Variant report

Variant	esv3327506
Chromosome Location	chr5:49940145-49943093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs188148651	chr5:49940196-49940197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35826255	chr5:49940273-49940274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557354146	chr5:49940279-49940280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369348411	chr5:49940299-49940300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536442250	chr5:49940305-49940306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114438013	chr5:49940319-49940320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572566232	chr5:49940320-49940321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544622565	chr5:49940346-49940347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192708171	chr5:49940452-49940453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147994768	chr5:49940496-49940497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200467771	chr5:49940516-49940517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183616735	chr5:49940530-49940531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12653803	chr5:49940561-49940562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs529962716	chr5:49940582-49940583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540388155	chr5:49940599-49940600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559901708	chr5:49940600-49940601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528567572	chr5:49940618-49940619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188327039	chr5:49940621-49940622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571646708	chr5:49940659-49940660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72753742	chr5:49940710-49940711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs554896860	chr5:49940758-49940759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13159764	chr5:49940840-49940841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs567814357	chr5:49940871-49940872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199821817	chr5:49940883-49940884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34139771	chr5:49940884-49940885	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs553119328	chr5:49940895-49940896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566253941	chr5:49940934-49940935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538377563	chr5:49940947-49940948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192426824	chr5:49941000-49941001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185018047	chr5:49941015-49941016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190178207	chr5:49941019-49941020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181878818	chr5:49941023-49941024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375328918	chr5:49941024-49941025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184862350	chr5:49941026-49941027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189373847	chr5:49941031-49941032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181227532	chr5:49941050-49941051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368142208	chr5:49941051-49941052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372363197	chr5:49941052-49941053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34336048	chr5:49941057-49941058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35117122	chr5:49941059-49941060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36086683	chr5:49941061-49941062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184935937	chr5:49941082-49941083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376580426	chr5:49941134-49941135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369838640	chr5:49941135-49941136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189808940	chr5:49941141-49941142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372703648	chr5:49941163-49941164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181819924	chr5:49941164-49941165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375895248	chr5:49941192-49941193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187364645	chr5:49941201-49941202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368820322	chr5:49941218-49941219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49933800-49942400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:49934200-49943800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr5:49939200-49942400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:49939400-49942400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:49939400-49942400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr5:49942400-49942600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr5:49942400-49943000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr5:49942400-49943600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:49942400-49943600	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:49942400-49944400	Enhancers	Primary B cells from cord blood	blood
11	chr5:49942400-49946000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:49942600-49944000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:49942600-49945000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr5:49943000-49943400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:49943000-49943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:49943000-49944400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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