Variant report

Variant	esv12965
Chromosome Location	chr18:29888294-29889647
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	chr18:29887452..29890348-chr18:30046410..30049276,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375906466	chr18:29888296-29888297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs35134394	chr18:29888323-29888324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539652963	chr18:29888493-29888494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192882983	chr18:29888507-29888508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185424383	chr18:29888508-29888509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187887853	chr18:29888551-29888552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374355600	chr18:29888629-29888630	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs527622316	chr18:29888668-29888669	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs578120136	chr18:29888670-29888671	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs545254532	chr18:29888675-29888676	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552051896	chr18:29888699-29888700	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570681773	chr18:29888701-29888702	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537456843	chr18:29888727-29888728	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549720009	chr18:29888789-29888790	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs140717921	chr18:29888803-29888804	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs79458666	chr18:29888851-29888852	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555240987	chr18:29888895-29888896	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145894893	chr18:29888911-29888912	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534343342	chr18:29888912-29888913	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146436517	chr18:29888966-29888967	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192953910	chr18:29888994-29888995	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183499233	chr18:29889009-29889010	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530675634	chr18:29889059-29889060	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549195147	chr18:29889071-29889072	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574871958	chr18:29889092-29889093	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541912565	chr18:29889093-29889094	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559964214	chr18:29889185-29889186	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188185351	chr18:29889260-29889261	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192298584	chr18:29889270-29889271	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545555979	chr18:29889271-29889272	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371344446	chr18:29889277-29889278	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111471415	chr18:29889307-29889308	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531609299	chr18:29889316-29889317	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549544984	chr18:29889317-29889318	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184685329	chr18:29889333-29889334	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143094375	chr18:29889343-29889344	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547518434	chr18:29889345-29889346	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148226820	chr18:29889346-29889347	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370417289	chr18:29889348-29889349	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559080023	chr18:29889349-29889350	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529370344	chr18:29889394-29889395	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571087390	chr18:29889395-29889396	Enhancers Flanking Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547600003	chr18:29889406-29889407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573481458	chr18:29889422-29889423	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376268843	chr18:29889423-29889424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538516784	chr18:29889431-29889432	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556325575	chr18:29889439-29889440	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190807774	chr18:29889444-29889445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541777462	chr18:29889451-29889452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553861536	chr18:29889521-29889522	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29868000-29888800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr18:29868000-29888800	Weak transcription	Brain Hippocampus Middle	brain
3	chr18:29868000-29889000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:29868000-29889000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr18:29868200-29889800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr18:29868200-29923800	Weak transcription	Gastric	stomach
7	chr18:29878400-29888800	Weak transcription	Liver	Liver
8	chr18:29878400-29890000	Weak transcription	Fetal Kidney	kidney
9	chr18:29878400-29896000	Weak transcription	Brain Anterior Caudate	brain
10	chr18:29878600-29890200	Weak transcription	Brain Angular Gyrus	brain
11	chr18:29878800-29890000	Weak transcription	Fetal Brain Male	brain
12	chr18:29880800-29897000	Weak transcription	Lung	lung
13	chr18:29881600-29892200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr18:29881800-29888800	Weak transcription	Fetal Stomach	stomach
15	chr18:29882200-29888800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr18:29882200-29888800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:29882200-29890000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr18:29882800-29888600	Weak transcription	NH-A	brain
19	chr18:29882800-29888800	Weak transcription	Small Intestine	intestine
20	chr18:29882800-29889000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr18:29882800-29890000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr18:29883000-29888400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr18:29883000-29888800	Weak transcription	HSMMtube	muscle
24	chr18:29883000-29890800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr18:29883000-29891400	Weak transcription	Adipose Nuclei	Adipose
26	chr18:29883000-29891600	Weak transcription	Pancreas	Pancrea
27	chr18:29883000-29895800	Weak transcription	Stomach Mucosa	stomach
28	chr18:29883000-29897000	Weak transcription	Fetal Intestine Small	intestine
29	chr18:29883000-29897000	Weak transcription	Left Ventricle	heart
30	chr18:29883200-29889000	Weak transcription	NHDF-Ad	bronchial
31	chr18:29883400-29889000	Weak transcription	Fetal Muscle Leg	muscle
32	chr18:29883400-29896800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr18:29883800-29888800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:29883800-29888800	Weak transcription	Aorta	Aorta
35	chr18:29883800-29888800	Weak transcription	Right Atrium	heart
36	chr18:29883800-29888800	Weak transcription	Right Ventricle	heart
37	chr18:29883800-29893000	Weak transcription	Fetal Heart	heart
38	chr18:29886400-29889200	Weak transcription	Spleen	Spleen
39	chr18:29886600-29892000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr18:29887400-29890200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr18:29888000-29888600	Enhancers	HMEC	breast
42	chr18:29888000-29888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr18:29888000-29889400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr18:29888000-29891200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:29888200-29888600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr18:29888200-29888600	Enhancers	NHEK	skin
47	chr18:29888200-29889000	Enhancers	HSMM	muscle
48	chr18:29888200-29889400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:29888200-29889400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:29888200-29890400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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