Variant report

Variant	esv2129010
Chromosome Location	chr3:113039102-113039534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570097655	chr3:113039110-113039111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201922076	chr3:113039169-113039170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537476798	chr3:113039212-113039213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73235048	chr3:113039260-113039261	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199946937	chr3:113039262-113039263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200935553	chr3:113039270-113039271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183101994	chr3:113039272-113039273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201694980	chr3:113039280-113039281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141728435	chr3:113039282-113039283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200949157	chr3:113039290-113039291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199780511	chr3:113039300-113039301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10548191	chr3:113039306-113039307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200020186	chr3:113039313-113039314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200955458	chr3:113039314-113039315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553884435	chr3:113039327-113039328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs202191835	chr3:113039328-113039329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200840699	chr3:113039336-113039337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201622357	chr3:113039340-113039341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201363993	chr3:113039355-113039356	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374680034	chr3:113039359-113039360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7633428	chr3:113039360-113039361	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs539731838	chr3:113039383-113039384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558115052	chr3:113039385-113039386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576504713	chr3:113039408-113039409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543877847	chr3:113039410-113039411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561948543	chr3:113039428-113039429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189031228	chr3:113039512-113039513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112996400-113046400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:113001200-113044600	Weak transcription	Fetal Kidney	kidney
3	chr3:113007200-113043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:113013600-113065200	Weak transcription	Left Ventricle	heart
5	chr3:113020800-113041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:113023400-113041600	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:113024600-113046600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:113024600-113081000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:113028600-113053400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:113034400-113046800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr3:113034800-113044600	Weak transcription	Liver	Liver
12	chr3:113034800-113044600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:113034800-113044800	Weak transcription	A549	lung
14	chr3:113034800-113048400	Weak transcription	Fetal Lung	lung
15	chr3:113034800-113053600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr3:113034800-113054000	Weak transcription	Psoas Muscle	Psoas
17	chr3:113035000-113040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr3:113035000-113044600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr3:113035000-113050800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:113035000-113052000	Weak transcription	HSMMtube	muscle
21	chr3:113035000-113053000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:113035200-113044800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:113035400-113044600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:113035400-113045000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:113035400-113052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:113035800-113046400	Weak transcription	Colon Smooth Muscle	Colon
27	chr3:113036400-113044600	Weak transcription	Brain Anterior Caudate	brain
28	chr3:113036400-113053400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr3:113036400-113055600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr3:113036600-113040400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:113036600-113044400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:113036600-113044800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:113036600-113049800	Weak transcription	Fetal Intestine Large	intestine
34	chr3:113036600-113051000	Weak transcription	Thymus	Thymus
35	chr3:113036600-113081000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr3:113036800-113039400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:113036800-113040000	Weak transcription	Primary T cells from cord blood	blood
38	chr3:113036800-113041000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr3:113036800-113041400	Weak transcription	Ovary	ovary
40	chr3:113036800-113041600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:113036800-113041600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:113036800-113041800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:113036800-113041800	Weak transcription	Pancreas	Pancrea
44	chr3:113036800-113041800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:113036800-113043400	Weak transcription	Fetal Stomach	stomach
46	chr3:113036800-113046000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr3:113036800-113050000	Weak transcription	Right Ventricle	heart
48	chr3:113036800-113050400	Weak transcription	Lung	lung
49	chr3:113036800-113065600	Weak transcription	Aorta	Aorta
50	chr3:113036800-113073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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