Variant report

Variant	esv3395099
Chromosome Location	chr4:47043545-47045643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144670398	chr4:47043573-47043574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369253022	chr4:47043588-47043589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116595385	chr4:47043653-47043654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571104817	chr4:47043683-47043684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560200347	chr4:47043698-47043699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549858845	chr4:47043871-47043872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369810694	chr4:47043872-47043873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567919138	chr4:47043874-47043875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527444877	chr4:47043891-47043892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182107220	chr4:47043901-47043902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138245030	chr4:47043919-47043920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551737464	chr4:47043988-47043989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187186851	chr4:47043994-47043995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143055876	chr4:47044029-47044030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7356295	chr4:47044039-47044040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575870908	chr4:47044056-47044057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544337201	chr4:47044079-47044080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28429202	chr4:47044088-47044089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146165159	chr4:47044105-47044106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183597989	chr4:47044128-47044129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188645581	chr4:47044162-47044163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560505989	chr4:47044178-47044179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191321583	chr4:47044215-47044216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538119683	chr4:47044241-47044242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550075937	chr4:47044304-47044305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182732746	chr4:47044357-47044358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36224148	chr4:47044391-47044392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35256669	chr4:47044393-47044394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200262552	chr4:47044396-47044397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111785566	chr4:47044397-47044398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113847373	chr4:47044398-47044399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112673248	chr4:47044410-47044411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377169906	chr4:47044413-47044414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369030962	chr4:47044417-47044418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56196035	chr4:47044418-47044419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564628542	chr4:47044423-47044424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377133131	chr4:47044432-47044433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575668241	chr4:47044457-47044458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369535271	chr4:47044458-47044459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35356237	chr4:47044461-47044462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187066087	chr4:47044463-47044464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200198839	chr4:47044468-47044469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531935564	chr4:47044477-47044478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367942607	chr4:47044482-47044483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568161415	chr4:47044483-47044484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535228631	chr4:47044494-47044495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191445454	chr4:47044520-47044521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536048779	chr4:47044535-47044536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550867281	chr4:47044542-47044543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557641204	chr4:47044548-47044549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47036200-47050200	Weak transcription	Brain Anterior Caudate	brain
2	chr4:47043400-47043600	Enhancers	Brain Angular Gyrus	brain

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