Variant report

Variant	esv3340340
Chromosome Location	chr22:32541052-32543350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs79866102	chr22:32541052-32541053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1023467	chr22:32541089-32541090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192084180	chr22:32541103-32541104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184094242	chr22:32541115-32541116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114281329	chr22:32541125-32541126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2899175	chr22:32541136-32541137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2413071	chr22:32541138-32541139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543949585	chr22:32541149-32541150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113974257	chr22:32541167-32541168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572747244	chr22:32541173-32541174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535358561	chr22:32541214-32541215	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs188496078	chr22:32541224-32541225	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs540195102	chr22:32541243-32541244	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115393686	chr22:32541244-32541245	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs529178069	chr22:32541249-32541250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs180977823	chr22:32541260-32541261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562530122	chr22:32541268-32541269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs543688524	chr22:32541291-32541292	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs143387710	chr22:32541301-32541302	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554949553	chr22:32541336-32541337	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs9609445	chr22:32541339-32541340	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140406371	chr22:32541344-32541345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs113597727	chr22:32541348-32541349	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184207384	chr22:32541349-32541350	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs369569013	chr22:32541364-32541365	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs190654874	chr22:32541373-32541374	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs150184422	chr22:32541405-32541406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182289897	chr22:32541423-32541424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116814857	chr22:32541427-32541428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557578233	chr22:32541429-32541430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577621107	chr22:32541430-32541431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529682092	chr22:32541435-32541436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575047790	chr22:32541442-32541443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560160488	chr22:32541451-32541452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9609446	chr22:32541464-32541465	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs12163179	chr22:32541493-32541494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561275643	chr22:32541496-32541497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5998251	chr22:32541499-32541500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5998252	chr22:32541501-32541502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9609447	chr22:32541509-32541510	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs12160083	chr22:32541515-32541516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12163180	chr22:32541520-32541521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531413893	chr22:32541522-32541523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9609448	chr22:32541528-32541529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12160105	chr22:32541547-32541548	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs374061074	chr22:32541548-32541549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9609449	chr22:32541553-32541554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565255175	chr22:32541555-32541556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571341228	chr22:32541572-32541573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376870989	chr22:32541579-32541580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32536600-32541600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr22:32537400-32541400	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr22:32537400-32541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:32537800-32541400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:32537800-32541400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:32538000-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:32538800-32541400	Enhancers	Primary hematopoietic stem cells	blood
10	chr22:32540400-32541200	Enhancers	Primary T cells from cord blood	blood
11	chr22:32540400-32541200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr22:32540400-32541400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:32540400-32541400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr22:32540400-32541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr22:32540400-32541400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr22:32540400-32541600	Enhancers	Primary B cells from peripheral blood	blood
17	chr22:32540400-32541600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr22:32540600-32541200	Enhancers	HMEC	breast
19	chr22:32540600-32541400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr22:32540600-32541400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:32540600-32541400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr22:32540600-32541400	Enhancers	Spleen	Spleen
23	chr22:32540800-32541200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr22:32540800-32541400	Enhancers	GM12878-XiMat	blood
25	chr22:32540800-32541600	Enhancers	Primary B cells from cord blood	blood
26	chr22:32541000-32541200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr22:32541000-32541400	Enhancers	Placenta	Placenta
28	chr22:32541200-32541400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr22:32541400-32544000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr22:32541400-32548600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:32542800-32543200	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr22:32543000-32543200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr22:32543000-32543200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr22:32543200-32543800	Enhancers	HUES48 Cell Line	embryonic stem cell

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