Variant report

Variant	esv2756126
Chromosome Location	chr5:15700541-15720478
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	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000239039	chromatin interactions
ENSG00000129696	chromatin interactions

Extended variants
information (count: 746 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:746 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11133822	chr5:15700541-15700542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs367763348	chr5:15700551-15700552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17523929	chr5:15700585-15700586	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576520994	chr5:15700597-15700598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543982331	chr5:15700622-15700623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188607536	chr5:15700626-15700627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191519249	chr5:15700647-15700648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11133823	chr5:15700655-15700656	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75130428	chr5:15700677-15700678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561548215	chr5:15700696-15700697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564109472	chr5:15700704-15700705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528114999	chr5:15700786-15700787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528822473	chr5:15700856-15700857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541731333	chr5:15700862-15700863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547014003	chr5:15700878-15700879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376889225	chr5:15701004-15701005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201292902	chr5:15701051-15701052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560117888	chr5:15701078-15701079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558551328	chr5:15701084-15701085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565316330	chr5:15701096-15701097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532594534	chr5:15701110-15701111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550797568	chr5:15701198-15701199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569001064	chr5:15701247-15701248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536046061	chr5:15701249-15701250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150366089	chr5:15701312-15701313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566429208	chr5:15701329-15701330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183977041	chr5:15701379-15701380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558090981	chr5:15701420-15701421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576767132	chr5:15701473-15701474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530280503	chr5:15701492-15701493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145096296	chr5:15701582-15701583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530439634	chr5:15701594-15701595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548757833	chr5:15701678-15701679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570156888	chr5:15701712-15701713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531029871	chr5:15701714-15701715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189095393	chr5:15701724-15701725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75492357	chr5:15701729-15701730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561512040	chr5:15701752-15701753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573564939	chr5:15701777-15701778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540934811	chr5:15701804-15701805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552430873	chr5:15701840-15701841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565229454	chr5:15701954-15701955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371247239	chr5:15701967-15701968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375597555	chr5:15701983-15701984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181672889	chr5:15701985-15701986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141007914	chr5:15701992-15701993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185794815	chr5:15702038-15702039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563131130	chr5:15702056-15702057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144824639	chr5:15702064-15702065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567978435	chr5:15702100-15702101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15688400-15704200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15693200-15701000	Enhancers	Fetal Heart	heart
3	chr5:15694400-15702000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:15694400-15704000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:15694600-15704000	Weak transcription	Right Ventricle	heart
6	chr5:15694600-15710200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:15695600-15702200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:15695600-15704000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:15695600-15706400	Weak transcription	Left Ventricle	heart
10	chr5:15695800-15704000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:15695800-15704000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:15695800-15708000	Weak transcription	Brain Angular Gyrus	brain
13	chr5:15696000-15701400	Weak transcription	Adipose Nuclei	Adipose
14	chr5:15696000-15702000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:15696000-15702000	Weak transcription	Osteobl	bone
16	chr5:15696000-15702400	Weak transcription	HSMMtube	muscle
17	chr5:15696000-15704200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:15696200-15701200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:15696200-15702000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:15696200-15704000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:15696200-15704200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:15696200-15704200	Weak transcription	NHLF	lung
23	chr5:15696400-15700600	Weak transcription	NHDF-Ad	bronchial
24	chr5:15696400-15701200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:15698600-15704800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:15699000-15700800	Enhancers	Brain Substantia Nigra	brain
27	chr5:15699600-15702000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:15699600-15704000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:15699800-15700600	Enhancers	Brain Hippocampus Middle	brain
30	chr5:15700000-15700600	Enhancers	Colon Smooth Muscle	Colon
31	chr5:15700200-15700600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:15700200-15700800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:15700400-15700800	Enhancers	Brain Germinal Matrix	brain
34	chr5:15700400-15701400	Enhancers	Fetal Lung	lung
35	chr5:15700400-15701400	Enhancers	Ovary	ovary
36	chr5:15700400-15703000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:15700400-15715600	Weak transcription	Fetal Stomach	stomach
38	chr5:15700600-15703200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:15700600-15704400	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:15700600-15705600	Enhancers	NHDF-Ad	bronchial
41	chr5:15700600-15708400	Weak transcription	Brain Hippocampus Middle	brain
42	chr5:15700800-15704000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:15700800-15704000	Weak transcription	Brain Substantia Nigra	brain
44	chr5:15701000-15704000	Weak transcription	Fetal Heart	heart
45	chr5:15701200-15702600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:15701200-15705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:15701400-15701600	Enhancers	Adipose Nuclei	Adipose
48	chr5:15701400-15704000	Weak transcription	Ovary	ovary
49	chr5:15701400-15705400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr5:15701400-15718200	Weak transcription	Fetal Lung	lung

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