Variant report

Variant	esv3391060
Chromosome Location	chr3:47240648-47245646
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:47244351..47246647-chr3:47288782..47291421,2	K562	blood:
2	chr3:47244578..47247467-chr3:47322927..47324918,2	MCF-7	breast:
3	chr3:47215840..47217709-chr3:47242966..47244606,2	K562	blood:

Variant related genes	Relation type
ENSG00000088727	chromatin interactions
ENSG00000114648	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372448310	chr3:47240651-47240652	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs569433689	chr3:47240653-47240654	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529739657	chr3:47240670-47240671	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73081723	chr3:47240676-47240677	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551482345	chr3:47240692-47240693	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566996682	chr3:47240756-47240757	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11130116	chr3:47240770-47240771	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188038781	chr3:47240839-47240840	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11130117	chr3:47240873-47240874	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs555853225	chr3:47240876-47240877	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs78787838	chr3:47240912-47240913	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs11130118	chr3:47240929-47240930	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535612797	chr3:47240934-47240935	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557318609	chr3:47240945-47240946	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562551477	chr3:47240948-47240949	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113181693	chr3:47240950-47240951	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575444297	chr3:47240985-47240986	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529650262	chr3:47241016-47241017	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs137903850	chr3:47241017-47241018	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs34518494	chr3:47241034-47241035	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11130119	chr3:47241117-47241118	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545820773	chr3:47241132-47241133	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs563932120	chr3:47241161-47241162	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs560698531	chr3:47241168-47241169	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs548129535	chr3:47241184-47241185	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148548244	chr3:47241185-47241186	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572751589	chr3:47241195-47241196	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs60106364	chr3:47241196-47241197	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs533638862	chr3:47241204-47241205	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs58206566	chr3:47241206-47241207	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561410661	chr3:47241212-47241213	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529479544	chr3:47241222-47241223	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs373969156	chr3:47241265-47241266	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs192661948	chr3:47241296-47241297	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563244031	chr3:47241363-47241364	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374905195	chr3:47241414-47241415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533448729	chr3:47241453-47241454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146127857	chr3:47241463-47241464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566757357	chr3:47241486-47241487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201705912	chr3:47241513-47241514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183892539	chr3:47241517-47241518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570945626	chr3:47241530-47241531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375508578	chr3:47241531-47241532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397811146	chr3:47241551-47241552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140109951	chr3:47241667-47241668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567748665	chr3:47241675-47241676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552861697	chr3:47241701-47241702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111466700	chr3:47241708-47241709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571144096	chr3:47241795-47241796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535693268	chr3:47241819-47241820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47207000-47253800	Weak transcription	Aorta	Aorta
2	chr3:47208000-47249600	Weak transcription	Ovary	ovary
3	chr3:47208200-47256400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:47208200-47276600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:47219400-47243400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:47221000-47250200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:47222600-47244200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:47222800-47249000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:47222800-47249400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:47223400-47242800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr3:47223400-47245200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr3:47223400-47256600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:47223800-47252600	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:47223800-47269200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:47224200-47250200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:47236200-47256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:47236800-47248400	Weak transcription	Brain Angular Gyrus	brain
18	chr3:47238400-47256400	Weak transcription	Right Atrium	heart
19	chr3:47240200-47241400	Active TSS	Placenta	Placenta
20	chr3:47242800-47243200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:47245000-47247000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:47245200-47245600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:47245400-47266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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