Variant report

Variant	esv1792942
Chromosome Location	chr18:38843538-38941569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2288 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2288 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10502760	chr18:38843538-38843539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577188201	chr18:38843550-38843551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35662124	chr18:38843560-38843561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559832434	chr18:38843569-38843570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35975470	chr18:38843575-38843576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs74567396	chr18:38843581-38843582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560956628	chr18:38843582-38843583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151234970	chr18:38843601-38843602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140396532	chr18:38843603-38843604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571195372	chr18:38843614-38843615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575979300	chr18:38843617-38843618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74345047	chr18:38843639-38843640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568763109	chr18:38843656-38843657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547647667	chr18:38843670-38843671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565684392	chr18:38843716-38843717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78347016	chr18:38843720-38843721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554300463	chr18:38843728-38843729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187446610	chr18:38843868-38843869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537118517	chr18:38843932-38843933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34846217	chr18:38843951-38843952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577156367	chr18:38844000-38844001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541097365	chr18:38844020-38844021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544935454	chr18:38844066-38844067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553629131	chr18:38844067-38844068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10853479	chr18:38844096-38844097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564463619	chr18:38844101-38844102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191465801	chr18:38844148-38844149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531700431	chr18:38844160-38844161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531152535	chr18:38844197-38844198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543487725	chr18:38844199-38844200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564857267	chr18:38844220-38844221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74561620	chr18:38844274-38844275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182832566	chr18:38844315-38844316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144903050	chr18:38844323-38844324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188752153	chr18:38844394-38844395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142025913	chr18:38844444-38844445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569475464	chr18:38844470-38844471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192216201	chr18:38844490-38844491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558248041	chr18:38844524-38844525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558990789	chr18:38844534-38844535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570086499	chr18:38844616-38844617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570906862	chr18:38844672-38844673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184282105	chr18:38844745-38844746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553362879	chr18:38844746-38844747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187942187	chr18:38844822-38844823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145899293	chr18:38844853-38844854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9957274	chr18:38844855-38844856	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575884482	chr18:38844858-38844859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138459769	chr18:38844880-38844881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564983422	chr18:38844906-38844907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Hepatocellular carcinoma	16750200	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	16774939	CNVD
Colorectal cancer	21297112	CNVD
Cancer	21183584	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Pancreatic cancer	21811587	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:38837400-38848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:38843800-38846400	Enhancers	Fetal Lung	lung
3	chr18:38843800-38847800	Enhancers	Fetal Stomach	stomach
4	chr18:38844600-38845000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr18:38844600-38845000	Enhancers	Gastric	stomach
6	chr18:38844600-38846600	Enhancers	Rectal Smooth Muscle	rectum
7	chr18:38844600-38847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:38844600-38847200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:38844800-38845200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr18:38844800-38845400	Enhancers	NHEK	skin
11	chr18:38845000-38846600	Weak transcription	Gastric	stomach
12	chr18:38845200-38845400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr18:38845200-38847200	Enhancers	Colon Smooth Muscle	Colon
14	chr18:38845400-38848400	Weak transcription	NHEK	skin
15	chr18:38846400-38846800	Weak transcription	Fetal Lung	lung
16	chr18:38846400-38847200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:38846400-38847200	Enhancers	Fetal Intestine Small	intestine
18	chr18:38846600-38847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:38846800-38847200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr18:38846800-38847200	Enhancers	Fetal Lung	lung
21	chr18:38847000-38847200	Enhancers	Gastric	stomach
22	chr18:38847600-38848800	Enhancers	Stomach Mucosa	stomach
23	chr18:38848400-38849000	Enhancers	NHEK	skin
24	chr18:38848600-38849000	Enhancers	HMEC	breast
25	chr18:38848800-38849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:38851200-38851400	Weak transcription	Pancreas	Pancrea
27	chr18:38851600-38852000	ZNF genes & repeats	Pancreas	Pancrea
28	chr18:38877000-38878400	Enhancers	Hela-S3	cervix
29	chr18:38881000-38882600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr18:38882600-38883200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:38883200-38887200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr18:38887200-38887800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr18:38887800-38890400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr18:38889400-38891400	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:38890000-38890400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr18:38890200-38890800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr18:38890200-38899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:38890400-38892400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr18:38890400-38892400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr18:38890600-38891400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr18:38890800-38891600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr18:38890800-38892800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr18:38890800-38893200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr18:38891000-38891200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr18:38891000-38891200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr18:38891000-38893000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr18:38891200-38892200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr18:38891200-38892400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:38891200-38892800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:38891200-38892800	Enhancers	Brain Germinal Matrix	brain

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