Variant report

Variant	esv3369038
Chromosome Location	chr3:93837590-93838086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 53 )

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	rs143715536	chr3:93837590-93837591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540934088	chr3:93837605-93837606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563901082	chr3:93837615-93837616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189832549	chr3:93837622-93837623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573158145	chr3:93837640-93837641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183532294	chr3:93837724-93837725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs55938714	chr3:93837786-93837787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187920228	chr3:93837828-93837829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550635150	chr3:93837896-93837897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529383557	chr3:93837944-93837945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562779190	chr3:93837955-93837956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533199485	chr3:93837968-93837969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549329702	chr3:93837983-93837984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569061870	chr3:93838019-93838020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565942370	chr3:93838026-93838027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4857026	chr3:93838048-93838049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	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
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:93782800-93848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:93782800-93849400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:93783200-93851600	Weak transcription	HMEC	breast
4	chr3:93783600-93837800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:93786800-93849800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:93791400-93841200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:93795600-93847000	Weak transcription	Osteobl	bone
8	chr3:93796000-93857800	Weak transcription	Fetal Brain Male	brain
9	chr3:93799000-93851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:93800200-93851000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:93802400-93849600	Weak transcription	Stomach Mucosa	stomach
12	chr3:93802600-93851800	Weak transcription	Small Intestine	intestine
13	chr3:93808400-93849600	Weak transcription	Fetal Heart	heart
14	chr3:93812400-93852200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:93814600-93845200	Weak transcription	Esophagus	oesophagus
16	chr3:93814600-93847000	Weak transcription	Spleen	Spleen
17	chr3:93814600-93849400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:93814600-93849400	Weak transcription	Right Ventricle	heart
19	chr3:93814600-93849600	Weak transcription	Brain Hippocampus Middle	brain
20	chr3:93814600-93849800	Weak transcription	Colonic Mucosa	Colon
21	chr3:93814800-93845200	Weak transcription	Gastric	stomach
22	chr3:93814800-93857800	Weak transcription	Pancreas	Pancrea
23	chr3:93815600-93848400	Weak transcription	Placenta	Placenta
24	chr3:93817200-93844800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:93817400-93849600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:93817600-93847000	Weak transcription	HepG2	liver
27	chr3:93817600-93848000	Weak transcription	NH-A	brain
28	chr3:93817800-93843000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:93817800-93846000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:93817800-93848000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:93818000-93850200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:93818600-93843200	Weak transcription	Aorta	Aorta
33	chr3:93818600-93847000	Weak transcription	Lung	lung
34	chr3:93818800-93839800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:93819400-93844800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:93819400-93850400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:93823000-93845600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr3:93823600-93849800	Weak transcription	HSMMtube	muscle
39	chr3:93823600-93857600	Weak transcription	Fetal Brain Female	brain
40	chr3:93824800-93845200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr3:93825400-93848000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr3:93826400-93843000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:93826400-93844600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:93826400-93844800	Weak transcription	Fetal Stomach	stomach
45	chr3:93826400-93851800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr3:93826800-93851400	Weak transcription	Hela-S3	cervix
47	chr3:93827600-93842000	Weak transcription	Fetal Intestine Small	intestine
48	chr3:93828800-93856000	Weak transcription	HSMM	muscle
49	chr3:93831200-93842200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:93831200-93844600	Weak transcription	Thymus	Thymus

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