Variant report

Variant	nsv833629
Chromosome Location	chr18:38791940-38959145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:38950254..38953080-chr18:38959492..38961423,2	MCF-7	breast:
2	chr18:38826849..38829663-chr18:38831825..38834175,2	K562	blood:
3	chr18:38826849..38829663-chr18:38831825..38834175,2	K562	blood:
4	chr18:38959101..38961726-chr18:38962270..38965205,2	K562	blood:

Extended variants
information (count: 3542 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3542 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76740747	chr18:38791965-38791966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16974206	chr18:38791966-38791967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575138273	chr18:38792017-38792018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186049461	chr18:38792080-38792081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542569271	chr18:38792081-38792082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189780973	chr18:38792122-38792123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181106373	chr18:38792132-38792133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539525201	chr18:38792135-38792136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140325591	chr18:38792173-38792174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543912675	chr18:38792196-38792197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544082667	chr18:38792198-38792199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9947910	chr18:38792201-38792202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186134734	chr18:38792202-38792203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114356164	chr18:38792219-38792220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559496737	chr18:38792245-38792246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35422113	chr18:38792330-38792331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538628563	chr18:38792377-38792378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548517947	chr18:38792378-38792379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569889761	chr18:38792485-38792486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531041409	chr18:38792523-38792524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552367888	chr18:38792589-38792590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571295287	chr18:38792634-38792635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150375108	chr18:38792635-38792636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190509868	chr18:38792665-38792666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8087566	chr18:38792674-38792675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536544859	chr18:38792704-38792705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113605460	chr18:38792725-38792726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576290711	chr18:38792798-38792799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537209724	chr18:38792800-38792801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558787479	chr18:38792801-38792802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577226852	chr18:38792875-38792876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183475676	chr18:38792889-38792890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12607357	chr18:38792928-38792929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142675196	chr18:38792959-38792960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62080535	chr18:38793018-38793019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563661335	chr18:38793030-38793031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1557327	chr18:38793049-38793050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs563603253	chr18:38793061-38793062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531130163	chr18:38793067-38793068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186533075	chr18:38793073-38793074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541988212	chr18:38793139-38793140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145924001	chr18:38793155-38793156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192234434	chr18:38793175-38793176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565648408	chr18:38793188-38793189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536288596	chr18:38793189-38793190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548223946	chr18:38793198-38793199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377232260	chr18:38793206-38793207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569939655	chr18:38793234-38793235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111847950	chr18:38793318-38793319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560289550	chr18:38793363-38793364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:38791400-38792400	Enhancers	Fetal Lung	lung
2	chr18:38792400-38796800	Weak transcription	Fetal Lung	lung
3	chr18:38796800-38798000	Enhancers	Fetal Lung	lung
4	chr18:38797600-38798000	Enhancers	Fetal Brain Male	brain
5	chr18:38803200-38805600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:38805600-38807200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:38805800-38807000	Enhancers	Fetal Brain Male	brain
8	chr18:38805800-38807400	Enhancers	Fetal Lung	lung
9	chr18:38805800-38807400	Enhancers	HMEC	breast
10	chr18:38806000-38806600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:38806000-38807200	Enhancers	NHEK	skin
12	chr18:38806200-38806600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr18:38806200-38808200	Enhancers	Fetal Brain Female	brain
14	chr18:38807000-38807600	Weak transcription	Fetal Brain Male	brain
15	chr18:38807200-38808000	Weak transcription	NHEK	skin
16	chr18:38807200-38808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:38807400-38807800	Weak transcription	HMEC	breast
18	chr18:38807600-38807800	Enhancers	Fetal Brain Male	brain
19	chr18:38807800-38808600	Enhancers	HMEC	breast
20	chr18:38807800-38811400	Weak transcription	Fetal Brain Male	brain
21	chr18:38808000-38808200	Enhancers	NHEK	skin
22	chr18:38808200-38808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:38809400-38810000	Enhancers	Fetal Heart	heart
24	chr18:38811400-38811600	Enhancers	Fetal Brain Male	brain
25	chr18:38811600-38812000	Weak transcription	Fetal Brain Male	brain
26	chr18:38812000-38812400	Enhancers	Fetal Brain Male	brain
27	chr18:38831400-38832400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:38833800-38834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr18:38837200-38837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:38837400-38848800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr18:38843800-38846400	Enhancers	Fetal Lung	lung
32	chr18:38843800-38847800	Enhancers	Fetal Stomach	stomach
33	chr18:38844600-38845000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr18:38844600-38845000	Enhancers	Gastric	stomach
35	chr18:38844600-38846600	Enhancers	Rectal Smooth Muscle	rectum
36	chr18:38844600-38847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:38844600-38847200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:38844800-38845200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr18:38844800-38845400	Enhancers	NHEK	skin
40	chr18:38845000-38846600	Weak transcription	Gastric	stomach
41	chr18:38845200-38845400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr18:38845200-38847200	Enhancers	Colon Smooth Muscle	Colon
43	chr18:38845400-38848400	Weak transcription	NHEK	skin
44	chr18:38846400-38846800	Weak transcription	Fetal Lung	lung
45	chr18:38846400-38847200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:38846400-38847200	Enhancers	Fetal Intestine Small	intestine
47	chr18:38846600-38847200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:38846800-38847200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr18:38846800-38847200	Enhancers	Fetal Lung	lung
50	chr18:38847000-38847200	Enhancers	Gastric	stomach

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