Variant report

Variant	nsv588891
Chromosome Location	chr22:31420142-31428853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31427554..31430340-chr22:31475829..31478342,2	MCF-7	breast:
2	chr22:31421824..31424630-chr22:31434408..31437079,3	K562	blood:
3	chr22:31413340..31416231-chr22:31418212..31420315,2	K562	blood:

Variant related genes	Relation type
ENSG00000183963	chromatin interactions

Extended variants
information (count: 52 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35833295	chr22:31427555-31427556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs555168173	chr22:31427618-31427619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs182860587	chr22:31427708-31427709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553855624	chr22:31427790-31427791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143436307	chr22:31427824-31427825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543954441	chr22:31427858-31427859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375648933	chr22:31427862-31427863	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112533676	chr22:31427874-31427875	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534923707	chr22:31427972-31427973	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188503352	chr22:31427995-31427996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542321837	chr22:31428041-31428042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560560246	chr22:31428042-31428043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs529267145	chr22:31428048-31428049	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145843826	chr22:31428086-31428087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs562802318	chr22:31428135-31428136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs138431715	chr22:31428149-31428150	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs551978709	chr22:31428164-31428165	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367834780	chr22:31428191-31428192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs149280791	chr22:31428202-31428203	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs571987926	chr22:31428220-31428221	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78265266	chr22:31428239-31428240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs192910263	chr22:31428285-31428286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113913713	chr22:31428336-31428337	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184794055	chr22:31428349-31428350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547751578	chr22:31428396-31428397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs566510732	chr22:31428397-31428398	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141754548	chr22:31428426-31428427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576778081	chr22:31428439-31428440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535097014	chr22:31428453-31428454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555442678	chr22:31428520-31428521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568830645	chr22:31428549-31428550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537664646	chr22:31428560-31428561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144542882	chr22:31428563-31428564	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577393421	chr22:31428564-31428565	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540180076	chr22:31428566-31428567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs188053578	chr22:31428621-31428622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573986715	chr22:31428623-31428624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375500953	chr22:31428632-31428633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542611800	chr22:31428634-31428635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs563023156	chr22:31428664-31428665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531808514	chr22:31428688-31428689	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111509806	chr22:31428690-31428691	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141761891	chr22:31428691-31428692	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201389539	chr22:31428694-31428695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527885808	chr22:31428712-31428713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191375045	chr22:31428742-31428743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567814661	chr22:31428758-31428759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4600761	chr22:31428794-31428795	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56041162	chr22:31428805-31428806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548666527	chr22:31428834-31428835	Inactive region	Chromatin interactive region	1 gene(s)	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
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	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
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
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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