NH-A	brain
14	chr4:56501400-56503200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:56501400-56503200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr4:56501400-56503400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr4:56501400-56503400	Bivalent/Poised TSS	Fetal Kidney	kidney
18	chr4:56501400-56503600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr4:56501600-56502600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr4:56501600-56502600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:56501600-56502600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
22	chr4:56501600-56502600	Bivalent Enhancer	Fetal Brain Male	brain
23	chr4:56501600-56502600	Active TSS	K562	blood
24	chr4:56501600-56502800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:56501600-56502800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr4:56501600-56502800	Bivalent/Poised TSS	Aorta	Aorta
27	chr4:56501600-56503200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:56501600-56503200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr4:56501600-56503400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr4:56501600-56503600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
31	chr4:56501800-56502600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
32	chr4:56501800-56502600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:56501800-56502600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:56501800-56502600	Active TSS	Brain Germinal Matrix	brain
35	chr4:56501800-56502600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
36	chr4:56501800-56502600	Flanking Active TSS	Right Ventricle	heart
37	chr4:56501800-56503000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:56501800-56503000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:56501800-56503000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:56501800-56503000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:56501800-56503000	Bivalent Enhancer	Placenta	Placenta
42	chr4:56501800-56503000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
43	chr4:56501800-56503200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr4:56501800-56503200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:56501800-56503400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr4:56501800-56503800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr4:56502000-56502600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr4:56502000-56502600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:56502000-56502600	Active TSS	NHEK	skin
50	chr4:56502000-56502800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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