Variant report

Variant	rs111481071
Chromosome Location	chr3:23847849-23847850
allele	C/T
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	ELF1	chr3:23847845-23848829	GM12878	blood:	n/a	chr3:23847923-23847935
2	ZBTB7A	chr3:23846976-23848886	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
3	ZBTB7A	chr3:23846979-23848956	K562	blood:	n/a	chr3:23847207-23847216
4	SMARCB1	chr3:23847167-23848809	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:23847270-23847863	GM12878	blood:	n/a	n/a
6	CTCF	chr3:23847760-23847910	GM12865	blood:	n/a	chr3:23847852-23847870
7	MAX	chr3:23847231-23847885	K562	blood:	n/a	chr3:23847810-23847820
8	EBF1	chr3:23847443-23848095	GM12878	blood:	n/a	chr3:23847919-23847929 chr3:23847918-23847929
9	CHD2	chr3:23847336-23848315	K562	blood:	n/a	n/a
10	POLR2A	chr3:23847113-23849021	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:23847740-23847890	GM12871	blood:	n/a	chr3:23847852-23847870
12	POLR2A	chr3:23847119-23847852	K562	blood:	n/a	n/a
13	POLR2A	chr3:23847230-23848839	GM12892	blood:	n/a	n/a
14	CCNT2	chr3:23847378-23848866	K562	blood:	n/a	chr3:23847925-23847934
15	POLR2A	chr3:23847284-23848865	GM19193	blood:	n/a	n/a
16	POLR2A	chr3:23847240-23848696	K562	blood:	n/a	n/a
17	EGR1	chr3:23847698-23847944	K562	blood:	n/a	chr3:23847883-23847896 chr3:23847883-23847896 chr3:23847886-23847895
18	REST	chr3:23846855-23847961	H1-neurons	neurons:	n/a	chr3:23847879-23847889
19	ZBTB7A	chr3:23846913-23848985	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
20	MXI1	chr3:23846989-23847963	IMR90	lung:	n/a	n/a
21	POLR2A	chr3:23847036-23848947	K562	blood:	n/a	n/a
22	CTCF	chr3:23847840-23847990	HMEC	breast:	n/a	chr3:23847852-23847870
23	CHD2	chr3:23847141-23848459	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr3:23847046-23849182	IMR90	lung:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
25	POLR2A	chr3:23847275-23849059	GM15510	blood:	n/a	n/a
26	ZBTB7A	chr3:23847036-23848850	K562	blood:	n/a	chr3:23847207-23847216
27	EGR1	chr3:23847685-23847982	GM12878	blood:	n/a	chr3:23847883-23847896 chr3:23847883-23847896 chr3:23847886-23847895
28	POLR2A	chr3:23847224-23847870	A549	lung:	n/a	n/a
29	SIN3A	chr3:23846868-23847867	H1-hESC	embryonic stem cell:	n/a	n/a
30	EGR1	chr3:23847666-23847962	K562	blood:	n/a	chr3:23847883-23847896 chr3:23847883-23847896 chr3:23847886-23847895
31	POLR2A	chr3:23847206-23848881	GM18951	blood:	n/a	n/a
32	MAZ	chr3:23846813-23848969	GM12878	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
33	ELF1	chr3:23847191-23847932	K562	blood:	n/a	chr3:23847473-23847486
34	MAZ	chr3:23846771-23849343	K562	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
35	MXI1	chr3:23846611-23849467	SK-N-SH	brain:	n/a	n/a
36	PAX5	chr3:23847329-23847911	GM12892	blood:	n/a	n/a
37	BCL3	chr3:23847315-23847925	GM12878	blood:	n/a	chr3:23847878-23847891
38	POLR2A	chr3:23847244-23849030	GM19099	blood:	n/a	n/a
39	CTCF	chr3:23847760-23847910	SK-N-SH_RA	brain:	n/a	chr3:23847852-23847870
40	SPI1	chr3:23847065-23847870	GM12878	blood:	n/a	n/a
41	CTCF	chr3:23847740-23847890	GM12875	blood:	n/a	chr3:23847852-23847870

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:

Variant related genes	Relation type
UBE2E1	TF binding region
ENSG00000228791	Chromatin interaction
ENSG00000182247	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000174738	Chromatin interaction
ENSG00000151090	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000233153	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	chr3:23846800-23848400	Active TSS	Brain Germinal Matrix	brain
2	chr3:23846800-23848600	Active TSS	Fetal Stomach	stomach
3	chr3:23846800-23848600	Active TSS	NH-A	brain
4	chr3:23846800-23848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:23846800-23848800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:23846800-23848800	Active TSS	Primary T cells from cord blood	blood
7	chr3:23846800-23848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:23846800-23848800	Active TSS	Adipose Nuclei	Adipose
9	chr3:23846800-23848800	Active TSS	Brain Anterior Caudate	brain
10	chr3:23846800-23848800	Active TSS	Fetal Brain Female	brain
11	chr3:23846800-23848800	Active TSS	HSMMtube	muscle
12	chr3:23846800-23848800	Active TSS	HUVEC	blood vessel
13	chr3:23846800-23849000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:23846800-23849000	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:23846800-23849000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:23846800-23849000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:23846800-23849000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:23846800-23849000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr3:23846800-23849000	Active TSS	Brain Hippocampus Middle	brain
20	chr3:23846800-23849000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:23846800-23849000	Active TSS	Colonic Mucosa	Colon
22	chr3:23846800-23849000	Active TSS	Stomach Smooth Muscle	stomach
23	chr3:23846800-23849000	Active TSS	NHLF	lung
24	chr3:23846800-23849200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:23846800-23849200	Active TSS	H9 Cell Line	embryonic stem cell
26	chr3:23846800-23849200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:23846800-23849200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr3:23846800-23849200	Active TSS	Aorta	Aorta
29	chr3:23846800-23849200	Active TSS	Brain Angular Gyrus	brain
30	chr3:23846800-23849200	Active TSS	Brain Cingulate Gyrus	brain
31	chr3:23846800-23849200	Active TSS	Colon Smooth Muscle	Colon
32	chr3:23846800-23849200	Active TSS	Fetal Muscle Trunk	muscle
33	chr3:23846800-23849200	Active TSS	Left Ventricle	heart
34	chr3:23846800-23849200	Active TSS	Psoas Muscle	Psoas
35	chr3:23846800-23849200	Active TSS	Right Ventricle	heart
36	chr3:23846800-23849400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:23846800-23849400	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr3:23846800-23849400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr3:23847000-23848600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:23847000-23848600	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr3:23847000-23848600	Active TSS	Placenta	Placenta
42	chr3:23847000-23848800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:23847000-23848800	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr3:23847000-23848800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr3:23847000-23848800	Active TSS	HSMM	muscle
46	chr3:23847000-23849000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr3:23847000-23849000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:23847000-23849000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:23847000-23849000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr3:23847000-23849000	Active TSS	iPS-20b Cell Line	embryonic stem cell

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