Variant report

Variant	esv3377852
Chromosome Location	chr3:25016997-25034543
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	chr3:25032348..25035349-chr3:25037207..25041115,3	MCF-7	breast:
2	chr3:25014243..25016013-chr3:25025962..25028034,2	K562	blood:

Extended variants
information (count: 234 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182817074	chr3:25022601-25022602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556617457	chr3:25022660-25022661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186770545	chr3:25022664-25022665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372766717	chr3:25022669-25022670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543840364	chr3:25022685-25022686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563817330	chr3:25022762-25022763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542106066	chr3:25022763-25022764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540031547	chr3:25022766-25022767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375167585	chr3:25022818-25022819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560306562	chr3:25022829-25022830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573375586	chr3:25022852-25022853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4519669	chr3:25022866-25022867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529130870	chr3:25022946-25022947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549282632	chr3:25022961-25022962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555924710	chr3:25022994-25022995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562703582	chr3:25022996-25022997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531719579	chr3:25023019-25023020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191528145	chr3:25023038-25023039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111900689	chr3:25023042-25023043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539011400	chr3:25023077-25023078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184840283	chr3:25023081-25023082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545546404	chr3:25023088-25023089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564480337	chr3:25023092-25023093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560400547	chr3:25023096-25023097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148687780	chr3:25023097-25023098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116491578	chr3:25023127-25023128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4511858	chr3:25023137-25023138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs536511817	chr3:25023143-25023144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4075414	chr3:25023150-25023151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576357721	chr3:25023157-25023158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537446022	chr3:25023167-25023168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4254625	chr3:25023212-25023213	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs116264252	chr3:25023221-25023222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539944745	chr3:25023241-25023242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560063162	chr3:25023304-25023305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34587243	chr3:25023335-25023336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542488866	chr3:25023345-25023346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562777136	chr3:25023360-25023361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531681965	chr3:25023361-25023362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144958772	chr3:25023366-25023367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs4075413	chr3:25023381-25023382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs76024928	chr3:25023410-25023411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547890565	chr3:25023417-25023418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567689488	chr3:25023502-25023503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565930601	chr3:25023530-25023531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530294264	chr3:25023543-25023544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117756391	chr3:25023560-25023561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190242428	chr3:25023605-25023606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193258401	chr3:25023630-25023631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367874433	chr3:25023632-25023633	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	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
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:25022600-25025200	Enhancers	Fetal Muscle Leg	muscle
2	chr3:25022800-25023200	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr3:25022800-25023800	Enhancers	Fetal Muscle Trunk	muscle
4	chr3:25023000-25023800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:25023000-25024000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:25023200-25024400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:25023400-25024400	Enhancers	Fetal Stomach	stomach
8	chr3:25023600-25024800	Enhancers	Psoas Muscle	Psoas
9	chr3:25023800-25024200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:25023800-25024200	Enhancers	Fetal Lung	lung
11	chr3:25025200-25027200	Weak transcription	Fetal Muscle Leg	muscle
12	chr3:25027200-25027400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:25027200-25027400	Enhancers	Fetal Muscle Leg	muscle

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