Variant report

Variant	esv13660
Chromosome Location	chr22:27704015-27704564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375241619	chr22:27704025-27704026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192740560	chr22:27704028-27704029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs115349529	chr22:27704033-27704034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182368593	chr22:27704042-27704043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551062820	chr22:27704047-27704048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188459141	chr22:27704069-27704070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540045453	chr22:27704097-27704098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552066631	chr22:27704098-27704099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567204246	chr22:27704128-27704129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192684075	chr22:27704213-27704214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555445444	chr22:27704231-27704232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573674066	chr22:27704234-27704235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73430465	chr22:27704248-27704249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556228747	chr22:27704263-27704264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144110208	chr22:27704292-27704293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545639247	chr22:27704293-27704294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544820922	chr22:27704297-27704298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185432136	chr22:27704317-27704318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553636537	chr22:27704333-27704334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146477520	chr22:27704354-27704355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140915739	chr22:27704365-27704366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562708757	chr22:27704371-27704372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561706419	chr22:27704374-27704375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529291563	chr22:27704421-27704422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10483133	chr22:27704433-27704434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563013713	chr22:27704438-27704439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533346309	chr22:27704454-27704455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs713818	chr22:27704503-27704504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:72)

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
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Cancer	21183584	CNVD
Breast cancer	17142309	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27697000-27705800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:27698600-27706200	Weak transcription	Brain Germinal Matrix	brain
3	chr22:27703400-27706200	Weak transcription	Fetal Brain Female	brain
4	chr22:27703400-27706800	Weak transcription	Fetal Intestine Large	intestine
5	chr22:27703600-27704600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:27703600-27706200	Enhancers	Fetal Muscle Leg	muscle
7	chr22:27703600-27706800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr22:27703800-27704600	Enhancers	Adipose Nuclei	Adipose
9	chr22:27703800-27705000	Weak transcription	Fetal Brain Male	brain
10	chr22:27704000-27704200	Enhancers	Right Atrium	heart
11	chr22:27704000-27705800	Weak transcription	Ovary	ovary
12	chr22:27704200-27704600	Enhancers	Fetal Stomach	stomach
13	chr22:27704200-27708600	Weak transcription	Right Atrium	heart

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