Variant report

Variant	esv3330123
Chromosome Location	chr3:112088854-112089689
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71134827	chr3:112088868-112088869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199969511	chr3:112088869-112088870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140270324	chr3:112088929-112088930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71134828	chr3:112088937-112088938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2399424	chr3:112088939-112088940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559834346	chr3:112089090-112089091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550307433	chr3:112089117-112089118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563670174	chr3:112089128-112089129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532592545	chr3:112089152-112089153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552485830	chr3:112089202-112089203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190664340	chr3:112089225-112089226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548674803	chr3:112089238-112089239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4339085	chr3:112089255-112089256	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537100668	chr3:112089259-112089260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537204051	chr3:112089289-112089290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556682390	chr3:112089293-112089294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182498656	chr3:112089309-112089310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539078546	chr3:112089348-112089349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2399425	chr3:112089351-112089352	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568891475	chr3:112089352-112089353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570633939	chr3:112089385-112089386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527518976	chr3:112089406-112089407	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531382452	chr3:112089424-112089425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572670556	chr3:112089459-112089460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541376634	chr3:112089467-112089468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187247147	chr3:112089481-112089482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371526953	chr3:112089490-112089491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574980363	chr3:112089507-112089508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543926075	chr3:112089550-112089551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563807813	chr3:112089590-112089591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115929249	chr3:112089602-112089603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192189702	chr3:112089618-112089619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139333638	chr3:112089633-112089634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112066000-112089800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:112069200-112095400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr3:112070800-112090600	Weak transcription	Brain Hippocampus Middle	brain
4	chr3:112077200-112094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:112080000-112096000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:112081200-112092800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:112081400-112091600	Weak transcription	Primary T cells from cord blood	blood
9	chr3:112082200-112096000	Weak transcription	Fetal Stomach	stomach
10	chr3:112082600-112094600	Weak transcription	Brain Anterior Caudate	brain
11	chr3:112083400-112092200	Weak transcription	Primary B cells from cord blood	blood
12	chr3:112083800-112090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:112083800-112092200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:112084000-112090600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:112084000-112094800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:112084200-112092600	Weak transcription	Fetal Kidney	kidney
17	chr3:112084400-112091600	Weak transcription	Placenta	Placenta
18	chr3:112084600-112093200	Weak transcription	Fetal Lung	lung
19	chr3:112084800-112096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:112084800-112096800	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:112085000-112089800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr3:112085000-112095600	Weak transcription	Thymus	Thymus
23	chr3:112085400-112096000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:112085600-112095400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:112085600-112096000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:112085800-112089200	Weak transcription	Fetal Brain Female	brain
27	chr3:112085800-112091400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:112085800-112091400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr3:112085800-112091400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:112085800-112092200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr3:112085800-112096400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr3:112085800-112096600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
34	chr3:112086000-112095000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:112086000-112095600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:112086200-112091200	Weak transcription	Brain Angular Gyrus	brain
37	chr3:112086200-112091400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr3:112086200-112092200	Weak transcription	Fetal Thymus	thymus
39	chr3:112087600-112096400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:112088000-112089600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:112088000-112090600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:112088200-112089800	Weak transcription	Brain Germinal Matrix	brain
43	chr3:112088200-112092800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:112088400-112091400	Weak transcription	Adipose Nuclei	Adipose
45	chr3:112089600-112090200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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