Variant report

Variant	esv3410497
Chromosome Location	chr18:45258054-45261252
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	chr18:45254321..45256756-chr18:45258572..45260465,2	MCF-7	breast:
2	chr18:45260827..45265952-chr18:45267658..45270956,4	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569820560	chr18:45258062-45258063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146674742	chr18:45258072-45258073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559093150	chr18:45258195-45258196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529508456	chr18:45258199-45258200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181957717	chr18:45258215-45258216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116753576	chr18:45258221-45258222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370519157	chr18:45258247-45258248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555019889	chr18:45258262-45258263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187042949	chr18:45258285-45258286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3018347	chr18:45258293-45258294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112909563	chr18:45258299-45258300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369704004	chr18:45258350-45258351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374630758	chr18:45258373-45258374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191485673	chr18:45258411-45258412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375406112	chr18:45258428-45258429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73953298	chr18:45258429-45258430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs139577211	chr18:45258444-45258445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372195763	chr18:45258452-45258453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16957728	chr18:45258468-45258469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs564595712	chr18:45258495-45258496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527397439	chr18:45258500-45258501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540593526	chr18:45258534-45258535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148821244	chr18:45258655-45258656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529693420	chr18:45258667-45258668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544705662	chr18:45258681-45258682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550041832	chr18:45258717-45258718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569900281	chr18:45258745-45258746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547031947	chr18:45258749-45258750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113823985	chr18:45258865-45258866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532287429	chr18:45258867-45258868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2653626	chr18:45258930-45258931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183398381	chr18:45258948-45258949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185662189	chr18:45259003-45259004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190030957	chr18:45259052-45259053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372718417	chr18:45259070-45259071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182308064	chr18:45259077-45259078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537095380	chr18:45259119-45259120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143417566	chr18:45259134-45259135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577475408	chr18:45259135-45259136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148364253	chr18:45259152-45259153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141526188	chr18:45259160-45259161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147081181	chr18:45259192-45259193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540712854	chr18:45259207-45259208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12458028	chr18:45259208-45259209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs574373184	chr18:45259217-45259218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199862261	chr18:45259222-45259223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186634392	chr18:45259233-45259234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12458013	chr18:45259283-45259284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs376011990	chr18:45259317-45259318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138461401	chr18:45259342-45259343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Lung cancer	21569311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45249800-45261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:45257400-45258200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:45258200-45260200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:45259800-45260000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:45260000-45261600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:45260200-45264600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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