Variant report

Variant	esv3435152
Chromosome Location	chr18:8940157-8940509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8937660..8940609-chr18:8949804..8952310,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386800998	chr18:8940214-8940215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7240342	chr18:8940215-8940216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187798077	chr18:8940228-8940229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573952897	chr18:8940237-8940238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529709400	chr18:8940239-8940240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377645307	chr18:8940281-8940282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538150274	chr18:8940286-8940287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556307581	chr18:8940317-8940318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578100702	chr18:8940340-8940341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545613871	chr18:8940341-8940342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367945393	chr18:8940349-8940350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374513470	chr18:8940353-8940354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79818472	chr18:8940367-8940368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11665203	chr18:8940369-8940370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71168014	chr18:8940374-8940375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377754918	chr18:8940375-8940376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371195165	chr18:8940379-8940380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs202173341	chr18:8940387-8940388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371053200	chr18:8940434-8940435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564025746	chr18:8940442-8940443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs199592114	chr18:8940474-8940475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145650979	chr18:8940483-8940484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370558409	chr18:8940494-8940495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386387017	chr18:8940495-8940496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570708004	chr18:8940497-8940498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547679405	chr18:8940504-8940505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35557148	chr18:8940505-8940506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199862250	chr18:8940506-8940507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550356319	chr18:8940507-8940508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8929200-8942800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:8934200-8943200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr18:8936200-8940800	Enhancers	K562	blood
4	chr18:8937600-8942000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:8937600-8942000	Weak transcription	NH-A	brain
6	chr18:8937600-8942000	Weak transcription	NHLF	lung
7	chr18:8937600-8942800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:8937600-8948000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr18:8937800-8941800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:8937800-8941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr18:8938000-8940600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:8938000-8941800	Weak transcription	NHDF-Ad	bronchial
13	chr18:8938000-8942000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:8938200-8942000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:8938200-8943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:8938200-8943600	Weak transcription	HMEC	breast
17	chr18:8938800-8942000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:8938800-8943400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:8939000-8942000	Weak transcription	Fetal Kidney	kidney
20	chr18:8939000-8943800	Weak transcription	NHEK	skin
21	chr18:8939000-8945000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:8939000-8945800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:8939200-8940600	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr18:8939200-8941200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr18:8939200-8943000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr18:8939200-8943200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:8939200-8943200	Weak transcription	HSMMtube	muscle
28	chr18:8939200-8944200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr18:8939400-8942000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr18:8939400-8942000	Weak transcription	HSMM	muscle
31	chr18:8939400-8944200	Weak transcription	Primary B cells from cord blood	blood
32	chr18:8939600-8940400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr18:8939600-8942000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr18:8939600-8942200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:8939600-8943800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr18:8939600-8945000	Weak transcription	Fetal Thymus	thymus
37	chr18:8939800-8940200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:8939800-8942800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr18:8940000-8942200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr18:8940000-8944800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr18:8940400-8941200	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links