Variant report

Variant	esv3425377
Chromosome Location	chr22:32540377-32542925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:161 , 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	rs34782715	chr22:32540417-32540418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201775492	chr22:32540418-32540419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs557842142	chr22:32540419-32540420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189101078	chr22:32540434-32540435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs146484500	chr22:32540447-32540448	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35928637	chr22:32540467-32540468	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs553989823	chr22:32540499-32540500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143380455	chr22:32540505-32540506	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35289543	chr22:32540512-32540513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs573883858	chr22:32540522-32540523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs386820703	chr22:32540564-32540565	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561448303	chr22:32540581-32540582	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs530494678	chr22:32540610-32540611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs8141334	chr22:32540651-32540652	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs563909441	chr22:32540666-32540667	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77019744	chr22:32540674-32540675	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115843823	chr22:32540734-32540735	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139941927	chr22:32540756-32540757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74866357	chr22:32540764-32540765	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549152373	chr22:32540765-32540766	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569398726	chr22:32540857-32540858	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs537920529	chr22:32540866-32540867	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs370123807	chr22:32540873-32540874	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375291470	chr22:32540889-32540890	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs571530182	chr22:32540978-32540979	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs12167939	chr22:32540987-32540988	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535134547	chr22:32541013-32541014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79866102	chr22:32541052-32541053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1023467	chr22:32541089-32541090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192084180	chr22:32541103-32541104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184094242	chr22:32541115-32541116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114281329	chr22:32541125-32541126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2899175	chr22:32541136-32541137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2413071	chr22:32541138-32541139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543949585	chr22:32541149-32541150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113974257	chr22:32541167-32541168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572747244	chr22:32541173-32541174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535358561	chr22:32541214-32541215	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs188496078	chr22:32541224-32541225	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs540195102	chr22:32541243-32541244	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs115393686	chr22:32541244-32541245	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs529178069	chr22:32541249-32541250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs180977823	chr22:32541260-32541261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs562530122	chr22:32541268-32541269	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543688524	chr22:32541291-32541292	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143387710	chr22:32541301-32541302	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs554949553	chr22:32541336-32541337	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9609445	chr22:32541339-32541340	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140406371	chr22:32541344-32541345	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113597727	chr22:32541348-32541349	Enhancers Flanking Active TSS	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32534600-32540400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr22:32534600-32540800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:32534800-32540400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr22:32536600-32541600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:32537400-32541400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr22:32537400-32541400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr22:32537800-32541400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:32537800-32541400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr22:32537800-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:32538000-32541400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:32538600-32540400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr22:32538800-32541400	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:32539000-32540400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr22:32539000-32540400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr22:32539000-32540400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:32539000-32540400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr22:32539400-32540400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:32539600-32540600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr22:32539800-32540600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:32540000-32541000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr22:32540200-32540600	Enhancers	Duodenum Mucosa	Duodenum
23	chr22:32540400-32540600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr22:32540400-32541200	Enhancers	Primary T cells from cord blood	blood
25	chr22:32540400-32541200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr22:32540400-32541400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:32540400-32541400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr22:32540400-32541400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:32540400-32541400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr22:32540400-32541600	Enhancers	Primary B cells from peripheral blood	blood
31	chr22:32540400-32541600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr22:32540600-32540800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:32540600-32541200	Enhancers	HMEC	breast
34	chr22:32540600-32541400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr22:32540600-32541400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:32540600-32541400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr22:32540600-32541400	Enhancers	Spleen	Spleen
38	chr22:32540800-32541200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr22:32540800-32541400	Enhancers	GM12878-XiMat	blood
40	chr22:32540800-32541600	Enhancers	Primary B cells from cord blood	blood
41	chr22:32541000-32541200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr22:32541000-32541400	Enhancers	Placenta	Placenta
43	chr22:32541200-32541400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr22:32541400-32544000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr22:32541400-32548600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr22:32542800-32543200	Active TSS	iPS-20b Cell Line	embryonic stem cell

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