Variant report

Variant	esv3358450
Chromosome Location	chr22:28776048-28781985
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 185 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:185 , 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	rs560024329	chr22:28776114-28776115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548276586	chr22:28776119-28776120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528677384	chr22:28776122-28776123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9613604	chr22:28776155-28776156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548912947	chr22:28776160-28776161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561877613	chr22:28776181-28776182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532315517	chr22:28776196-28776197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568728148	chr22:28776228-28776229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11702896	chr22:28776259-28776260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11703764	chr22:28776273-28776274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs695289	chr22:28776320-28776321	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182894960	chr22:28776423-28776424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79073705	chr22:28776432-28776433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149169432	chr22:28776458-28776459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557970392	chr22:28776492-28776493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143275381	chr22:28776520-28776521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60298528	chr22:28776528-28776529	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538152555	chr22:28776561-28776562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186475529	chr22:28776595-28776596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148319008	chr22:28776601-28776602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545230156	chr22:28776616-28776617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5762582	chr22:28776659-28776660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190911608	chr22:28776660-28776661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572090863	chr22:28776685-28776686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577813553	chr22:28776749-28776750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140462839	chr22:28776770-28776771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35313455	chr22:28776791-28776792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372822432	chr22:28776835-28776836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575948618	chr22:28776839-28776840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569540183	chr22:28776842-28776843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375969360	chr22:28776858-28776859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543764559	chr22:28776862-28776863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565144874	chr22:28776975-28776976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532434274	chr22:28777008-28777009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547641982	chr22:28777013-28777014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538760837	chr22:28777037-28777038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79250996	chr22:28777137-28777138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182953535	chr22:28777147-28777148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187543309	chr22:28777163-28777164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527822753	chr22:28777218-28777219	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539341674	chr22:28777221-28777222	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs199733181	chr22:28777232-28777233	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs567572461	chr22:28777237-28777238	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs558346989	chr22:28777347-28777348	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs552575738	chr22:28777409-28777410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565559852	chr22:28777412-28777413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569134545	chr22:28777447-28777448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549747207	chr22:28777464-28777465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538352403	chr22:28777467-28777468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370893237	chr22:28777486-28777487	Enhancers 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
Breast cancer	21509527	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
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28759800-28777200	Weak transcription	Fetal Stomach	stomach
2	chr22:28770000-28777400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr22:28770200-28777200	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:28770400-28777000	Weak transcription	NHLF	lung
5	chr22:28772000-28777200	Weak transcription	Ovary	ovary
6	chr22:28772400-28777000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:28772400-28777200	Weak transcription	NHDF-Ad	bronchial
8	chr22:28772800-28777000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:28772800-28777000	Weak transcription	Osteobl	bone
10	chr22:28773000-28777200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:28773200-28777600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:28774400-28777200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr22:28775000-28776400	Enhancers	Liver	Liver
14	chr22:28775000-28777200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:28775200-28778200	Enhancers	Adipose Nuclei	Adipose
16	chr22:28775600-28776800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:28775600-28776800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:28775800-28776400	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr22:28775800-28777200	Weak transcription	A549	lung
20	chr22:28775800-28778200	Enhancers	Fetal Brain Female	brain
21	chr22:28776000-28776200	Enhancers	Fetal Lung	lung
22	chr22:28776000-28776400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:28776000-28776600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr22:28776000-28778800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:28776000-28789000	Weak transcription	Dnd41	blood
26	chr22:28776200-28777200	Enhancers	Brain Germinal Matrix	brain
27	chr22:28776200-28777200	Weak transcription	Fetal Lung	lung
28	chr22:28776400-28777400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr22:28776400-28778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:28776400-28778200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr22:28776600-28777000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:28776600-28777400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr22:28776600-28778200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr22:28776600-28778600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr22:28776600-28778600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr22:28776600-28778800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr22:28776800-28777000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:28776800-28778000	Enhancers	Brain Hippocampus Middle	brain
39	chr22:28776800-28778200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr22:28776800-28789600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:28777000-28778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:28777000-28778000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:28777000-28778000	Enhancers	Brain Angular Gyrus	brain
44	chr22:28777000-28778200	Enhancers	NH-A	brain
45	chr22:28777000-28778200	Enhancers	NHLF	lung
46	chr22:28777000-28778600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:28777000-28778600	Enhancers	Osteobl	bone
48	chr22:28777000-28778800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr22:28777000-28789800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:28777200-28777400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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