Variant report

Variant	nsv603183
Chromosome Location	chr6:55828727-55846527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:55845353..55845898-chr6:56157360..56158001,3	MCF-7	breast:
2	chr6:55845084..55846120-chr6:56156878..56158381,9	MCF-7	breast:
3	chr6:55845445..55846395-chr6:55861990..55862829,3	MCF-7	breast:

Extended variants
information (count: 482 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2745745	chr6:55828727-55828728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537689743	chr6:55828735-55828736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146324497	chr6:55828738-55828739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567702679	chr6:55828763-55828764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114354554	chr6:55828797-55828798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192287861	chr6:55828867-55828868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113412070	chr6:55828967-55828968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111475327	chr6:55828989-55828990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544880421	chr6:55829063-55829064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139256451	chr6:55829066-55829067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553034750	chr6:55829218-55829219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566314867	chr6:55829239-55829240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535444913	chr6:55829266-55829267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62405040	chr6:55829290-55829291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181008061	chr6:55829388-55829389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145431549	chr6:55829410-55829411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149218288	chr6:55829411-55829412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184930174	chr6:55829416-55829417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144850003	chr6:55829463-55829464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2843541	chr6:55829499-55829500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552089096	chr6:55829569-55829570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77624413	chr6:55829570-55829571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557550772	chr6:55829579-55829580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147925226	chr6:55829596-55829597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6904423	chr6:55829626-55829627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577520227	chr6:55829633-55829634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368640440	chr6:55829664-55829665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112937751	chr6:55829668-55829669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190119536	chr6:55829720-55829721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559813863	chr6:55829782-55829783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4354151	chr6:55829788-55829789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182434694	chr6:55829808-55829809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528613702	chr6:55829821-55829822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141714026	chr6:55829856-55829857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2009726	chr6:55829863-55829864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188725739	chr6:55829900-55829901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558425446	chr6:55829933-55829934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35798372	chr6:55829937-55829938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575448672	chr6:55829938-55829939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191731256	chr6:55829971-55829972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554715792	chr6:55829981-55829982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146962544	chr6:55830019-55830020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147994972	chr6:55830043-55830044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560325391	chr6:55830060-55830061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576899718	chr6:55830063-55830064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545864474	chr6:55830084-55830085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562350671	chr6:55830093-55830094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531198301	chr6:55830094-55830095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551012032	chr6:55830148-55830149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2397198	chr6:55830151-55830152	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55828400-55833800	Weak transcription	Colon Smooth Muscle	Colon
2	chr6:55828600-55829200	Enhancers	Fetal Lung	lung
3	chr6:55828600-55833400	Weak transcription	Fetal Stomach	stomach
4	chr6:55829200-55833800	Weak transcription	Fetal Lung	lung
5	chr6:55833400-55834200	Enhancers	Fetal Stomach	stomach
6	chr6:55833800-55834000	Enhancers	Colon Smooth Muscle	Colon
7	chr6:55833800-55834800	Enhancers	Fetal Lung	lung
8	chr6:55834000-55834800	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:55834800-55835000	Enhancers	Colon Smooth Muscle	Colon
10	chr6:55835200-55835400	Enhancers	Fetal Heart	heart
11	chr6:55835400-55837000	Weak transcription	Fetal Heart	heart
12	chr6:55837000-55837600	Enhancers	Fetal Heart	heart
13	chr6:55837800-55838600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:55839400-55840000	Enhancers	HUVEC	blood vessel
15	chr6:55840800-55841000	Bivalent Enhancer	Lung	lung
16	chr6:55842400-55844000	Enhancers	Fetal Lung	lung
17	chr6:55843800-55844200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:55844200-55844600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:55844600-55844800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:55844600-55845000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:55844800-55847200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:55845400-55846200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:55845800-55846400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr6:55845800-55846400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:55846000-55846200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:55846000-55846200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:55846000-55846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:55846200-55846400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:55846200-55847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:55846400-55846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:55846400-55847600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr6:55846400-55847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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