Variant report

Variant	esv3324674
Chromosome Location	chr2:233764312-233765807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:168 , 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	rs72152781	chr2:233764316-233764317	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs34052012	chr2:233764317-233764318	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs71405718	chr2:233764320-233764321	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs372598002	chr2:233764321-233764322	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs13032999	chr2:233764325-233764326	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs199859016	chr2:233764330-233764331	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113092416	chr2:233764331-233764332	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202240332	chr2:233764337-233764338	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs71058507	chr2:233764338-233764339	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs576707408	chr2:233764355-233764356	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs71405717	chr2:233764370-233764371	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144523879	chr2:233764372-233764373	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs386392907	chr2:233764373-233764374	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs386392908	chr2:233764377-233764378	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs59282713	chr2:233764378-233764379	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs202205544	chr2:233764379-233764380	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs542173911	chr2:233764385-233764386	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs72976131	chr2:233764398-233764399	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs61314445	chr2:233764399-233764400	Weak transcription Enhancers Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs61606238	chr2:233764404-233764405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs57270935	chr2:233764414-233764415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71058508	chr2:233764417-233764418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199901260	chr2:233764422-233764423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368309251	chr2:233764423-233764424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398071527	chr2:233764424-233764425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111209802	chr2:233764429-233764430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111209803	chr2:233764430-233764431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574353414	chr2:233764431-233764432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539802986	chr2:233764433-233764434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185992152	chr2:233764440-233764441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60462237	chr2:233764457-233764458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532075078	chr2:233764463-233764464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111162795	chr2:233764464-233764465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60400898	chr2:233764465-233764466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545625061	chr2:233764467-233764468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189142355	chr2:233764490-233764491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139074632	chr2:233764506-233764507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145579077	chr2:233764507-233764508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386392910	chr2:233764514-233764515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57678870	chr2:233764515-233764516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138846055	chr2:233764516-233764517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141405024	chr2:233764518-233764519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145003215	chr2:233764520-233764521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397962001	chr2:233764522-233764523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563167255	chr2:233764545-233764546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199508746	chr2:233764547-233764548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371893646	chr2:233764555-233764556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531502106	chr2:233764608-233764609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58637177	chr2:233764611-233764612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374988239	chr2:233764617-233764618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233749400-233766000	Weak transcription	A549	lung
2	chr2:233751000-233766000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:233756600-233766400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:233756800-233765400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:233757000-233765400	Weak transcription	Pancreas	Pancrea
6	chr2:233757000-233766200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:233757000-233766200	Weak transcription	Fetal Brain Female	brain
8	chr2:233757000-233766400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:233757400-233776600	Weak transcription	Brain Angular Gyrus	brain
10	chr2:233758200-233768800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:233759200-233784400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:233759400-233765800	Weak transcription	Esophagus	oesophagus
13	chr2:233759800-233766000	Weak transcription	Colonic Mucosa	Colon
14	chr2:233759800-233766400	Weak transcription	HepG2	liver
15	chr2:233761000-233765800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:233763200-233766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:233763600-233764400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:233763600-233765600	Weak transcription	Fetal Intestine Small	intestine
19	chr2:233763600-233766000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:233763800-233764400	Bivalent/Poised TSS	Fetal Brain Male	brain
21	chr2:233764000-233765600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:233764000-233766200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:233764000-233766200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:233764000-233768800	Weak transcription	Gastric	stomach
25	chr2:233764000-233783800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:233764200-233765400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:233764200-233765600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:233764200-233765600	Weak transcription	Hela-S3	cervix
29	chr2:233764200-233765800	Weak transcription	NHLF	lung
30	chr2:233764200-233766200	Weak transcription	Liver	Liver
31	chr2:233764200-233766200	Weak transcription	Spleen	Spleen
32	chr2:233764200-233766400	Weak transcription	Ovary	ovary
33	chr2:233764400-233765800	Weak transcription	HUVEC	blood vessel
34	chr2:233764400-233766000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:233765400-233765600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:233765400-233765600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
37	chr2:233765400-233765600	Enhancers	Primary B cells from cord blood	blood
38	chr2:233765400-233765800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
39	chr2:233765400-233765800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr2:233765400-233765800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr2:233765400-233765800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr2:233765400-233765800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr2:233765400-233766600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:233765400-233766600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:233765400-233767200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr2:233765400-233767200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:233765600-233765800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:233765600-233765800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:233765600-233765800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:233765600-233766200	Enhancers	Hela-S3	cervix

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