Variant report

Variant	nsv118788
Chromosome Location	chr18:12419965-12419969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr18:12419896-12420532	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr18:12419833-12420174	Hela-S3	cervix:	n/a	n/a
3	CEBPD	chr18:12419910-12420249	HepG2	liver:	n/a	n/a
4	CHD2	chr18:12419890-12420560	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr18:12419940-12420090	NHDF-neo	bronchial:	n/a	n/a
6	CTCF	chr18:12419920-12420070	HRE	kidney:	n/a	n/a
7	CTCF	chr18:12419940-12420170	NHEK	skin:	n/a	n/a
8	CTCF	chr18:12419900-12420050	HAc	cerebellar:	n/a	n/a
9	CTCF	chr18:12419960-12420110	AG09319	gingival:	n/a	n/a
10	CTCF	chr18:12419940-12420090	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr18:12419920-12420070	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr18:12419960-12420110	SK-N-SH_RA	brain:	n/a	n/a
13	CTCF	chr18:12419960-12420110	Caco-2	colon:	n/a	n/a
14	CTCF	chr18:12419960-12420110	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr18:12419940-12420090	HPAF	blood vessel:	n/a	n/a
16	CTCF	chr18:12419900-12420050	RPTEC	kidney:	n/a	n/a
17	CTCF	chr18:12419960-12420110	HPF	lung:	n/a	n/a
18	CTCF	chr18:12419940-12420090	HPF	lung:	n/a	n/a
19	CTCF	chr18:12419960-12420110	HMF	breast:	n/a	n/a
20	CTCF	chr18:12419960-12420110	AG10803	skin:	n/a	n/a
21	CTCF	chr18:12419940-12420090	BJ	skin:	n/a	n/a
22	CTCF	chr18:12419960-12420110	HCFaa	heart:	n/a	n/a
23	CTCF	chr18:12419920-12420070	AG04450	lung:	n/a	n/a
24	E2F6	chr18:12419572-12420585	H1-hESC	embryonic stem cell:	n/a	chr18:12420502-12420512
25	ELF1	chr18:12419765-12420605	GM12878	blood:	n/a	chr18:12420278-12420290 chr18:12420156-12420168 chr18:12420150-12420162
26	FOXA2	chr18:12419856-12420082	HepG2	liver:	n/a	n/a
27	GTF2F1	chr18:12419926-12420366	Hela-S3	cervix:	n/a	n/a
28	GTF2F1	chr18:12419914-12420260	H1-hESC	embryonic stem cell:	n/a	n/a
29	HA-E2F1	chr18:12419615-12420415	MCF-7	breast:	n/a	n/a
30	HDAC2	chr18:12419866-12420566	HepG2	liver:	n/a	n/a
31	HDAC2	chr18:12419860-12420644	MCF-7	breast:	n/a	n/a
32	HEY1	chr18:12419733-12420608	HepG2	liver:	n/a	chr18:12420156-12420171
33	HEY1	chr18:12419822-12420561	HepG2	liver:	n/a	chr18:12420156-12420171
34	MAX	chr18:12419789-12420647	HepG2	liver:	n/a	n/a
35	MAX	chr18:12419926-12420584	GM12878	blood:	n/a	n/a
36	MAX	chr18:12419776-12420700	HepG2	liver:	n/a	n/a
37	MAX	chr18:12419936-12420592	NB4	blood:	n/a	n/a
38	MAX	chr18:12419849-12420658	ECC-1	luminal epithelium:	n/a	n/a
39	MAX	chr18:12419703-12420660	HCT-116	colon:	n/a	n/a
40	MAX	chr18:12419770-12420642	MCF-7	breast:	n/a	n/a
41	MAX	chr18:12419874-12420668	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr18:12419719-12420559	ECC-1	luminal epithelium:	n/a	n/a
43	MAX	chr18:12419863-12420557	Hela-S3	cervix:	n/a	n/a
44	MAX	chr18:12419892-12420648	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAZ	chr18:12419934-12420609	HepG2	liver:	n/a	n/a
46	MTA3	chr18:12419862-12420224	GM12878	blood:	n/a	n/a
47	MTA3	chr18:12419811-12420603	GM12878	blood:	n/a	n/a
48	MXI1	chr18:12419880-12420551	HepG2	liver:	n/a	n/a
49	MXI1	chr18:12419939-12420537	Hela-S3	cervix:	n/a	n/a
50	MXI1	chr18:12419713-12420736	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
2	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
3	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
4	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:
5	chr18:12418687..12420720-chr18:12430201..12431737,2	MCF-7	breast:
6	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000215527	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000141391	chromatin interactions
ENSG00000256786	chromatin interactions

Extended variants
information (count: 0)
Associated
traits (count: 57 )

No data

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12416000-12420000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:12416200-12420000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:12416200-12420000	Weak transcription	Aorta	Aorta
5	chr18:12416200-12420000	Weak transcription	Fetal Heart	heart
6	chr18:12416200-12420000	Weak transcription	Left Ventricle	heart
7	chr18:12416200-12420000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr18:12416200-12420000	Weak transcription	Spleen	Spleen
9	chr18:12416400-12420000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:12416400-12420000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr18:12416400-12420000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr18:12416400-12420000	Weak transcription	HSMM	muscle
13	chr18:12416400-12420000	Weak transcription	HSMMtube	muscle
14	chr18:12417800-12420000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr18:12418200-12420000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:12418200-12420000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:12418800-12420000	Weak transcription	HMEC	breast
19	chr18:12419600-12420000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:12419600-12420000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr18:12419600-12420400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:12419600-12420600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:12419600-12420800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:12419600-12421000	Active TSS	Brain Hippocampus Middle	brain
25	chr18:12419600-12421000	Active TSS	Fetal Brain Female	brain
26	chr18:12419800-12420000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr18:12419800-12420000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:12419800-12420000	Active TSS	Primary B cells from cord blood	blood
29	chr18:12419800-12420000	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr18:12419800-12420000	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr18:12419800-12420000	Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr18:12419800-12420000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
33	chr18:12419800-12420000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr18:12419800-12420000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr18:12419800-12420000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:12419800-12420000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:12419800-12420000	Active TSS	Adipose Nuclei	Adipose
38	chr18:12419800-12420000	Enhancers	Liver	Liver
39	chr18:12419800-12420000	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr18:12419800-12420000	Enhancers	Esophagus	oesophagus
41	chr18:12419800-12420000	Active TSS	Fetal Muscle Leg	muscle
42	chr18:12419800-12420000	Enhancers	Lung	lung
43	chr18:12419800-12420000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr18:12419800-12420000	Active TSS	Stomach Mucosa	stomach
45	chr18:12419800-12420000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr18:12419800-12420000	Flanking Active TSS	HepG2	liver
47	chr18:12419800-12420000	Active TSS	HUVEC	blood vessel
48	chr18:12419800-12420000	Enhancers	NHEK	skin
49	chr18:12419800-12420200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr18:12419800-12420200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links