Variant report

Variant	esv3384954
Chromosome Location	chr22:29805452-29807700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182864470	chr22:29805487-29805488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150538747	chr22:29805551-29805552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556644929	chr22:29805615-29805616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371593592	chr22:29805620-29805621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13058114	chr22:29805622-29805623	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539538256	chr22:29805664-29805665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559237453	chr22:29805670-29805671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577501805	chr22:29805689-29805690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188664127	chr22:29805746-29805747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560013797	chr22:29805771-29805772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574996615	chr22:29805811-29805812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1963292	chr22:29805867-29805868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563295116	chr22:29805884-29805885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530957555	chr22:29805885-29805886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552243308	chr22:29806003-29806004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563973840	chr22:29806013-29806014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114307286	chr22:29806018-29806019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201011671	chr22:29806019-29806020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192370754	chr22:29806039-29806040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139491624	chr22:29806044-29806045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184046633	chr22:29806105-29806106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535343582	chr22:29806121-29806122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188581959	chr22:29806129-29806130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142073843	chr22:29806131-29806132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141132381	chr22:29806132-29806133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377127083	chr22:29806163-29806164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372227316	chr22:29806179-29806180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550644436	chr22:29806197-29806198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376449756	chr22:29806204-29806205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6006127	chr22:29806217-29806218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs5763214	chr22:29806222-29806223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539579505	chr22:29806232-29806233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12157611	chr22:29806259-29806260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192341766	chr22:29806262-29806263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572944021	chr22:29806270-29806271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201147266	chr22:29806274-29806275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12157738	chr22:29806277-29806278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202171421	chr22:29806281-29806282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12157385	chr22:29806283-29806284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535233340	chr22:29806289-29806290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6006128	chr22:29806293-29806294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553248562	chr22:29806294-29806295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6006129	chr22:29806295-29806296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs66715066	chr22:29806305-29806306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542155414	chr22:29806307-29806308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12157390	chr22:29806326-29806327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12158622	chr22:29806332-29806333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12157411	chr22:29806338-29806339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568553147	chr22:29806345-29806346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71196663	chr22:29806346-29806347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
abnormal development	18461090	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29804400-29805800	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr22:29804400-29806000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:29804800-29805600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:29805000-29805600	Enhancers	Primary B cells from cord blood	blood
5	chr22:29805000-29805600	Enhancers	Primary B cells from peripheral blood	blood
6	chr22:29805400-29805600	Enhancers	GM12878-XiMat	blood
7	chr22:29805400-29807000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:29805600-29806600	Weak transcription	Primary B cells from cord blood	blood
9	chr22:29805600-29806800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:29805600-29806800	Weak transcription	GM12878-XiMat	blood
11	chr22:29805600-29807200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:29805800-29807200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr22:29806000-29807000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr22:29806600-29808800	Enhancers	Primary B cells from cord blood	blood
15	chr22:29806800-29809200	Enhancers	Primary B cells from peripheral blood	blood
16	chr22:29806800-29810400	Enhancers	GM12878-XiMat	blood
17	chr22:29807000-29808400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:29807000-29809000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr22:29807200-29807800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr22:29807200-29808400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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