Variant report

Variant	nsv603184
Chromosome Location	chr6:55829863-55836618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 217 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2009726	chr6:55829863-55829864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188725739	chr6:55829900-55829901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558425446	chr6:55829933-55829934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35798372	chr6:55829937-55829938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575448672	chr6:55829938-55829939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191731256	chr6:55829971-55829972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554715792	chr6:55829981-55829982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146962544	chr6:55830019-55830020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147994972	chr6:55830043-55830044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560325391	chr6:55830060-55830061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576899718	chr6:55830063-55830064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545864474	chr6:55830084-55830085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562350671	chr6:55830093-55830094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531198301	chr6:55830094-55830095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551012032	chr6:55830148-55830149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2397198	chr6:55830151-55830152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116567912	chr6:55830155-55830156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61248091	chr6:55830219-55830220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114952413	chr6:55830282-55830283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550470955	chr6:55830345-55830346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9464314	chr6:55830435-55830436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150085290	chr6:55830483-55830484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56010711	chr6:55830524-55830525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs138664075	chr6:55830525-55830526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56665058	chr6:55830576-55830577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574561359	chr6:55830595-55830596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78166335	chr6:55830634-55830635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183573985	chr6:55830726-55830727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576968553	chr6:55830773-55830774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545927816	chr6:55830826-55830827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146262614	chr6:55830831-55830832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369558350	chr6:55830835-55830836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547207656	chr6:55830836-55830837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544872404	chr6:55830870-55830871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138049881	chr6:55830992-55830993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566543861	chr6:55831019-55831020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530227426	chr6:55831043-55831044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142513934	chr6:55831085-55831086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560322337	chr6:55831086-55831087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535222819	chr6:55831116-55831117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78044634	chr6:55831119-55831120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74738911	chr6:55831120-55831121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs80174687	chr6:55831121-55831122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548957248	chr6:55831143-55831144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188959012	chr6:55831173-55831174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552412468	chr6:55831176-55831177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35456321	chr6:55831179-55831180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35923695	chr6:55831181-55831182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569215467	chr6:55831203-55831204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537696971	chr6:55831298-55831299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
3	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
4	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
5	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
6	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
7	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
9	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
10	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart

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