Variant report

Variant	esv2234420
Chromosome Location	chr22:27720762-27721150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:27707736..27710195-chr22:27719270..27720776,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs483967	chr22:27720827-27720828	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs111604010	chr22:27720851-27720852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs67842312	chr22:27720852-27720853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs58494640	chr22:27720854-27720855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28678922	chr22:27720855-27720856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150647664	chr22:27720865-27720866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs67967394	chr22:27720866-27720867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28604424	chr22:27720869-27720870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61303707	chr22:27720878-27720879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13058089	chr22:27720879-27720880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201927281	chr22:27720880-27720881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs13056089	chr22:27720885-27720886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13056091	chr22:27720887-27720888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13058100	chr22:27720893-27720894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28397891	chr22:27720897-27720898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28649634	chr22:27720904-27720905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569524136	chr22:27720910-27720911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368047963	chr22:27720916-27720917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs71752823	chr22:27720971-27720972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72180554	chr22:27720975-27720976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58235688	chr22:27720978-27720979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552121863	chr22:27720983-27720984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571725076	chr22:27720995-27720996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542299663	chr22:27720997-27720998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566058474	chr22:27721028-27721029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146751083	chr22:27721040-27721041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369736592	chr22:27721041-27721042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560679427	chr22:27721052-27721053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12172615	chr22:27721062-27721063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12172571	chr22:27721064-27721065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12172616	chr22:27721079-27721080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12172126	chr22:27721082-27721083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372009547	chr22:27721134-27721135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373998212	chr22:27721136-27721137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs58339294	chr22:27721137-27721138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367575958	chr22:27721138-27721139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371378935	chr22:27721140-27721141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373495937	chr22:27721141-27721142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27715200-27727400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr22:27718200-27722000	Enhancers	Fetal Brain Male	brain
3	chr22:27719000-27721400	Enhancers	Fetal Brain Female	brain
4	chr22:27720000-27725400	Weak transcription	Brain Germinal Matrix	brain
5	chr22:27720200-27725000	Weak transcription	Ovary	ovary
6	chr22:27720400-27721600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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