Variant report

Variant	esv2757106
Chromosome Location	chr5:15309984-15333853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:15315961..15316543-chr5:15329585..15330403,2	MCF-7	breast:
2	chr5:15315961..15316543-chr5:15329585..15330403,2	MCF-7	breast:
3	chr16:69396659..69398760-chr5:15310573..15313543,2	MCF-7	breast:

Extended variants
information (count: 613 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6898871	chr5:15317426-15317427	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6899293	chr5:15317509-15317510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78331669	chr5:15317525-15317526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551592650	chr5:15317530-15317531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569891846	chr5:15317539-15317540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530567961	chr5:15317548-15317549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548661010	chr5:15317673-15317674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566933432	chr5:15317734-15317735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6859257	chr5:15317754-15317755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553257449	chr5:15317787-15317788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571419770	chr5:15317805-15317806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6859415	chr5:15317828-15317829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184831149	chr5:15317872-15317873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114523864	chr5:15317886-15317887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113650858	chr5:15317893-15317894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543942401	chr5:15317895-15317896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77829647	chr5:15317898-15317899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573999306	chr5:15317937-15317938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6880827	chr5:15317947-15317948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559683876	chr5:15317950-15317951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533483671	chr5:15317951-15317952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545293790	chr5:15317976-15317977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188035878	chr5:15317980-15317981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376145146	chr5:15318011-15318012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563580885	chr5:15318012-15318013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530970340	chr5:15318129-15318130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142992529	chr5:15318135-15318136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567223759	chr5:15318155-15318156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34017913	chr5:15318243-15318244	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191392626	chr5:15318261-15318262	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546315785	chr5:15318312-15318313	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571203369	chr5:15318324-15318325	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575300133	chr5:15318348-15318349	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6864601	chr5:15318376-15318377	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557249127	chr5:15318394-15318395	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183964310	chr5:15318399-15318400	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536420900	chr5:15318422-15318423	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555912169	chr5:15318433-15318434	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574084209	chr5:15318445-15318446	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77204541	chr5:15318464-15318465	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541492948	chr5:15318641-15318642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553138193	chr5:15318682-15318683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577961553	chr5:15318784-15318785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6886201	chr5:15318801-15318802	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs563594908	chr5:15318832-15318833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs303339	chr5:15318857-15318858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542780532	chr5:15318939-15318940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561519276	chr5:15318972-15318973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs113351747	chr5:15319014-15319015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528204532	chr5:15319020-15319021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15317400-15319400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:15318200-15318600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:15318600-15319000	Enhancers	Fetal Heart	heart
4	chr5:15319000-15321000	Weak transcription	Fetal Heart	heart
5	chr5:15319400-15320000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:15320000-15321000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:15320200-15321200	Enhancers	Brain Anterior Caudate	brain
8	chr5:15320200-15321400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:15320200-15321600	Enhancers	Brain Hippocampus Middle	brain
10	chr5:15320800-15321200	Enhancers	Brain Germinal Matrix	brain
11	chr5:15320800-15321200	Enhancers	Colon Smooth Muscle	Colon
12	chr5:15320800-15321400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:15320800-15321600	Enhancers	Brain Substantia Nigra	brain
14	chr5:15320800-15323000	Enhancers	Fetal Brain Male	brain
15	chr5:15321000-15321400	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:15321000-15321400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr5:15321000-15321400	Enhancers	Fetal Heart	heart
18	chr5:15321000-15321400	Enhancers	Fetal Stomach	stomach
19	chr5:15321200-15321400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:15321400-15324000	Weak transcription	Fetal Heart	heart
21	chr5:15322400-15323200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:15322400-15323200	Enhancers	Liver	Liver
23	chr5:15322600-15323200	Enhancers	Fetal Lung	lung
24	chr5:15323200-15326400	Weak transcription	Fetal Lung	lung
25	chr5:15324000-15325800	Enhancers	Fetal Heart	heart
26	chr5:15325800-15327200	Weak transcription	Fetal Heart	heart
27	chr5:15326400-15326800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:15326400-15326800	Enhancers	Aorta	Aorta
29	chr5:15326400-15327400	Enhancers	Fetal Lung	lung
30	chr5:15327200-15327400	Enhancers	Fetal Heart	heart
31	chr5:15327400-15337800	Weak transcription	Fetal Heart	heart
32	chr5:15332000-15335000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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