Variant report

Variant	esv1793532
Chromosome Location	chr18:44767785-44775293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2684844	chr18:44767785-44767786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184235854	chr18:44767821-44767822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574723504	chr18:44767832-44767833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34476879	chr18:44767833-44767834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543221126	chr18:44767855-44767856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563623463	chr18:44767866-44767867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528876636	chr18:44767880-44767881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548938400	chr18:44767906-44767907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577020044	chr18:44767975-44767976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11285635	chr18:44768010-44768011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371715857	chr18:44768013-44768014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12956009	chr18:44768024-44768025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190729632	chr18:44768042-44768043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548305430	chr18:44768062-44768063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141768436	chr18:44768117-44768118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367662133	chr18:44768141-44768142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553278897	chr18:44768150-44768151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573415909	chr18:44768159-44768160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550848622	chr18:44768218-44768219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368640948	chr18:44768269-44768270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2668773	chr18:44768295-44768296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs539782178	chr18:44768314-44768315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74540703	chr18:44768341-44768342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565705956	chr18:44768352-44768353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534587189	chr18:44768401-44768402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557504077	chr18:44768412-44768413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574425056	chr18:44768481-44768482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1512236	chr18:44768493-44768494	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs556839081	chr18:44768512-44768513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576959299	chr18:44768550-44768551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143738294	chr18:44768583-44768584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559201536	chr18:44768601-44768602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75899679	chr18:44768616-44768617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199904892	chr18:44768642-44768643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148115742	chr18:44768697-44768698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141913372	chr18:44768709-44768710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370553420	chr18:44768769-44768770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371890083	chr18:44768772-44768773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543045713	chr18:44768816-44768817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570261263	chr18:44768842-44768843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570121143	chr18:44768895-44768896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530868203	chr18:44768975-44768976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73954301	chr18:44769017-44769018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114616784	chr18:44769030-44769031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533546707	chr18:44769089-44769090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529607341	chr18:44769122-44769123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117502844	chr18:44769142-44769143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60469708	chr18:44769192-44769193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567137833	chr18:44769225-44769226	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs573145282	chr18:44769229-44769230	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44762000-44769400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr18:44763400-44769400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:44763400-44772400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:44763600-44769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:44766600-44768800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr18:44766800-44769200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:44768800-44770600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr18:44769000-44770600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr18:44769200-44770400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:44769200-44771200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr18:44769200-44772800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr18:44769400-44769800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:44769400-44770400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr18:44769800-44770000	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr18:44769800-44772600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr18:44770400-44772600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
17	chr18:44770600-44770800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr18:44770600-44770800	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr18:44770600-44770800	Bivalent Enhancer	Fetal Brain Female	brain
20	chr18:44770600-44771400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr18:44770600-44772400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr18:44770600-44772600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr18:44771000-44772200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:44771200-44772000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr18:44771200-44772600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr18:44772200-44772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:44772200-44772800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr18:44772200-44773000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr18:44772400-44772600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr18:44772400-44772800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr18:44772600-44772800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr18:44772600-44772800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr18:44772600-44772800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr18:44772600-44772800	Bivalent Enhancer	Liver	Liver
37	chr18:44772600-44773000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr18:44772600-44774000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr18:44772600-44774200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr18:44772800-44773000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr18:44772800-44773200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr18:44772800-44773200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr18:44772800-44773800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr18:44772800-44774400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr18:44772800-44774400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr18:44772800-44775400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr18:44773000-44773200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr18:44773000-44773200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr18:44773000-44773200	Bivalent Enhancer	Brain Germinal Matrix	brain
50	chr18:44773000-44773600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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