Variant report

Variant	nsv1025078
Chromosome Location	chr6:23753085-23776497
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	chr6:23547784..23548342-chr6:23754161..23755095,2	MCF-7	breast:

Extended variants
information (count: 169 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs538599637	chr6:23753155-23753156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1325015	chr6:23753175-23753176	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs184946596	chr6:23753224-23753225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551977680	chr6:23753243-23753244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190192255	chr6:23753274-23753275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1325014	chr6:23753278-23753279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181101698	chr6:23753284-23753285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186791926	chr6:23753306-23753307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4631271	chr6:23753356-23753357	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370761991	chr6:23753383-23753384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397726139	chr6:23753397-23753398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553080769	chr6:23753404-23753405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192043001	chr6:23753447-23753448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4400210	chr6:23753485-23753486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4331975	chr6:23753489-23753490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9366525	chr6:23753545-23753546	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9366526	chr6:23753582-23753583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186418520	chr6:23756816-23756817	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191223260	chr6:23756825-23756826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530381522	chr6:23756834-23756835	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182493942	chr6:23756838-23756839	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs140468892	chr6:23756860-23756861	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs568989612	chr6:23756888-23756889	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs4530849	chr6:23756890-23756891	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188405056	chr6:23756902-23756903	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs531663013	chr6:23756937-23756938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539939766	chr6:23756948-23756949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114160063	chr6:23756973-23756974	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192585369	chr6:23756976-23756977	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573383359	chr6:23756978-23756979	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537480733	chr6:23756982-23756983	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs9688619	chr6:23757002-23757003	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4620110	chr6:23757031-23757032	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540937797	chr6:23757049-23757050	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553145240	chr6:23757065-23757066	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4355604	chr6:23757079-23757080	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs544704591	chr6:23757084-23757085	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs377110642	chr6:23757085-23757086	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs4337927	chr6:23757086-23757087	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs560703186	chr6:23757111-23757112	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562524327	chr6:23757118-23757119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182959328	chr6:23757121-23757122	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs71002413	chr6:23757135-23757136	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs386698039	chr6:23757136-23757137	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs146561189	chr6:23757144-23757145	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9689043	chr6:23757147-23757148	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs370994472	chr6:23757152-23757153	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs116207838	chr6:23757183-23757184	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs75420092	chr6:23757193-23757194	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs141095189	chr6:23757194-23757195	Active TSS	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
Ovarian cancer	21720365	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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:23752800-23753600	Enhancers	Fetal Kidney	kidney
2	chr6:23756800-23757400	Active TSS	Fetal Heart	heart
3	chr6:23774000-23774600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:23774600-23774800	Enhancers	Rectal Smooth Muscle	rectum
5	chr6:23774600-23775000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr6:23774600-23775600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:23775200-23775800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:23775400-23775600	Enhancers	Rectal Smooth Muscle	rectum

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