Variant report

Variant	esv3420140
Chromosome Location	chr18:45477754-45478802
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	chr18:45452201..45455106-chr18:45476820..45479374,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553353587	chr18:45477838-45477839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183105728	chr18:45477874-45477875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375400243	chr18:45477875-45477876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540506925	chr18:45477909-45477910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1573364	chr18:45477928-45477929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535776881	chr18:45478050-45478051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs202177304	chr18:45478060-45478061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555529033	chr18:45478065-45478066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145811401	chr18:45478168-45478169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544403019	chr18:45478180-45478181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563198352	chr18:45478252-45478253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576888482	chr18:45478260-45478261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112907556	chr18:45478294-45478295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377619152	chr18:45478376-45478377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370927942	chr18:45478411-45478412	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs531919977	chr18:45478437-45478438	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545455867	chr18:45478472-45478473	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs559331389	chr18:45478474-45478475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs145460470	chr18:45478485-45478486	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs548544678	chr18:45478493-45478494	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs561863186	chr18:45478521-45478522	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs530679381	chr18:45478522-45478523	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs550766024	chr18:45478581-45478582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs570829152	chr18:45478624-45478625	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs539950098	chr18:45478700-45478701	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs546661349	chr18:45478744-45478745	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs187785530	chr18:45478748-45478749	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs149219911	chr18:45478765-45478766	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs555592169	chr18:45478783-45478784	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs191086682	chr18:45478788-45478789	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs538022214	chr18:45478791-45478792	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs558354431	chr18:45478793-45478794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Acute lymphoblastic leukemia	20435627	CNVD
Asthma	20841430	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45472400-45479800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:45475600-45479800	Weak transcription	Aorta	Aorta
3	chr18:45475600-45480000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr18:45476000-45480200	Weak transcription	Brain Substantia Nigra	brain
5	chr18:45476600-45478400	Weak transcription	Fetal Brain Male	brain
6	chr18:45476600-45479800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr18:45476600-45479800	Weak transcription	Adipose Nuclei	Adipose
8	chr18:45476800-45478400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:45477200-45480000	Weak transcription	A549	lung
10	chr18:45477600-45479800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr18:45478000-45490800	Weak transcription	Pancreas	Pancrea
12	chr18:45478200-45478600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:45478400-45478800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr18:45478400-45479800	Enhancers	Dnd41	blood
15	chr18:45478400-45480400	Enhancers	Fetal Brain Male	brain
16	chr18:45478400-45481000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:45478400-45481200	Enhancers	Primary hematopoietic stem cells	blood
18	chr18:45478600-45478800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:45478600-45478800	Bivalent Enhancer	Primary B cells from cord blood	blood
20	chr18:45478600-45478800	Enhancers	Psoas Muscle	Psoas
21	chr18:45478600-45478800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr18:45478600-45478800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr18:45478600-45479000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr18:45478600-45480000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr18:45478600-45480600	Enhancers	Primary B cells from peripheral blood	blood
26	chr18:45478600-45482000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr18:45478800-45479800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr18:45478800-45479800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr18:45478800-45480000	Weak transcription	Psoas Muscle	Psoas
30	chr18:45478800-45480800	Enhancers	Primary B cells from cord blood	blood
31	chr18:45478800-45480800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:45478800-45481400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr18:45478800-45481800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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