Variant report

Variant	esv3405228
Chromosome Location	chr18:28728154-28732452
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	chr18:28726707..28729377-chr18:28734464..28736505,2	MCF-7	breast:
2	chr18:28731581..28734602-chr18:28736991..28740120,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DSG1-2	chr18:28730762-28730851	ENSG00000265888.1

Extended variants
information (count: 220 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79165040	chr18:28728155-28728156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375729321	chr18:28728195-28728196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11874325	chr18:28728198-28728199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs375344120	chr18:28728241-28728242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370742768	chr18:28728249-28728250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192134541	chr18:28728255-28728256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577721549	chr18:28728263-28728264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11877211	chr18:28728268-28728269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs11877142	chr18:28728281-28728282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs184302189	chr18:28728295-28728296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76440929	chr18:28728323-28728324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377522187	chr18:28728328-28728329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2577067	chr18:28728384-28728385	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs141418469	chr18:28728395-28728396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3213883	chr18:28728411-28728412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs369594353	chr18:28728418-28728419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150811644	chr18:28728421-28728422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374632068	chr18:28728432-28728433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377734928	chr18:28728437-28728438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150198827	chr18:28728462-28728463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374935177	chr18:28728466-28728467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138689452	chr18:28728468-28728469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551670498	chr18:28728486-28728487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563443467	chr18:28728494-28728495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201618811	chr18:28728503-28728504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548602276	chr18:28728517-28728518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs267605151	chr18:28728524-28728525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372827623	chr18:28728525-28728526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs267605152	chr18:28728530-28728531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113711768	chr18:28728547-28728548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375516106	chr18:28728578-28728579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148964275	chr18:28728603-28728604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200495459	chr18:28728605-28728606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370850157	chr18:28728644-28728645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372013689	chr18:28728657-28728658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571443885	chr18:28728681-28728682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201057807	chr18:28728693-28728694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530246428	chr18:28728694-28728695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199640650	chr18:28728705-28728706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538874813	chr18:28728720-28728721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116585580	chr18:28728800-28728801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187939726	chr18:28728801-28728802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537511589	chr18:28728881-28728882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555822346	chr18:28728882-28728883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574034282	chr18:28728947-28728948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74921217	chr18:28728993-28728994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553667846	chr18:28729018-28729019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564835470	chr18:28729019-28729020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112536017	chr18:28729020-28729021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111979832	chr18:28729023-28729024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
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
Glioblastoma multiforme	21922591	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
Lung cancer	18438408	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
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28710600-28740800	Weak transcription	Primary T cells from cord blood	blood
2	chr18:28726600-28730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr18:28726600-28734000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:28730000-28730400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr18:28730000-28730400	ZNF genes & repeats	Gastric	stomach
6	chr18:28730000-28730400	ZNF genes & repeats	Pancreas	Pancrea
7	chr18:28730000-28730600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:28730000-28730600	ZNF genes & repeats	Esophagus	oesophagus
9	chr18:28730400-28740800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr18:28730600-28737400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:28730600-28742600	Weak transcription	Esophagus	oesophagus

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