Variant report

Variant	esv3414191
Chromosome Location	chr4:19057337-19058096
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115836887	chr4:19057349-19057350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78078010	chr4:19057390-19057391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547046831	chr4:19057396-19057397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16898039	chr4:19057409-19057410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2159972	chr4:19057430-19057431	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs149065866	chr4:19057447-19057448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543238035	chr4:19057460-19057461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200244274	chr4:19057468-19057469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375563592	chr4:19057500-19057501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561300174	chr4:19057524-19057525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs207333	chr4:19057526-19057527	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540735333	chr4:19057530-19057531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558932401	chr4:19057552-19057553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367661059	chr4:19057563-19057564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550957770	chr4:19057579-19057580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145851698	chr4:19057629-19057630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35266574	chr4:19057640-19057641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530700707	chr4:19057655-19057656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549188622	chr4:19057672-19057673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138686098	chr4:19057686-19057687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142691218	chr4:19057696-19057697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73112349	chr4:19057740-19057741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189169227	chr4:19057756-19057757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16898040	chr4:19057763-19057764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534147950	chr4:19057822-19057823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182413418	chr4:19057843-19057844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557375553	chr4:19057850-19057851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141553383	chr4:19057854-19057855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16898041	chr4:19057859-19057860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150881785	chr4:19057867-19057868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553899526	chr4:19057879-19057880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62297864	chr4:19057895-19057896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139343782	chr4:19057926-19057927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577308015	chr4:19057931-19057932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374869721	chr4:19057969-19057970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144324707	chr4:19058038-19058039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111290027	chr4:19058039-19058040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146089012	chr4:19058079-19058080	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19056200-19057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:19056400-19057400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:19057200-19057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:19057600-19058000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:19058000-19058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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