Variant report

Variant	nsv967290
Chromosome Location	chr4:47085214-47095748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47072725..47074319-chr4:47086476..47088590,2	K562	blood:
2	chr4:47090523..47092982-chr4:47093713..47096101,2	K562	blood:
3	chr4:47090523..47092982-chr4:47093713..47096101,2	K562	blood:

Extended variants
information (count: 425 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564896676	chr4:47085255-47085256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148369147	chr4:47085296-47085297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573290459	chr4:47085308-47085309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542728168	chr4:47085312-47085313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4645195	chr4:47085317-47085318	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572780426	chr4:47085354-47085355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140619048	chr4:47085355-47085356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564792370	chr4:47085365-47085366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564972593	chr4:47085393-47085394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555294222	chr4:47085409-47085410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575360867	chr4:47085423-47085424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191035431	chr4:47085433-47085434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550327487	chr4:47085436-47085437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562365929	chr4:47085458-47085459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182373359	chr4:47085504-47085505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544586877	chr4:47085572-47085573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189209938	chr4:47085627-47085628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567697340	chr4:47085633-47085634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535011935	chr4:47085634-47085635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs193096327	chr4:47085653-47085654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571926402	chr4:47085656-47085657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377471262	chr4:47085688-47085689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371089183	chr4:47085714-47085715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112865972	chr4:47085780-47085781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533044355	chr4:47085786-47085787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533259641	chr4:47085829-47085830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182991806	chr4:47085841-47085842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374137550	chr4:47085846-47085847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554646655	chr4:47085877-47085878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187319221	chr4:47085882-47085883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191951215	chr4:47085893-47085894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184070398	chr4:47085894-47085895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377562523	chr4:47085907-47085908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138509266	chr4:47085908-47085909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544082224	chr4:47085924-47085925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370506707	chr4:47085934-47085935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143515491	chr4:47086011-47086012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529891664	chr4:47086063-47086064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189389870	chr4:47086072-47086073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548128878	chr4:47086103-47086104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147156131	chr4:47086111-47086112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138727168	chr4:47086118-47086119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192735472	chr4:47086137-47086138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571690169	chr4:47086174-47086175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76009127	chr4:47086257-47086258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77826379	chr4:47086258-47086259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149238210	chr4:47086280-47086281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377624812	chr4:47086301-47086302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144451252	chr4:47086316-47086317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530739975	chr4:47086368-47086369	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47071800-47086600	Weak transcription	Fetal Lung	lung
2	chr4:47079000-47090200	Weak transcription	Brain Substantia Nigra	brain
3	chr4:47079200-47090400	Weak transcription	Brain Angular Gyrus	brain
4	chr4:47086600-47088000	Enhancers	Fetal Lung	lung
5	chr4:47087600-47088000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:47087800-47088000	Enhancers	Brain Anterior Caudate	brain
7	chr4:47088000-47090200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:47088000-47090400	Weak transcription	Brain Anterior Caudate	brain
9	chr4:47088800-47089200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:47088800-47089200	Enhancers	NHEK	skin
11	chr4:47089000-47090600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:47089600-47090600	Enhancers	Osteobl	bone
13	chr4:47090200-47090800	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:47090200-47091000	Enhancers	Brain Hippocampus Middle	brain
15	chr4:47090200-47091000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr4:47090200-47091000	Enhancers	Brain Substantia Nigra	brain
17	chr4:47090400-47091000	Enhancers	Brain Angular Gyrus	brain
18	chr4:47090400-47091400	Enhancers	Brain Anterior Caudate	brain
19	chr4:47090400-47091600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:47090600-47091200	Enhancers	Brain Germinal Matrix	brain
21	chr4:47091000-47100400	Weak transcription	Brain Angular Gyrus	brain
22	chr4:47091400-47093600	Weak transcription	Brain Anterior Caudate	brain
23	chr4:47091600-47095000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:47093600-47093800	Enhancers	Brain Anterior Caudate	brain

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