Variant report

Variant	esv3427875
Chromosome Location	chr22:28948198-28950739
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	chr22:28946345..28949286-chr22:28954414..28956604,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530541001	chr22:28948218-28948219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551807081	chr22:28948356-28948357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570121724	chr22:28948358-28948359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9625501	chr22:28948411-28948412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs567990546	chr22:28948431-28948432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58065411	chr22:28948435-28948436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs58853606	chr22:28948438-28948439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145474760	chr22:28948471-28948472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532289315	chr22:28948497-28948498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535852307	chr22:28948503-28948504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553067524	chr22:28948522-28948523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537160210	chr22:28948525-28948526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552199731	chr22:28948543-28948544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559638841	chr22:28948548-28948549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182417833	chr22:28948622-28948623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577361520	chr22:28948635-28948636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541416056	chr22:28948637-28948638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560123981	chr22:28948665-28948666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376505566	chr22:28948746-28948747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575047399	chr22:28948750-28948751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145915813	chr22:28948751-28948752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542482294	chr22:28948752-28948753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71194774	chr22:28948768-28948769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201313044	chr22:28948769-28948770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563732991	chr22:28948771-28948772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531092859	chr22:28948805-28948806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551894023	chr22:28948817-28948818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563835700	chr22:28948822-28948823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550591854	chr22:28948840-28948841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185413154	chr22:28948847-28948848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9613647	chr22:28948856-28948857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568011885	chr22:28948867-28948868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183839663	chr22:28948883-28948884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544558662	chr22:28948899-28948900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs9613648	chr22:28948900-28948901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377340515	chr22:28948919-28948920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180776586	chr22:28948920-28948921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568999235	chr22:28948922-28948923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186702484	chr22:28948924-28948925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190063129	chr22:28948931-28948932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376020229	chr22:28948947-28948948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559124613	chr22:28948950-28948951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368363998	chr22:28948986-28948987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577403478	chr22:28948990-28948991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371963818	chr22:28949011-28949012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535088557	chr22:28949020-28949021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374971095	chr22:28949028-28949029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553426471	chr22:28949045-28949046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574726921	chr22:28949047-28949048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60662005	chr22:28949054-28949055	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
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28933600-28953800	Weak transcription	HSMMtube	muscle
2	chr22:28937400-28950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr22:28944600-28956000	Weak transcription	NHDF-Ad	bronchial
4	chr22:28944800-28952800	Weak transcription	Fetal Lung	lung

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