Variant report

Variant	esv3446940
Chromosome Location	chr18:44410985-44411430
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	chr18:44409358..44411330-chr18:44412581..44415126,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62095377	chr18:44410993-44410994	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114649549	chr18:44411027-44411028	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559439982	chr18:44411030-44411031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565417301	chr18:44411046-44411047	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181184189	chr18:44411053-44411054	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs501882	chr18:44411066-44411067	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142460419	chr18:44411083-44411084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530348868	chr18:44411114-44411115	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs501062	chr18:44411135-44411136	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs112771838	chr18:44411137-44411138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374848279	chr18:44411174-44411175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374944143	chr18:44411176-44411177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571544786	chr18:44411217-44411218	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs36061170	chr18:44411228-44411229	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183917304	chr18:44411229-44411230	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531378856	chr18:44411243-44411244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533571604	chr18:44411245-44411246	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551186247	chr18:44411263-44411264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537881655	chr18:44411315-44411316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533936836	chr18:44411373-44411374	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44381400-44433000	Weak transcription	Gastric	stomach
2	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
3	chr18:44383600-44412000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:44386800-44417000	Weak transcription	Brain Angular Gyrus	brain
5	chr18:44391000-44432400	Weak transcription	Fetal Stomach	stomach
6	chr18:44391200-44414000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
8	chr18:44392600-44431400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
10	chr18:44393200-44433800	Weak transcription	Colonic Mucosa	Colon
11	chr18:44394400-44434000	Weak transcription	Fetal Kidney	kidney
12	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
14	chr18:44397400-44413600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:44398600-44422400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:44399200-44434000	Weak transcription	Fetal Brain Female	brain
17	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr18:44399600-44434400	Weak transcription	Fetal Intestine Small	intestine
19	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
20	chr18:44399800-44417000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
22	chr18:44401200-44418200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr18:44401200-44432200	Weak transcription	Fetal Intestine Large	intestine
24	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
25	chr18:44401400-44437600	Weak transcription	HMEC	breast
26	chr18:44402000-44440800	Weak transcription	A549	lung
27	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:44404800-44424400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:44406000-44424200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr18:44406400-44422600	Weak transcription	Placenta	Placenta
33	chr18:44406800-44433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:44407000-44416800	Strong transcription	Dnd41	blood
35	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr18:44407600-44413000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr18:44407600-44431400	Weak transcription	Brain Anterior Caudate	brain
38	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr18:44408000-44431200	Weak transcription	Brain Hippocampus Middle	brain
40	chr18:44408000-44433800	Weak transcription	NH-A	brain
41	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
42	chr18:44408200-44414600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
44	chr18:44408400-44414600	Weak transcription	HUVEC	blood vessel
45	chr18:44408400-44422600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr18:44408400-44425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr18:44408400-44432200	Weak transcription	Fetal Thymus	thymus
48	chr18:44408400-44432400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr18:44408400-44432400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr18:44408400-44433800	Weak transcription	Osteobl	bone

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