Variant report

Variant	esv3335268
Chromosome Location	chr18:11769013-11769232
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	chr18:11768539..11770785-chr18:11848964..11851728,2	K562	blood:

Variant related genes	Relation type
ENSG00000255112	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572116772	chr18:11769022-11769023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542924064	chr18:11769023-11769024	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554551460	chr18:11769030-11769031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs548762476	chr18:11769031-11769032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190007194	chr18:11769043-11769044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544191050	chr18:11769045-11769046	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562503219	chr18:11769053-11769054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs7240943	chr18:11769074-11769075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7239638	chr18:11769080-11769081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs7240949	chr18:11769082-11769083	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7240055	chr18:11769088-11769089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs186341349	chr18:11769119-11769120	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189423996	chr18:11769125-11769126	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577719374	chr18:11769144-11769145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs180818569	chr18:11769145-11769146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs8095996	chr18:11769148-11769149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs8094853	chr18:11769154-11769155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200678926	chr18:11769155-11769156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs8096000	chr18:11769156-11769157	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs57746402	chr18:11769162-11769163	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs8094860	chr18:11769164-11769165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs148894415	chr18:11769193-11769194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs118104908	chr18:11769199-11769200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186852394	chr18:11769208-11769209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11752800-11774000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:11753000-11774800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr18:11753000-11775400	Weak transcription	Gastric	stomach
4	chr18:11756600-11769200	Weak transcription	Fetal Brain Female	brain
5	chr18:11758400-11785600	Weak transcription	Brain Anterior Caudate	brain
6	chr18:11763400-11780400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:11767600-11785400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:11767600-11789000	Weak transcription	Esophagus	oesophagus
9	chr18:11767800-11769400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:11767800-11771400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr18:11767800-11783800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:11767800-11784000	Weak transcription	Aorta	Aorta
13	chr18:11768200-11772800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr18:11768400-11769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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