Variant report

Variant	esv3336321
Chromosome Location	chr6:24970943-24972311
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530825708	chr6:24970975-24970976	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs442420	chr6:24970997-24970998	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9358809	chr6:24971007-24971008	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs371847	chr6:24971016-24971017	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546750895	chr6:24971046-24971047	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566940459	chr6:24971049-24971050	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186430214	chr6:24971063-24971064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35685833	chr6:24971075-24971076	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150973361	chr6:24971102-24971103	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs392899	chr6:24971114-24971115	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs201702469	chr6:24971123-24971124	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397952852	chr6:24971130-24971131	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200691523	chr6:24971131-24971132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573512293	chr6:24971153-24971154	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111464186	chr6:24971162-24971163	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6900169	chr6:24971228-24971229	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs140831217	chr6:24971236-24971237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557924401	chr6:24971243-24971244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191732941	chr6:24971292-24971293	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs384476	chr6:24971307-24971308	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371468593	chr6:24971336-24971337	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs384245	chr6:24971403-24971404	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368005271	chr6:24971405-24971406	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150106860	chr6:24971410-24971411	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73384104	chr6:24971463-24971464	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544473056	chr6:24971477-24971478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146699582	chr6:24971510-24971511	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529977130	chr6:24971511-24971512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546750597	chr6:24971513-24971514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529360874	chr6:24971566-24971567	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566596359	chr6:24971580-24971581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527941079	chr6:24971606-24971607	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140226074	chr6:24971615-24971616	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9461087	chr6:24971617-24971618	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183090637	chr6:24971652-24971653	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537868893	chr6:24971658-24971659	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9461088	chr6:24971721-24971722	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs114877969	chr6:24971722-24971723	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145272408	chr6:24971727-24971728	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554343887	chr6:24971735-24971736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577408338	chr6:24971776-24971777	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549843759	chr6:24971793-24971794	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117561079	chr6:24971795-24971796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558689486	chr6:24971814-24971815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376878953	chr6:24971894-24971895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185988367	chr6:24971899-24971900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552377100	chr6:24971909-24971910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372326291	chr6:24971913-24971914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544242733	chr6:24971969-24971970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs654285	chr6:24971983-24971984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24950400-24988600	Weak transcription	Dnd41	blood
2	chr6:24952800-24973200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr6:24954400-24980800	Weak transcription	Thymus	Thymus
4	chr6:24961800-24971600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:24962600-24971200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr6:24964600-24971400	Weak transcription	Gastric	stomach
7	chr6:24966600-24976000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr6:24967000-24971000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr6:24968400-24974200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr6:24968600-24971400	Enhancers	Primary B cells from peripheral blood	blood
11	chr6:24968600-24971800	Enhancers	Primary T cells from cord blood	blood
12	chr6:24968600-24972800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:24968800-24971600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:24969200-24980800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:24969400-24980600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:24969600-24974200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:24969800-24974200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:24970200-24974200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:24970400-24972800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:24970600-24971000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:24970600-24971400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:24970800-24972600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:24970800-24973200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr6:24970800-24973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr6:24971000-24971400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr6:24971000-24974200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr6:24971200-24971600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr6:24971400-24971600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr6:24971400-24971600	Enhancers	Gastric	stomach
30	chr6:24971400-24971800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:24971400-24974000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:24971600-24972400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:24971600-24972600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:24971600-24974200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:24971600-24974400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr6:24971800-24974200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:24971800-24974800	Weak transcription	Primary T cells from cord blood	blood

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