Variant report

Variant	rs374356146
Chromosome Location	chr3:23847081-23847082
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	ZBTB7A	chr3:23846976-23848886	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
2	ZBTB7A	chr3:23846979-23848956	K562	blood:	n/a	chr3:23847207-23847216
3	BHLHE40	chr3:23846628-23847665	K562	blood:	n/a	chr3:23846798-23846807
4	BHLHE40	chr3:23847053-23847799	GM12878	blood:	n/a	n/a
5	CTCF	chr3:23846886-23847558	K562	blood:	n/a	chr3:23847105-23847113
6	CHD2	chr3:23847062-23847796	GM12878	blood:	n/a	n/a
7	MYC	chr3:23847067-23847705	K562	blood:	n/a	n/a
8	CTCF	chr3:23847020-23847170	GM06990	blood:	n/a	chr3:23847105-23847113
9	MAX	chr3:23846989-23847649	H1-hESC	embryonic stem cell:	n/a	n/a
10	IRF1	chr3:23847036-23847182	K562	blood:	n/a	n/a
11	MTA3	chr3:23846841-23847646	GM12878	blood:	n/a	n/a
12	TBP	chr3:23846849-23847693	K562	blood:	n/a	n/a
13	CTCF	chr3:23846940-23847090	A549	lung:	n/a	n/a
14	MAX	chr3:23846867-23847762	A549	lung:	n/a	n/a
15	ELF1	chr3:23847066-23847797	GM12878	blood:	n/a	chr3:23847473-23847486
16	REST	chr3:23846855-23847961	H1-neurons	neurons:	n/a	chr3:23847879-23847889
17	RAD21	chr3:23846902-23847297	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZBTB7A	chr3:23846913-23848985	ECC-1	luminal epithelium:	n/a	chr3:23847207-23847216
19	CTCF	chr3:23847060-23847210	HAc	cerebellar:	n/a	chr3:23847105-23847113
20	WRNIP1	chr3:23847022-23847120	GM12878	blood:	n/a	n/a
21	MXI1	chr3:23846989-23847963	IMR90	lung:	n/a	n/a
22	POLR2A	chr3:23847036-23848947	K562	blood:	n/a	n/a
23	EP300	chr3:23847030-23847599	K562	blood:	n/a	n/a
24	YY1	chr3:23847049-23847312	GM12892	blood:	n/a	n/a
25	TBP	chr3:23847048-23847562	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr3:23847060-23847210	HRE	kidney:	n/a	chr3:23847105-23847113
27	CTCF	chr3:23847040-23847190	AG04450	lung:	n/a	chr3:23847105-23847113
28	BHLHE40	chr3:23846605-23847174	HepG2	liver:	n/a	chr3:23846798-23846807
29	HDAC2	chr3:23847071-23847586	K562	blood:	n/a	n/a
30	UBTF	chr3:23847019-23847777	K562	blood:	n/a	n/a
31	CTCF	chr3:23847060-23847210	GM12868	blood:	n/a	chr3:23847105-23847113
32	E2F4	chr3:23847047-23847181	MCF10A-Er-Src	breast:	n/a	chr3:23847154-23847166 chr3:23847150-23847165
33	MAZ	chr3:23847046-23849182	IMR90	lung:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
34	RCOR1	chr3:23846815-23847585	K562	blood:	n/a	n/a
35	HCFC1	chr3:23846781-23847640	K562	blood:	n/a	n/a
36	CTCF	chr3:23847040-23847190	GM12870	blood:	n/a	chr3:23847105-23847113
37	ZBTB7A	chr3:23847036-23848850	K562	blood:	n/a	chr3:23847207-23847216
38	EGR1	chr3:23847015-23847552	K562	blood:	n/a	chr3:23847207-23847220
39	SIN3A	chr3:23846868-23847867	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr3:23847020-23847170	NHDF-neo	bronchial:	n/a	chr3:23847105-23847113
41	MAZ	chr3:23846813-23848969	GM12878	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
42	JUND	chr3:23846964-23847641	K562	blood:	n/a	n/a
43	MAZ	chr3:23846771-23849343	K562	blood:	n/a	chr3:23848624-23848633 chr3:23848482-23848492 chr3:23847810-23847820
44	MXI1	chr3:23846611-23849467	SK-N-SH	brain:	n/a	n/a
45	TCF12	chr3:23846954-23847675	A549	lung:	n/a	n/a
46	BACH1	chr3:23847048-23847622	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr3:23847080-23847700	ECC-1	luminal epithelium:	n/a	n/a
48	MAX	chr3:23846978-23847645	K562	blood:	n/a	n/a
49	SPI1	chr3:23847065-23847870	GM12878	blood:	n/a	n/a
50	RAD21	chr3:23847056-23847638	SK-N-SH_RA	brain:	n/a	n/a

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
ENSG00000182247	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000174748	Chromatin interaction
ENSG00000233153	Chromatin interaction
ENSG00000151090	Chromatin interaction
ENSG00000197885	Chromatin interaction
ENSG00000174738	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:123 , 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	chr3:23846600-23847200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:23846600-23847200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:23846600-23847200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:23846600-23847600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr3:23846800-23847200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:23846800-23847200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:23846800-23847200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:23846800-23847200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr3:23846800-23847200	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr3:23846800-23847200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr3:23846800-23847200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr3:23846800-23847200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr3:23846800-23847200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr3:23846800-23847200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr3:23846800-23847200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr3:23846800-23847200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:23846800-23847200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr3:23846800-23847200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:23846800-23847200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:23846800-23847200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:23846800-23847200	Flanking Active TSS	Liver	Liver
23	chr3:23846800-23847200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr3:23846800-23847200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr3:23846800-23847200	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr3:23846800-23847200	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr3:23846800-23847200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr3:23846800-23847200	Enhancers	Placenta Amnion	Placenta Amnion
29	chr3:23846800-23847200	Enhancers	Small Intestine	intestine
30	chr3:23846800-23847200	Flanking Active TSS	GM12878-XiMat	blood
31	chr3:23846800-23847200	Flanking Active TSS	Hela-S3	cervix
32	chr3:23846800-23847200	Flanking Active TSS	HMEC	breast
33	chr3:23846800-23847200	Flanking Active TSS	K562	blood
34	chr3:23846800-23847400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr3:23846800-23847400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr3:23846800-23847800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:23846800-23848400	Active TSS	Brain Germinal Matrix	brain
38	chr3:23846800-23848600	Active TSS	Fetal Stomach	stomach
39	chr3:23846800-23848600	Active TSS	NH-A	brain
40	chr3:23846800-23848800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr3:23846800-23848800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:23846800-23848800	Active TSS	Primary T cells from cord blood	blood
43	chr3:23846800-23848800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:23846800-23848800	Active TSS	Adipose Nuclei	Adipose
45	chr3:23846800-23848800	Active TSS	Brain Anterior Caudate	brain
46	chr3:23846800-23848800	Active TSS	Fetal Brain Female	brain
47	chr3:23846800-23848800	Active TSS	HSMMtube	muscle
48	chr3:23846800-23848800	Active TSS	HUVEC	blood vessel
49	chr3:23846800-23849000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr3:23846800-23849000	Active TSS	HUES64 Cell Line	embryonic stem cell

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