Variant report

Variant	esv3351308
Chromosome Location	chr3:49115759-49116174
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	chr3:49044904..49047427-chr3:49115709..49117786,2	MCF-7	breast:
2	chr3:49113907..49116701-chr3:49123584..49125304,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178252	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576547425	chr3:49115767-49115768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs543965358	chr3:49115803-49115804	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs62262511	chr3:49115814-49115815	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs62262512	chr3:49115816-49115817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs60933196	chr3:49115820-49115821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553631957	chr3:49115878-49115879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11712006	chr3:49115948-49115949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs547236205	chr3:49115952-49115953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565885665	chr3:49115953-49115954	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75702723	chr3:49115972-49115973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367995265	chr3:49115983-49115984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs144734110	chr3:49115991-49115992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148444551	chr3:49116014-49116015	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558915868	chr3:49116070-49116071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs572095823	chr3:49116128-49116129	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs57367580	chr3:49116148-49116149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Medullary thyroid carcinoma	18765511	CNVD
abnormal development	18461090	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49066800-49130000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:49066800-49130200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49067200-49116600	Weak transcription	Right Atrium	heart
4	chr3:49067200-49117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:49067400-49117200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr3:49067400-49117200	Strong transcription	Fetal Thymus	thymus
7	chr3:49067400-49117400	Strong transcription	Fetal Intestine Small	intestine
8	chr3:49067400-49117400	Strong transcription	Fetal Stomach	stomach
9	chr3:49067400-49117800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:49067400-49118400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:49067600-49117200	Strong transcription	Thymus	Thymus
12	chr3:49067600-49117600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:49067800-49117400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:49070800-49117000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:49073400-49118200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr3:49077400-49117200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:49084600-49117200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:49087800-49117600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:49088000-49116800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:49088000-49117200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:49088000-49118400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:49088200-49116800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:49088400-49116800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:49088600-49116400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr3:49088600-49116800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr3:49088600-49116800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:49094600-49128200	Weak transcription	Fetal Brain Male	brain
28	chr3:49095000-49117000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:49095200-49117200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:49095400-49129600	Weak transcription	Stomach Mucosa	stomach
31	chr3:49096400-49116800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:49096800-49116800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:49096800-49116800	Strong transcription	Placenta	Placenta
34	chr3:49096800-49117200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:49097200-49117200	Strong transcription	Fetal Muscle Leg	muscle
36	chr3:49097800-49118200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:49097800-49118200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr3:49098000-49116000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr3:49098000-49116800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr3:49098000-49116800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:49098000-49116800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:49098000-49116800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr3:49098000-49117000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:49098000-49117400	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr3:49098000-49117800	Strong transcription	Dnd41	blood
46	chr3:49098200-49116000	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr3:49099200-49117200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:49100200-49115800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
49	chr3:49100400-49115800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr3:49100600-49117000	Strong transcription	Left Ventricle	heart

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