Variant report

Variant	esv2528950
Chromosome Location	chr6:24074125-24075529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377351951	chr6:24074187-24074188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145072848	chr6:24074214-24074215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567168217	chr6:24074259-24074260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369103384	chr6:24074281-24074282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576340467	chr6:24074295-24074296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115039685	chr6:24074312-24074313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561978102	chr6:24074323-24074324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527644187	chr6:24074347-24074348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182463217	chr6:24074438-24074439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527949992	chr6:24074452-24074453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79559185	chr6:24074460-24074461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186629550	chr6:24074544-24074545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549894818	chr6:24074559-24074560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569891483	chr6:24074596-24074597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191785505	chr6:24074622-24074623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535676626	chr6:24074646-24074647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528767541	chr6:24074656-24074657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146784335	chr6:24074671-24074672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11756314	chr6:24074700-24074701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140557374	chr6:24074742-24074743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1277135	chr6:24074771-24074772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs556633215	chr6:24074781-24074782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576813536	chr6:24074788-24074789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1277136	chr6:24074880-24074881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370976252	chr6:24074974-24074975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1277137	chr6:24074977-24074978	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184627723	chr6:24074985-24074986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150363259	chr6:24074995-24074996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116260046	chr6:24075036-24075037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539577245	chr6:24075082-24075083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551325961	chr6:24075094-24075095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138091734	chr6:24075099-24075100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537210051	chr6:24075144-24075145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149500683	chr6:24075147-24075148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566547078	chr6:24075243-24075244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367557768	chr6:24075300-24075301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143121075	chr6:24075316-24075317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563459217	chr6:24075323-24075324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1592334	chr6:24075324-24075325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190289124	chr6:24075361-24075362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138865402	chr6:24075424-24075425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528771918	chr6:24075450-24075451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552086612	chr6:24075466-24075467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192970855	chr6:24075471-24075472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555634957	chr6:24075475-24075476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185194324	chr6:24075518-24075519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556252914	chr6:24075522-24075523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24070200-24078200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:24072800-24079800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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