Variant report

Variant	esv3349147
Chromosome Location	chr18:11977812-11978248
allele	n/a
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	CEBPB	chr18:11978235-11978381	A549	lung:	n/a	n/a
2	CEBPB	chr18:11977878-11978016	K562	blood:	n/a	n/a
3	CEBPB	chr18:11978235-11978361	K562	blood:	n/a	n/a
4	CEBPB	chr18:11977815-11978751	Hela-S3	cervix:	n/a	chr18:11977832-11977845
5	FOS	chr18:11978166-11978437	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr18:11978238-11978435	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr18:11978171-11978434	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr18:11978238-11978358	MCF10A-Er-Src	breast:	n/a	n/a
9	GTF3C2	chr18:11976188-11977905	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr18:11978238-11978362	Hela-S3	cervix:	n/a	n/a
11	MYC	chr18:11978238-11978377	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr18:11977957-11977978	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11972504..11978571-chr18:11978817..11983017,10	K562	blood:
2	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:

Variant related genes	Relation type
IMPA2	TF binding region
ENSG00000141401	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576039662	chr18:11977917-11977918	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs543173907	chr18:11977932-11977933	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181878043	chr18:11977961-11977962	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371304671	chr18:11977965-11977966	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs112069761	chr18:11978005-11978006	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs531996363	chr18:11978008-11978009	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs540653915	chr18:11978022-11978023	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs571195959	chr18:11978034-11978035	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186561819	chr18:11978112-11978113	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs4797606	chr18:11978127-11978128	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35315633	chr18:11978168-11978169	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs531805317	chr18:11978185-11978186	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200488265	chr18:11978207-11978208	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs9949408	chr18:11978210-11978211	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs201683921	chr18:11978213-11978214	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs894611	chr18:11978214-11978215	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs398032001	chr18:11978236-11978237	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550025820	chr18:11978241-11978242	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11964400-11980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:11973000-11979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr18:11973000-11979800	Weak transcription	Primary B cells from cord blood	blood
4	chr18:11973800-11979000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:11973800-11980000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr18:11974000-11979000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr18:11974000-11979000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr18:11974000-11979000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr18:11975000-11979000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr18:11975000-11979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr18:11975000-11979200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:11975200-11978600	Weak transcription	Fetal Lung	lung
13	chr18:11976600-11978000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:11976600-11980200	Enhancers	Placenta	Placenta
15	chr18:11976800-11979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr18:11977000-11979000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr18:11977000-11979000	Weak transcription	K562	blood
18	chr18:11977000-11979800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:11977000-11979800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:11977000-11979800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:11977000-11979800	Enhancers	Hela-S3	cervix
22	chr18:11977000-11980000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:11977000-11980000	Weak transcription	Fetal Kidney	kidney
24	chr18:11977000-11980000	Weak transcription	HSMM	muscle
25	chr18:11977000-11980200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:11977200-11979000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr18:11977200-11979000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr18:11977200-11979000	Weak transcription	Fetal Stomach	stomach
29	chr18:11977200-11979600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:11977200-11980000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:11977200-11980000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr18:11977400-11979200	Weak transcription	HepG2	liver
33	chr18:11977400-11979800	Weak transcription	Fetal Muscle Leg	muscle
34	chr18:11977400-11980200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:11977600-11980000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr18:11977800-11978800	Weak transcription	A549	lung
37	chr18:11977800-11979400	Weak transcription	NHEK	skin
38	chr18:11977800-11979800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr18:11977800-11979800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:11977800-11979800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr18:11977800-11979800	Weak transcription	NHDF-Ad	bronchial
42	chr18:11977800-11980000	Weak transcription	Osteobl	bone
43	chr18:11978000-11979800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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