Variant report

Variant	esv3341312
Chromosome Location	chr18:44053354-44057552
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	chr18:44047554..44050412-chr18:44054190..44057123,2	MCF-7	breast:
2	chr18:43855454..43855969-chr18:44053298..44053822,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs545521422	chr18:44053392-44053393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536181378	chr18:44053407-44053408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527723196	chr18:44053409-44053410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577037729	chr18:44053421-44053422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549089882	chr18:44053423-44053424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549144375	chr18:44053555-44053556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147412863	chr18:44053556-44053557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189559195	chr18:44053605-44053606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183246364	chr18:44053621-44053622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114071563	chr18:44053622-44053623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565975127	chr18:44053645-44053646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117420117	chr18:44053675-44053676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538402278	chr18:44053714-44053715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112264771	chr18:44053787-44053788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79975623	chr18:44053791-44053792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62095759	chr18:44053868-44053869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375020413	chr18:44053889-44053890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565631254	chr18:44053894-44053895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536279646	chr18:44053937-44053938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576894445	chr18:44053990-44053991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576501663	chr18:44054029-44054030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149916228	chr18:44054040-44054041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144892670	chr18:44054047-44054048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187728302	chr18:44054072-44054073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556847006	chr18:44054116-44054117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578236380	chr18:44054118-44054119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17365911	chr18:44054131-44054132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545607177	chr18:44054181-44054182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539031010	chr18:44054202-44054203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192970486	chr18:44054287-44054288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543077427	chr18:44054298-44054299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561144658	chr18:44054300-44054301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8089881	chr18:44054342-44054343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs367704820	chr18:44054343-44054344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs8088763	chr18:44054347-44054348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149020932	chr18:44054372-44054373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577686	chr18:44054396-44054397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576238414	chr18:44054455-44054456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542156188	chr18:44054514-44054515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185191445	chr18:44054563-44054564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549669382	chr18:44054588-44054589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188259765	chr18:44054592-44054593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564836199	chr18:44054599-44054600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527921417	chr18:44054614-44054615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555589690	chr18:44054629-44054630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375263609	chr18:44054638-44054639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78622135	chr18:44054683-44054684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143176223	chr18:44054685-44054686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565796474	chr18:44054734-44054735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76459870	chr18:44054826-44054827	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	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
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	21569311	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44040000-44053400	Weak transcription	Right Ventricle	heart
2	chr18:44042800-44064600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:44046800-44054800	Weak transcription	Spleen	Spleen
4	chr18:44049600-44054600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:44049800-44054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:44049800-44054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:44050000-44056400	Weak transcription	Fetal Heart	heart
8	chr18:44050200-44054000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr18:44052800-44054800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr18:44053000-44053400	Enhancers	Fetal Brain Male	brain
11	chr18:44053200-44053400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr18:44053400-44053600	Enhancers	Right Ventricle	heart
13	chr18:44053400-44053800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr18:44053600-44054000	Weak transcription	Right Ventricle	heart
15	chr18:44053800-44055200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr18:44054000-44054800	Enhancers	Right Ventricle	heart
17	chr18:44054000-44055600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr18:44054200-44055000	Enhancers	Psoas Muscle	Psoas
19	chr18:44054400-44055400	Enhancers	Fetal Muscle Trunk	muscle
20	chr18:44054600-44055400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr18:44054600-44055400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:44054600-44055600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:44054600-44055600	Enhancers	Fetal Thymus	thymus
24	chr18:44054800-44055200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:44054800-44055400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:44054800-44055400	Enhancers	Thymus	Thymus
27	chr18:44054800-44055400	Enhancers	Spleen	Spleen
28	chr18:44054800-44055600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:44054800-44055600	Enhancers	Dnd41	blood
30	chr18:44054800-44064800	Weak transcription	Right Ventricle	heart
31	chr18:44055000-44055400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr18:44055000-44055800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr18:44055200-44055400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr18:44055200-44055400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr18:44055200-44055400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr18:44055200-44055400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr18:44055200-44055400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr18:44055200-44055600	Enhancers	H9 Cell Line	embryonic stem cell
39	chr18:44055200-44055600	Bivalent Enhancer	Fetal Brain Male	brain
40	chr18:44055400-44055600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:44055400-44055600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:44055400-44055600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:44055400-44059400	Weak transcription	Spleen	Spleen
44	chr18:44055400-44061000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr18:44055600-44055800	Enhancers	Fetal Brain Male	brain
46	chr18:44055600-44057400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr18:44055600-44060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr18:44055600-44061400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr18:44055800-44057000	Weak transcription	Fetal Brain Male	brain
50	chr18:44056400-44057200	Enhancers	Fetal Heart	heart

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