Variant report

Variant	esv19391
Chromosome Location	chr3:69881179-69884045
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	chr3:69880455..69881274-chr9:90001254..90001794,2	MCF-7	breast:
2	chr3:69879804..69881534-chr3:69885373..69887297,2	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79658882	chr3:69881186-69881187	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144637254	chr3:69881187-69881188	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188356495	chr3:69881197-69881198	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9824528	chr3:69881218-69881219	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138460881	chr3:69881255-69881256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9880541	chr3:69881273-69881274	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149396923	chr3:69881305-69881306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546999910	chr3:69881333-69881334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566982463	chr3:69881349-69881350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575526372	chr3:69881368-69881369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111596507	chr3:69881405-69881406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs62252182	chr3:69881433-69881434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs180871925	chr3:69881440-69881441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568964508	chr3:69881469-69881470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183757646	chr3:69881473-69881474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9828924	chr3:69881523-69881524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9825023	chr3:69881536-69881537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs9829056	chr3:69881567-69881568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9881217	chr3:69881726-69881727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112012655	chr3:69881770-69881771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532652041	chr3:69881802-69881803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs386662131	chr3:69881840-69881841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115218797	chr3:69881841-69881842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34162170	chr3:69881853-69881854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs62252216	chr3:69881906-69881907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556183646	chr3:69881916-69881917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575753674	chr3:69881965-69881966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189147277	chr3:69881980-69881981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143773520	chr3:69881989-69881990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530394156	chr3:69881997-69881998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182487966	chr3:69882057-69882058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187142458	chr3:69882072-69882073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191952645	chr3:69882081-69882082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560275246	chr3:69882090-69882091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532494064	chr3:69882098-69882099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552391737	chr3:69882099-69882100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569308789	chr3:69882113-69882114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531420686	chr3:69882114-69882115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547967985	chr3:69882133-69882134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568043136	chr3:69882137-69882138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148150167	chr3:69882177-69882178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372568088	chr3:69882195-69882196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570361913	chr3:69882207-69882208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144074161	chr3:69882219-69882220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556000506	chr3:69882263-69882264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576188984	chr3:69882277-69882278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538467338	chr3:69882281-69882282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555197693	chr3:69882295-69882296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575246855	chr3:69882306-69882307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540935097	chr3:69882308-69882309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Prostate cancer	17217626	CNVD
Urothelial cell carcinoma	18451213	CNVD
Alzheimer''s disease	22166940	CNVD
Mental retardation	20848658	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Malignant glioma	16001072	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69870200-69886000	Weak transcription	Aorta	Aorta
2	chr3:69870600-69886200	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:69873800-69887600	Weak transcription	NHLF	lung
4	chr3:69876400-69881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:69879400-69881800	Weak transcription	Fetal Heart	heart
6	chr3:69879600-69884200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:69879600-69886000	Weak transcription	Right Atrium	heart
8	chr3:69879600-69886000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:69881000-69881200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:69881000-69881200	Genic enhancers	Ovary	ovary
11	chr3:69881000-69881200	Enhancers	Pancreas	Pancrea
12	chr3:69881000-69881200	Enhancers	K562	blood
13	chr3:69881000-69881400	Enhancers	Brain Hippocampus Middle	brain
14	chr3:69881000-69881400	Enhancers	Left Ventricle	heart
15	chr3:69881000-69881600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:69881000-69881600	Enhancers	Psoas Muscle	Psoas
17	chr3:69881000-69881600	Enhancers	Right Ventricle	heart
18	chr3:69881200-69881400	Enhancers	Ovary	ovary
19	chr3:69881200-69886200	Weak transcription	K562	blood
20	chr3:69881400-69886000	Weak transcription	Left Ventricle	heart
21	chr3:69881400-69886000	Weak transcription	Ovary	ovary
22	chr3:69881600-69885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr3:69881600-69886000	Weak transcription	Right Ventricle	heart
24	chr3:69881800-69882200	Enhancers	Fetal Heart	heart

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