Variant report

Variant	esv3426396
Chromosome Location	chr5:16517402-16519400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16515644..16518181-chr5:16520879..16523096,2	K562	blood:
2	chr5:16515644..16517588-chr5:16520879..16522535,2	K562	blood:
3	chr5:16511492..16513352-chr5:16516670..16518535,2	MCF-7	breast:
4	chr5:16498229..16500270-chr5:16516001..16517832,2	K562	blood:
5	chr5:16517107..16520013-chr5:16530659..16532306,2	MCF-7	breast:
6	chr5:16515851..16518543-chr5:16577137..16579059,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62369712	chr5:16517476-16517477	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538934309	chr5:16517498-16517499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577817356	chr5:16517501-16517502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146780754	chr5:16517525-16517526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140561288	chr5:16517551-16517552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544656708	chr5:16517598-16517599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536075390	chr5:16517650-16517651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560806749	chr5:16517675-16517676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554208677	chr5:16517693-16517694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572915222	chr5:16517694-16517695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186726871	chr5:16517698-16517699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564903508	chr5:16517703-16517704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75483788	chr5:16517738-16517739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545709747	chr5:16517745-16517746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376349916	chr5:16517753-16517754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143474346	chr5:16517755-16517756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531113914	chr5:16517760-16517761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568843535	chr5:16517813-16517814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62369713	chr5:16517823-16517824	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs561199911	chr5:16517850-16517851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10064821	chr5:16517905-16517906	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35949668	chr5:16517934-16517935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549845897	chr5:16517983-16517984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151211575	chr5:16518074-16518075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571605812	chr5:16518114-16518115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114254107	chr5:16518194-16518195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550444168	chr5:16518217-16518218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2596382	chr5:16518219-16518220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545594465	chr5:16518352-16518353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536010695	chr5:16518399-16518400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554750668	chr5:16518415-16518416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140404418	chr5:16518466-16518467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563983979	chr5:16518469-16518470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62369714	chr5:16518479-16518480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs558413472	chr5:16518505-16518506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372928251	chr5:16518546-16518547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191390510	chr5:16518551-16518552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183577006	chr5:16518560-16518561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563939519	chr5:16518581-16518582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76408223	chr5:16518588-16518589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576031854	chr5:16518648-16518649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62369715	chr5:16518649-16518650	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547435543	chr5:16518672-16518673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13174423	chr5:16518689-16518690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117342391	chr5:16518694-16518695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528720806	chr5:16518755-16518756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79273724	chr5:16518861-16518862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188694151	chr5:16518938-16518939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12516387	chr5:16518951-16518952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539719329	chr5:16518973-16518974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16509200-16524200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:16509600-16528800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:16509800-16521000	Weak transcription	Fetal Heart	heart
4	chr5:16511200-16519200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:16511600-16522000	Weak transcription	Primary T cells from cord blood	blood
6	chr5:16511800-16519000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:16512000-16519000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:16513200-16519200	Weak transcription	Left Ventricle	heart
9	chr5:16513200-16519800	Weak transcription	Right Ventricle	heart
10	chr5:16515600-16519200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr5:16515800-16518800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:16516000-16518000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr5:16516000-16519000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:16516000-16519600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr5:16517000-16518400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr5:16517400-16518600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:16518000-16519000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr5:16518400-16519200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:16518400-16520000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr5:16518600-16519600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:16518800-16519400	Enhancers	HSMMtube	muscle
23	chr5:16518800-16519400	Enhancers	NHDF-Ad	bronchial
24	chr5:16518800-16520200	Enhancers	Brain Angular Gyrus	brain
25	chr5:16519000-16519200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr5:16519000-16519400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr5:16519000-16519800	Enhancers	Fetal Intestine Small	intestine
28	chr5:16519000-16520200	Enhancers	Brain Substantia Nigra	brain
29	chr5:16519200-16519600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:16519200-16520200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:16519200-16520400	Enhancers	Left Ventricle	heart
32	chr5:16519200-16521200	Enhancers	Fetal Intestine Large	intestine
33	chr5:16519400-16519800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:16519400-16521400	Enhancers	Pancreas	Pancrea
35	chr5:16519400-16523200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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