Variant report

Variant	nsv601159
Chromosome Location	chr6:24325627-24329730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24327848..24330728-chr6:24332422..24334175,2	K562	blood:
2	chr6:24329272..24332186-chr6:24354451..24356131,2	MCF-7	breast:

Extended variants
information (count: 177 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1417740	chr6:24325627-24325628	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372418519	chr6:24325633-24325634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368228478	chr6:24325638-24325639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74826230	chr6:24325662-24325663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534487233	chr6:24325663-24325664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554204120	chr6:24325665-24325666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs13191367	chr6:24325680-24325681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181312430	chr6:24325685-24325686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144788122	chr6:24325699-24325700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537914609	chr6:24325700-24325701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148208189	chr6:24325728-24325729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568347955	chr6:24325768-24325769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575398372	chr6:24325787-24325788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556241500	chr6:24325802-24325803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140245048	chr6:24325804-24325805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12211069	chr6:24325883-24325884	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs538623168	chr6:24325906-24325907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546787433	chr6:24325956-24325957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183953595	chr6:24325997-24325998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150294904	chr6:24326025-24326026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552248822	chr6:24326036-24326037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568951544	chr6:24326038-24326039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537949018	chr6:24326067-24326068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548307437	chr6:24326104-24326105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189117853	chr6:24326136-24326137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369308706	chr6:24326208-24326209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544003171	chr6:24326246-24326247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554344200	chr6:24326290-24326291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571015225	chr6:24326297-24326298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540163455	chr6:24326320-24326321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200283757	chr6:24326363-24326364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs71760858	chr6:24326383-24326384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs386698081	chr6:24326385-24326386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374659562	chr6:24326394-24326395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558581575	chr6:24326398-24326399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575339800	chr6:24326399-24326400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112811405	chr6:24326414-24326415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149425020	chr6:24326418-24326419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201247740	chr6:24326421-24326422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377136913	chr6:24326422-24326423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370597196	chr6:24326426-24326427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554669908	chr6:24326437-24326438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574495932	chr6:24326439-24326440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200093480	chr6:24326442-24326443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540008299	chr6:24326445-24326446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576243821	chr6:24326459-24326460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560306358	chr6:24326469-24326470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532296773	chr6:24326475-24326476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545739792	chr6:24326493-24326494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369114024	chr6:24326504-24326505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24316400-24326800	Weak transcription	Pancreas	Pancrea
2	chr6:24324200-24329400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:24324400-24332000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:24324600-24329200	Weak transcription	NHEK	skin
5	chr6:24324600-24330000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:24324600-24332000	Weak transcription	HMEC	breast
7	chr6:24324600-24332200	Weak transcription	HSMMtube	muscle
8	chr6:24324800-24329000	Weak transcription	Fetal Kidney	kidney
9	chr6:24325000-24329000	Weak transcription	NH-A	brain
10	chr6:24325000-24329400	Enhancers	HepG2	liver
11	chr6:24325600-24328200	Weak transcription	A549	lung
12	chr6:24326800-24327400	Enhancers	Pancreas	Pancrea
13	chr6:24327400-24327800	Enhancers	Fetal Brain Female	brain
14	chr6:24327400-24339200	Weak transcription	Pancreas	Pancrea
15	chr6:24327800-24328200	Weak transcription	Fetal Brain Female	brain
16	chr6:24328200-24328800	Enhancers	Fetal Brain Male	brain
17	chr6:24328200-24328800	Enhancers	Fetal Brain Female	brain
18	chr6:24328200-24329000	Enhancers	A549	lung
19	chr6:24329000-24329600	Enhancers	NH-A	brain
20	chr6:24329000-24329800	Enhancers	Fetal Kidney	kidney
21	chr6:24329000-24331000	Flanking Active TSS	A549	lung
22	chr6:24329000-24331200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr6:24329200-24329600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:24329200-24330800	Enhancers	NHEK	skin
25	chr6:24329400-24329600	Flanking Active TSS	HepG2	liver
26	chr6:24329400-24330000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:24329600-24330000	Enhancers	HepG2	liver
28	chr6:24329600-24332200	Weak transcription	NH-A	brain

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