Variant report

Variant	esv3396357
Chromosome Location	chr4:81421778-81423776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556380947	chr4:81421829-81421830	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1845693	chr4:81421861-81421862	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs559485415	chr4:81421877-81421878	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555816188	chr4:81421879-81421880	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558341858	chr4:81421935-81421936	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572750020	chr4:81421954-81421955	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76135089	chr4:81422004-81422005	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141026842	chr4:81422038-81422039	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375182523	chr4:81422061-81422062	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181051414	chr4:81422103-81422104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150222351	chr4:81422135-81422136	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550196455	chr4:81422264-81422265	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563214000	chr4:81422286-81422287	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528988367	chr4:81422320-81422321	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6848986	chr4:81422340-81422341	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558942646	chr4:81422407-81422408	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528320316	chr4:81422440-81422441	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs145738370	chr4:81422492-81422493	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571555620	chr4:81422549-81422550	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs530599132	chr4:81422647-81422648	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550788398	chr4:81422677-81422678	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs201882948	chr4:81422696-81422697	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570132951	chr4:81422700-81422701	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375991781	chr4:81422715-81422716	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs72874056	chr4:81422740-81422741	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs555752621	chr4:81422784-81422785	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185891705	chr4:81422822-81422823	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs62303533	chr4:81422824-81422825	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs11731831	chr4:81422901-81422902	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147696540	chr4:81422986-81422987	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11099253	chr4:81422991-81422992	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs11735660	chr4:81423004-81423005	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543637177	chr4:81423007-81423008	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs80076744	chr4:81423008-81423009	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573374411	chr4:81423030-81423031	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs11735665	chr4:81423038-81423039	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542315880	chr4:81423132-81423133	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs558881054	chr4:81423157-81423158	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148938828	chr4:81423161-81423162	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs368719272	chr4:81423168-81423169	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372921069	chr4:81423180-81423181	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545017955	chr4:81423193-81423194	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs565021099	chr4:81423201-81423202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571153009	chr4:81423221-81423222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181127782	chr4:81423275-81423276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186177028	chr4:81423352-81423353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561067109	chr4:81423359-81423360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79157188	chr4:81423434-81423435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190746485	chr4:81423506-81423507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556963772	chr4:81423519-81423520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81407600-81421800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:81417600-81428800	Weak transcription	NHDF-Ad	bronchial
3	chr4:81418000-81422600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:81418400-81422000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:81419200-81424200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:81419400-81422600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:81420200-81424200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr4:81420200-81424600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:81420400-81424000	Enhancers	Primary T cells from cord blood	blood
10	chr4:81420400-81424000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:81420600-81422400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr4:81420800-81422400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:81420800-81424600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:81421200-81421800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:81421200-81422000	Enhancers	Primary B cells from cord blood	blood
16	chr4:81421200-81422000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr4:81421200-81422000	Enhancers	HMEC	breast
18	chr4:81421200-81422200	Enhancers	Primary B cells from peripheral blood	blood
19	chr4:81421200-81422200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:81421200-81422400	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:81421200-81422400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:81421200-81422400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:81421200-81422400	Enhancers	Dnd41	blood
24	chr4:81421200-81423600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:81421400-81422400	Enhancers	HSMM	muscle
26	chr4:81421400-81422600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:81421400-81423600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:81421600-81422400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr4:81421800-81422000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:81421800-81422200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:81421800-81423600	Enhancers	Osteobl	bone
32	chr4:81422000-81422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:81422000-81422200	Flanking Active TSS	HMEC	breast
34	chr4:81422200-81422600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:81422200-81423200	Active TSS	HMEC	breast
36	chr4:81422400-81422600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr4:81422400-81423400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr4:81422400-81423400	Weak transcription	HSMM	muscle
39	chr4:81422400-81429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:81422600-81423000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:81422600-81423000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr4:81422600-81423000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:81422600-81423000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:81423000-81423200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:81423000-81424200	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:81423000-81424200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr4:81423000-81424400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr4:81423200-81424000	Enhancers	HMEC	breast
49	chr4:81423200-81428800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:81423400-81424200	Enhancers	HSMM	muscle

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