Variant report

Variant	rs547690251
Chromosome Location	chr3:23847495-23847496
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:329)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:23847321-23847635	HCT-116	colon:	n/a	n/a
2	E2F6	chr3:23847311-23847746	K562	blood:	n/a	n/a
3	YY1	chr3:23847260-23847643	SK-N-SH	brain:	n/a	chr3:23847319-23847330
4	POLR2A	chr3:23847316-23847634	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF1	chr3:23847323-23847654	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr3:23847338-23847602	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:23847303-23847689	HUVEC	blood vessel:	n/a	n/a
8	MYC	chr3:23847412-23847612	MCF10A-Er-Src	breast:	n/a	n/a
9	SPI1	chr3:23847358-23847613	HL-60	blood:	n/a	n/a
10	ELF1	chr3:23847338-23847805	GM12878	blood:	n/a	chr3:23847473-23847486
11	ELF1	chr3:23847322-23847657	K562	blood:	n/a	chr3:23847473-23847486
12	EGR1	chr3:23847099-23847581	K562	blood:	n/a	chr3:23847207-23847220
13	ZBTB7A	chr3:23846976-23848886	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
14	CTCF	chr3:23847420-23847570	SK-N-SH_RA	brain:	n/a	n/a
15	POLR2A	chr3:23847206-23847808	Gliobla	brain:	n/a	n/a
16	POLR2A	chr3:23847228-23847670	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr3:23847252-23847756	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:23847190-23847733	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr3:23847200-23847692	A549	lung:	n/a	n/a
20	POLR2A	chr3:23847321-23847585	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr3:23847362-23847593	K562	blood:	n/a	n/a
22	CEBPB	chr3:23847344-23847587	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr3:23847371-23847569	GM12878	blood:	n/a	n/a
24	ELK1	chr3:23847402-23847602	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr3:23847356-23847692	MCF10A-Er-Src	breast:	n/a	n/a
26	ZBTB7A	chr3:23846979-23848956	K562	blood:	n/a	chr3:23847207-23847216
27	SMARCB1	chr3:23847167-23848809	Hela-S3	cervix:	n/a	n/a
28	MAX	chr3:23847177-23847712	A549	lung:	n/a	n/a
29	BHLHE40	chr3:23846628-23847665	K562	blood:	n/a	chr3:23846798-23846807
30	RAD21	chr3:23847424-23847581	K562	blood:	n/a	n/a
31	BHLHE40	chr3:23847053-23847799	GM12878	blood:	n/a	n/a
32	YY1	chr3:23847228-23847635	ECC-1	luminal epithelium:	n/a	chr3:23847319-23847330
33	HDAC2	chr3:23847338-23847610	HepG2	liver:	n/a	n/a
34	YY1	chr3:23847337-23847594	GM12891	blood:	n/a	n/a
35	MAFK	chr3:23847301-23847607	IMR90	lung:	n/a	n/a
36	POLR2A	chr3:23847270-23847863	GM12878	blood:	n/a	n/a
37	POLR2A	chr3:23847329-23847700	GM12878	blood:	n/a	n/a
38	MXI1	chr3:23847390-23847590	Hela-S3	cervix:	n/a	n/a
39	MAX	chr3:23847370-23847570	HepG2	liver:	n/a	n/a
40	CTCF	chr3:23846886-23847558	K562	blood:	n/a	chr3:23847105-23847113
41	BCL11A	chr3:23847337-23847629	GM12878	blood:	n/a	n/a
42	EGR1	chr3:23847267-23847643	GM12878	blood:	n/a	n/a
43	PAX5	chr3:23847329-23847634	GM12878	blood:	n/a	n/a
44	HEY1	chr3:23847312-23847699	K562	blood:	n/a	n/a
45	MAX	chr3:23847231-23847885	K562	blood:	n/a	chr3:23847810-23847820
46	ELF1	chr3:23847258-23847596	A549	lung:	n/a	chr3:23847473-23847486
47	RUNX3	chr3:23847241-23847699	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:23847160-23847783	SK-N-MC	brain:	n/a	n/a
49	ELF1	chr3:23847354-23847603	HepG2	liver:	n/a	chr3:23847473-23847486
50	MYC	chr3:23847385-23847551	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23847480-23847530	AG09309	skin:	n/a
2	chr3:23847494-23847544	GM12891	blood:	n/a
3	chr3:23847480-23847530	ECC-1	luminal epithelium:	n/a
4	chr3:23847494-23847544	HRPEpiC	eye:	n/a
5	chr3:23847494-23847544	ProgFib	skin:	n/a
6	chr3:23847480-23847530	NH-A	brain:	n/a
7	chr3:23847480-23847530	LNCaP	prostate:	n/a
8	chr3:23847480-23847530	PrEC	prostate:	n/a
9	chr3:23847494-23847544	AG10803	skin:	n/a
10	chr3:23847494-23847544	AG09319	gingival:	n/a
11	chr3:23847494-23847544	PrEC	prostate:	n/a
12	chr3:23847480-23847530	BE2_C	brain:	n/a
13	chr3:23847494-23847544	AoSMC	blood vessel:	n/a
14	chr3:23847494-23847544	PANC-1	pancreas:	n/a
15	chr3:23847480-23847530	HRCEpiC	kidney:	n/a
16	chr3:23847480-23847530	NT2-D1	testis:	n/a
17	chr3:23847480-23847530	AG09319	gingival:	n/a
18	chr3:23847494-23847544	K562	blood:	n/a
19	chr3:23847480-23847530	GM12878	blood:	n/a
20	chr3:23847480-23847530	T-47D	breast:	n/a
21	chr3:23847480-23847530	SK-N-MC	brain:	n/a
22	chr3:23847494-23847544	U87	brain:	n/a
23	chr3:23847494-23847544	HEEpiC	esophagus:	n/a
24	chr3:23847480-23847530	PANC-1	pancreas:	n/a
25	chr3:23847494-23847544	MCF10A-Er-Src	breast:	n/a
26	chr3:23847480-23847530	AG04450	lung:	fetal
27	chr3:23847494-23847544	AG04450	lung:	fetal
28	chr3:23847494-23847544	SAEC	small airway:	n/a
29	chr3:23847494-23847544	LNCaP	prostate:	n/a
30	chr3:23847494-23847544	GM12878	blood:	n/a
31	chr3:23847480-23847530	NHBE	bronchial:	n/a
32	chr3:23847494-23847544	NT2-D1	testis:	n/a
33	chr3:23847480-23847530	SKMC	muscle:	n/a
34	chr3:23847480-23847530	AG04449	skin:	fetal
35	chr3:23847494-23847544	SK-N-SH	brain:	n/a
36	chr3:23847480-23847530	K562	blood:	n/a
37	chr3:23847480-23847530	PFSK-1	brain:	n/a
38	chr3:23847480-23847530	NHDF-neo	bronchial:	n/a
39	chr3:23847480-23847530	Hela-S3	cervix:	n/a
40	chr3:23847480-23847530	HRPEpiC	eye:	n/a
41	chr3:23847480-23847530	HUVEC	blood vessel:	n/a
42	chr3:23847494-23847544	GM19239	blood:	n/a
43	chr3:23847480-23847530	NB4	blood:	n/a
44	chr3:23847480-23847530	HEEpiC	esophagus:	n/a
45	chr3:23847494-23847544	CMK	blood:	n/a
46	chr3:23847480-23847530	HCM	heart:	n/a
47	chr3:23847494-23847544	HL-60	blood:	n/a
48	chr3:23847480-23847530	HPAEpiC	pulmonary alveolar:	n/a
49	chr3:23847494-23847544	ovcar-3	ovarian:	n/a
50	chr3:23847494-23847544	SK-N-MC	brain:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:23846193..23848940-chr3:24535065..24537255,2	K562	blood:
2	chr3:23846380..23850116-chr3:23956700..23960461,6	MCF-7	breast:
3	chr3:23243031..23244851-chr3:23845499..23848237,2	MCF-7	breast:
4	chr3:23846531..23848270-chr3:23987055..23988984,2	MCF-7	breast:
5	chr3:23845112..23848622-chr3:23958029..23961906,4	K562	blood:
6	chr3:23845393..23848355-chr3:23958587..23960710,4	K562	blood:

No data

Variant related genes	Relation type
UBE2E1	TF binding region
UBE2E1	CpG island
ENSG00000174748	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000233153	Chromatin interaction
ENSG00000182247	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000151090	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	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834637	chr3:23703928-23886144	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3378886	chr3:23846373-23849821	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	9 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	chr3:23846200-23847600	Active TSS	Fetal Brain Male	brain
2	chr3:23846600-23847600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr3:23846800-23847800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:23846800-23848400	Active TSS	Brain Germinal Matrix	brain
5	chr3:23846800-23848600	Active TSS	Fetal Stomach	stomach
6	chr3:23846800-23848600	Active TSS	NH-A	brain
7	chr3:23846800-23848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:23846800-23848800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:23846800-23848800	Active TSS	Primary T cells from cord blood	blood
10	chr3:23846800-23848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:23846800-23848800	Active TSS	Adipose Nuclei	Adipose
12	chr3:23846800-23848800	Active TSS	Brain Anterior Caudate	brain
13	chr3:23846800-23848800	Active TSS	Fetal Brain Female	brain
14	chr3:23846800-23848800	Active TSS	HSMMtube	muscle
15	chr3:23846800-23848800	Active TSS	HUVEC	blood vessel
16	chr3:23846800-23849000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:23846800-23849000	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr3:23846800-23849000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:23846800-23849000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:23846800-23849000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:23846800-23849000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr3:23846800-23849000	Active TSS	Brain Hippocampus Middle	brain
23	chr3:23846800-23849000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:23846800-23849000	Active TSS	Colonic Mucosa	Colon
25	chr3:23846800-23849000	Active TSS	Stomach Smooth Muscle	stomach
26	chr3:23846800-23849000	Active TSS	NHLF	lung
27	chr3:23846800-23849200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:23846800-23849200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr3:23846800-23849200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:23846800-23849200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr3:23846800-23849200	Active TSS	Aorta	Aorta
32	chr3:23846800-23849200	Active TSS	Brain Angular Gyrus	brain
33	chr3:23846800-23849200	Active TSS	Brain Cingulate Gyrus	brain
34	chr3:23846800-23849200	Active TSS	Colon Smooth Muscle	Colon
35	chr3:23846800-23849200	Active TSS	Fetal Muscle Trunk	muscle
36	chr3:23846800-23849200	Active TSS	Left Ventricle	heart
37	chr3:23846800-23849200	Active TSS	Psoas Muscle	Psoas
38	chr3:23846800-23849200	Active TSS	Right Ventricle	heart
39	chr3:23846800-23849400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:23846800-23849400	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr3:23846800-23849400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr3:23847000-23847800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr3:23847000-23848600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:23847000-23848600	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr3:23847000-23848600	Active TSS	Placenta	Placenta
46	chr3:23847000-23848800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr3:23847000-23848800	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:23847000-23848800	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr3:23847000-23848800	Active TSS	HSMM	muscle
50	chr3:23847000-23849000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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