Variant report

Variant	esv2761998
Chromosome Location	chr18:30196804-30209318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:30195814..30198126-chr18:30198188..30200453,2	MCF-7	breast:
2	chr18:30198034..30199704-chr18:30199941..30202400,2	MCF-7	breast:
3	chr18:30198034..30199704-chr18:30199941..30202400,2	MCF-7	breast:
4	chr18:30198028..30200744-chr18:30213784..30215760,2	MCF-7	breast:
5	chr18:30188889..30190990-chr18:30209240..30211617,2	MCF-7	breast:
6	chr18:30195814..30198126-chr18:30198188..30200453,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9957582	chr18:30196804-30196805	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142941943	chr18:30196807-30196808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138819160	chr18:30196866-30196867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368842184	chr18:30196868-30196869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75066198	chr18:30196896-30196897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537054119	chr18:30196902-30196903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538648429	chr18:30196915-30196916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139851850	chr18:30196923-30196924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184965456	chr18:30196933-30196934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555984898	chr18:30196934-30196935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536515230	chr18:30196961-30196962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149853392	chr18:30196969-30196970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562535559	chr18:30197235-30197236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529658922	chr18:30197236-30197237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574241671	chr18:30197269-30197270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs367703542	chr18:30197311-30197312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549240440	chr18:30197335-30197336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561252093	chr18:30197349-30197350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535373244	chr18:30197372-30197373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546831261	chr18:30197388-30197389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571647990	chr18:30197444-30197445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531716049	chr18:30197543-30197544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147946644	chr18:30197548-30197549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553131260	chr18:30197553-30197554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550685691	chr18:30197565-30197566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569204004	chr18:30197571-30197572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577852444	chr18:30197598-30197599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188950438	chr18:30197602-30197603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141170676	chr18:30197617-30197618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181881781	chr18:30197619-30197620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542920901	chr18:30197622-30197623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73409218	chr18:30197631-30197632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558741403	chr18:30197657-30197658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186202565	chr18:30197664-30197665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544263384	chr18:30197809-30197810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575132713	chr18:30197812-30197813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556009028	chr18:30197824-30197825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574051047	chr18:30197866-30197867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541437164	chr18:30197874-30197875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189817988	chr18:30197908-30197909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs330328	chr18:30197920-30197921	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs16963609	chr18:30197923-30197924	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181465069	chr18:30197949-30197950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145027381	chr18:30198000-30198001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551005588	chr18:30198011-30198012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562904159	chr18:30198048-30198049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569383103	chr18:30198090-30198091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115732764	chr18:30198102-30198103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147597229	chr18:30198129-30198130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566258537	chr18:30198130-30198131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:30196800-30197000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr18:30197200-30198400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr18:30197800-30198800	Enhancers	Fetal Kidney	kidney
4	chr18:30197800-30199000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr18:30198200-30199000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr18:30198400-30198800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr18:30198400-30198800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:30198400-30198800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr18:30198400-30199000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr18:30198400-30199200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr18:30198400-30199200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr18:30198400-30199200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr18:30205200-30205600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:30208800-30209000	Enhancers	Fetal Brain Male	brain
15	chr18:30209000-30210000	Weak transcription	Fetal Brain Male	brain

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