Variant report

Variant	esv2464539
Chromosome Location	chr3:46223233-46224709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46224582..46227579-chr3:46229207..46231436,3	MCF-7	breast:
2	chr3:46224495..46227137-chr3:46235369..46237758,2	K562	blood:
3	chr3:46221407..46223602-chr3:46228126..46230272,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555751351	chr3:46223267-46223268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566771640	chr3:46223330-46223331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534159988	chr3:46223413-46223414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555792524	chr3:46223482-46223483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113065430	chr3:46223541-46223542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574025353	chr3:46223553-46223554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112571670	chr3:46223598-46223599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375173436	chr3:46223630-46223631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553673291	chr3:46223686-46223687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572161910	chr3:46223719-46223720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538095400	chr3:46223730-46223731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556328246	chr3:46223731-46223732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367911893	chr3:46223776-46223777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371027343	chr3:46223795-46223796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62243913	chr3:46223859-46223860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547671317	chr3:46223903-46223904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199824328	chr3:46223914-46223915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367710667	chr3:46223951-46223952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58936995	chr3:46223952-46223953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200846364	chr3:46223953-46223954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202005814	chr3:46223954-46223955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200127929	chr3:46223955-46223956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201166841	chr3:46223956-46223957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146347968	chr3:46223992-46223993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111524817	chr3:46224021-46224022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145269519	chr3:46224024-46224025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149170722	chr3:46224027-46224028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188382545	chr3:46224030-46224031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191781111	chr3:46224033-46224034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183499263	chr3:46224040-46224041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188185220	chr3:46224052-46224053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542993254	chr3:46224055-46224056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561758899	chr3:46224058-46224059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528973190	chr3:46224061-46224062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs202196325	chr3:46224067-46224068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200233906	chr3:46224073-46224074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9985282	chr3:46224079-46224080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113502029	chr3:46224082-46224083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200911463	chr3:46224083-46224084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533524120	chr3:46224085-46224086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375455460	chr3:46224091-46224092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs9985283	chr3:46224094-46224095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552019349	chr3:46224097-46224098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11708882	chr3:46224100-46224101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371265932	chr3:46224105-46224106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531257847	chr3:46224118-46224119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9985284	chr3:46224130-46224131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9985285	chr3:46224136-46224137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs56046789	chr3:46224151-46224152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567690390	chr3:46224152-46224153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
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	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
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Breast cancer	21509527	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute myeloid leukemia	17268525	CNVD
Salivary gland tumor	18059337	CNVD
Gastric cancer	16891809	CNVD
Night blindness	17160897	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Lung cancer	17297452	CNVD
Multiple myeloma	16616336	CNVD
Effusion lymphoma	18079361	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46212200-46224800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:46223600-46231400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46224200-46224600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr3:46224200-46225800	Enhancers	Primary B cells from peripheral blood	blood
5	chr3:46224400-46224600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr3:46224400-46224600	Enhancers	HSMMtube	muscle
7	chr3:46224400-46224800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:46224400-46225000	Enhancers	Placenta	Placenta
9	chr3:46224400-46225200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr3:46224400-46225200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:46224400-46225200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr3:46224400-46225200	ZNF genes & repeats	GM12878-XiMat	blood
13	chr3:46224400-46225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:46224400-46225400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:46224400-46225600	Enhancers	Primary B cells from cord blood	blood
16	chr3:46224400-46225600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr3:46224600-46224800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:46224600-46225000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr3:46224600-46225200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:46224600-46225200	Enhancers	Fetal Thymus	thymus
21	chr3:46224600-46225200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr3:46224600-46225600	Weak transcription	HSMMtube	muscle

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