Variant report

Variant	esv3456088
Chromosome Location	chr22:32403767-32405236
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	22:32360288-32405313..22:32860159-32865649	K562	blood:
2	22:32360288-32405313..22:32750950-32761732	K562	blood:
3	22:32360288-32405313..22:32764253-32784733	K562	blood:
4	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32740683-32750950	K562	blood:
6	22:32360288-32405313..22:32868055-32872511	K562	blood:
7	22:32012966-32043914..22:32360288-32405313	K562	blood:

Variant related genes	Relation type
ENSG00000185666	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000271093	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147185623	chr22:32403774-32403775	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs74450300	chr22:32403780-32403781	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs182246306	chr22:32403830-32403831	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs574985658	chr22:32403854-32403855	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs544228184	chr22:32403866-32403867	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs557577573	chr22:32403879-32403880	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs115856389	chr22:32403893-32403894	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs367734605	chr22:32403971-32403972	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs540167531	chr22:32404010-32404011	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs560348761	chr22:32404013-32404014	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs529148789	chr22:32404149-32404150	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs116283851	chr22:32404152-32404153	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs563008436	chr22:32404229-32404230	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs370472275	chr22:32404329-32404330	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs57915457	chr22:32404335-32404336	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs116941748	chr22:32404361-32404362	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs186770341	chr22:32404363-32404364	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs188782431	chr22:32404374-32404375	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs201645763	chr22:32404393-32404394	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs199947115	chr22:32404397-32404398	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs556347947	chr22:32404408-32404409	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs370532681	chr22:32404434-32404435	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs201292800	chr22:32404466-32404467	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs541813558	chr22:32404480-32404481	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs527642031	chr22:32404533-32404534	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs138598375	chr22:32404536-32404537	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs567615300	chr22:32404552-32404553	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs541506066	chr22:32404559-32404560	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs536488283	chr22:32404568-32404569	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs181536716	chr22:32404576-32404577	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs61699774	chr22:32404588-32404589	Inactive region	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368161207	chr22:32404611-32404612	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs56838383	chr22:32404637-32404638	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs11913545	chr22:32404665-32404666	Inactive region	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs185660966	chr22:32404676-32404677	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs533779941	chr22:32404693-32404694	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs554152191	chr22:32404705-32404706	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs541745716	chr22:32404739-32404740	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs542873856	chr22:32404788-32404789	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs562695992	chr22:32404865-32404866	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs576149998	chr22:32404876-32404877	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs574840636	chr22:32404977-32404978	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs545180038	chr22:32405036-32405037	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs9619243	chr22:32405042-32405043	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs9619244	chr22:32405055-32405056	Inactive region	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527729875	chr22:32405121-32405122	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs547759467	chr22:32405158-32405159	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs561280725	chr22:32405179-32405180	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs5998205	chr22:32405215-32405216	Inactive region	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs34687854	chr22:32405222-32405223	Inactive region	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Acute myeloid leukemia	20729466	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	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD
Breast cancer	22522925	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	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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