Variant report

Variant	rs374912841
Chromosome Location	chr3:23847300-23847301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:177)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:177 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:23847260-23847643	SK-N-SH	brain:	n/a	chr3:23847319-23847330
2	EGR1	chr3:23847099-23847581	K562	blood:	n/a	chr3:23847207-23847220
3	ZBTB7A	chr3:23846976-23848886	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
4	POLR2A	chr3:23847206-23847808	Gliobla	brain:	n/a	n/a
5	POLR2A	chr3:23847228-23847670	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr3:23847252-23847756	HepG2	liver:	n/a	n/a
7	POLR2A	chr3:23847190-23847733	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr3:23847200-23847692	A549	lung:	n/a	n/a
9	ZBTB7A	chr3:23846979-23848956	K562	blood:	n/a	chr3:23847207-23847216
10	SMARCB1	chr3:23847167-23848809	Hela-S3	cervix:	n/a	n/a
11	MAX	chr3:23847177-23847712	A549	lung:	n/a	n/a
12	BHLHE40	chr3:23846628-23847665	K562	blood:	n/a	chr3:23846798-23846807
13	BHLHE40	chr3:23847053-23847799	GM12878	blood:	n/a	n/a
14	YY1	chr3:23847228-23847635	ECC-1	luminal epithelium:	n/a	chr3:23847319-23847330
15	POLR2A	chr3:23847270-23847863	GM12878	blood:	n/a	n/a
16	CTCF	chr3:23846886-23847558	K562	blood:	n/a	chr3:23847105-23847113
17	EGR1	chr3:23847267-23847643	GM12878	blood:	n/a	n/a
18	MAX	chr3:23847231-23847885	K562	blood:	n/a	chr3:23847810-23847820
19	ELF1	chr3:23847258-23847596	A549	lung:	n/a	chr3:23847473-23847486
20	RUNX3	chr3:23847241-23847699	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:23847160-23847783	SK-N-MC	brain:	n/a	n/a
22	CTCF	chr3:23847100-23847390	GM12867	blood:	n/a	chr3:23847105-23847113
23	POLR2A	chr3:23847260-23847755	GM12878	blood:	n/a	n/a
24	HEY1	chr3:23847278-23847728	HepG2	liver:	n/a	n/a
25	CTCF	chr3:23847160-23847310	AG04450	lung:	n/a	n/a
26	CHD2	chr3:23847062-23847796	GM12878	blood:	n/a	n/a
27	MYC	chr3:23847067-23847705	K562	blood:	n/a	n/a
28	POLR2A	chr3:23847295-23847612	PFSK-1	brain:	n/a	n/a
29	POLR2A	chr3:23847152-23847687	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr3:23847113-23849021	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr3:23846989-23847649	H1-hESC	embryonic stem cell:	n/a	n/a
32	GABPA	chr3:23847239-23847698	MCF-7	breast:	n/a	n/a
33	POLR2A	chr3:23847119-23847852	K562	blood:	n/a	n/a
34	BCLAF1	chr3:23847184-23847768	GM12878	blood:	n/a	n/a
35	EGR1	chr3:23847231-23847573	MCF-7	breast:	n/a	n/a
36	MAX	chr3:23847275-23847630	K562	blood:	n/a	n/a
37	POLR2A	chr3:23847252-23847616	SK-N-SH	brain:	n/a	n/a
38	MYC	chr3:23847199-23847697	MCF-7	breast:	n/a	n/a
39	REST	chr3:23847291-23847688	HL-60	blood:	n/a	n/a
40	CREB1	chr3:23847162-23847775	GM12878	blood:	n/a	n/a
41	YY1	chr3:23847256-23847650	SK-N-SH_RA	brain:	n/a	chr3:23847319-23847330
42	ELF1	chr3:23847182-23847664	MCF-7	breast:	n/a	chr3:23847473-23847486
43	CTCF	chr3:23847200-23847350	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr3:23847160-23847310	GM12864	blood:	n/a	n/a
45	POU2F2	chr3:23847221-23847593	GM12891	blood:	n/a	chr3:23847238-23847250
46	MTA3	chr3:23846841-23847646	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:23847264-23847756	IMR90	lung:	n/a	n/a
48	POLR2A	chr3:23847188-23847811	GM12892	blood:	n/a	n/a
49	POLR2A	chr3:23847171-23847780	GM12878	blood:	n/a	n/a
50	POLR2A	chr3:23847229-23847694	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:23847297-23847347	HMEC	breast:	n/a
2	chr3:23847297-23847347	NT2-D1	testis:	n/a
3	chr3:23847297-23847347	Jurkat	blood:	n/a
4	chr3:23847295-23847345	AG10803	skin:	n/a
5	chr3:23847295-23847345	HIPEpiC	eye:	n/a
6	chr3:23847297-23847347	ECC-1	luminal epithelium:	n/a
7	chr3:23847297-23847347	HEEpiC	esophagus:	n/a
8	chr3:23847297-23847347	AG04450	lung:	fetal
9	chr3:23847297-23847347	HUVEC	blood vessel:	n/a
10	chr3:23847295-23847345	GM12891	blood:	n/a
11	chr3:23847295-23847345	HEEpiC	esophagus:	n/a
12	chr3:23847295-23847345	NT2-D1	testis:	n/a
13	chr3:23847295-23847345	HRPEpiC	eye:	n/a
14	chr3:23847295-23847345	PFSK-1	brain:	n/a
15	chr3:23847295-23847345	GM12878	blood:	n/a
16	chr3:23847297-23847347	NB4	blood:	n/a
17	chr3:23847297-23847347	HRCEpiC	kidney:	n/a
18	chr3:23847297-23847347	Hela-S3	cervix:	n/a
19	chr3:23847297-23847347	SK-N-SH	brain:	n/a
20	chr3:23847295-23847345	AG04449	skin:	fetal
21	chr3:23847297-23847347	ovcar-3	ovarian:	n/a
22	chr3:23847297-23847347	MCF-7	breast:	n/a
23	chr3:23847295-23847345	HL-60	blood:	n/a
24	chr3:23847295-23847345	LNCaP	prostate:	n/a
25	chr3:23847297-23847347	T-47D	breast:	n/a
26	chr3:23847295-23847345	ProgFib	skin:	n/a
27	chr3:23847297-23847347	NH-A	brain:	n/a
28	chr3:23847295-23847345	NH-A	brain:	n/a
29	chr3:23847295-23847345	ovcar-3	ovarian:	n/a
30	chr3:23847295-23847345	HCM	heart:	n/a
31	chr3:23847295-23847345	CMK	blood:	n/a
32	chr3:23847295-23847345	SK-N-SH_RA	brain:	n/a
33	chr3:23847297-23847347	BE2_C	brain:	n/a
34	chr3:23847297-23847347	HCM	heart:	n/a
35	chr3:23847297-23847347	HIPEpiC	eye:	n/a
36	chr3:23847297-23847347	HRPEpiC	eye:	n/a
37	chr3:23847297-23847347	HEK293	kidney:	embryo
38	chr3:23847295-23847345	HPAEpiC	pulmonary alveolar:	n/a
39	chr3:23847297-23847347	AoSMC	blood vessel:	n/a
40	chr3:23847295-23847345	GM12892	blood:	n/a
41	chr3:23847295-23847345	A549	lung:	n/a
42	chr3:23847297-23847347	SK-N-MC	brain:	n/a
43	chr3:23847297-23847347	SK-N-SH_RA	brain:	n/a
44	chr3:23847295-23847345	PANC-1	pancreas:	n/a
45	chr3:23847295-23847345	HNPCEpiC	eye:	n/a
46	chr3:23847297-23847347	HRE	kidney:	n/a
47	chr3:23847297-23847347	GM06990	blood:	n/a
48	chr3:23847297-23847347	A549	lung:	n/a
49	chr3:23847295-23847345	HCPEpiC	choroid plexus:	n/a
50	chr3:23847295-23847345	Hela-S3	cervix:	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
ENSG00000197885	Chromatin interaction
ENSG00000233153	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000151090	Chromatin interaction
ENSG00000182247	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:124 , 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	chr3:23846800-23847400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr3:23846800-23847400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:23846800-23847800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:23846800-23848400	Active TSS	Brain Germinal Matrix	brain
7	chr3:23846800-23848600	Active TSS	Fetal Stomach	stomach
8	chr3:23846800-23848600	Active TSS	NH-A	brain
9	chr3:23846800-23848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:23846800-23848800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:23846800-23848800	Active TSS	Primary T cells from cord blood	blood
12	chr3:23846800-23848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:23846800-23848800	Active TSS	Adipose Nuclei	Adipose
14	chr3:23846800-23848800	Active TSS	Brain Anterior Caudate	brain
15	chr3:23846800-23848800	Active TSS	Fetal Brain Female	brain
16	chr3:23846800-23848800	Active TSS	HSMMtube	muscle
17	chr3:23846800-23848800	Active TSS	HUVEC	blood vessel
18	chr3:23846800-23849000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:23846800-23849000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr3:23846800-23849000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr3:23846800-23849000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:23846800-23849000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:23846800-23849000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr3:23846800-23849000	Active TSS	Brain Hippocampus Middle	brain
25	chr3:23846800-23849000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:23846800-23849000	Active TSS	Colonic Mucosa	Colon
27	chr3:23846800-23849000	Active TSS	Stomach Smooth Muscle	stomach
28	chr3:23846800-23849000	Active TSS	NHLF	lung
29	chr3:23846800-23849200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:23846800-23849200	Active TSS	H9 Cell Line	embryonic stem cell
31	chr3:23846800-23849200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:23846800-23849200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr3:23846800-23849200	Active TSS	Aorta	Aorta
34	chr3:23846800-23849200	Active TSS	Brain Angular Gyrus	brain
35	chr3:23846800-23849200	Active TSS	Brain Cingulate Gyrus	brain
36	chr3:23846800-23849200	Active TSS	Colon Smooth Muscle	Colon
37	chr3:23846800-23849200	Active TSS	Fetal Muscle Trunk	muscle
38	chr3:23846800-23849200	Active TSS	Left Ventricle	heart
39	chr3:23846800-23849200	Active TSS	Psoas Muscle	Psoas
40	chr3:23846800-23849200	Active TSS	Right Ventricle	heart
41	chr3:23846800-23849400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:23846800-23849400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:23846800-23849400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr3:23847000-23847400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr3:23847000-23847400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:23847000-23847400	Flanking Active TSS	Dnd41	blood
47	chr3:23847000-23847800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr3:23847000-23848600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:23847000-23848600	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr3:23847000-23848600	Active TSS	Placenta	Placenta

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