Variant report

Variant	esv3349751
Chromosome Location	chr22:32829302-32831500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32544939-32549151..22:32827003-32830758	Hela-S3	cervix:
2	22:32188129-32210582..22:32827003-32830758	GM12878	blood:
3	22:31864703-31891033..22:32827003-32830758	K562	blood:
4	22:32764253-32784733..22:32827003-32830758	K562	blood:
5	22:32170492-32188129..22:32827003-32830758	GM12878	blood:
6	22:32827003-32830758..22:33262063-33266567	Hela-S3	cervix:
7	22:31961151-31976153..22:32827003-32830758	K562	blood:
8	22:32827003-32830758..22:33452523-33459358	Hela-S3	cervix:
9	22:32740683-32750950..22:32827003-32830758	K562	blood:
10	22:32750950-32761732..22:32827003-32830758	K562	blood:
11	22:32827003-32830758..22:32860159-32865649	K562	blood:
12	22:32053085-32061138..22:32827003-32830758	GM12878	blood:
13	22:32827003-32830758..22:32868055-32872511	Hela-S3	cervix:
14	22:32012966-32043914..22:32827003-32830758	K562	blood:
15	22:32827003-32830758..22:33190123-33206921	K562	blood:
16	22:32477762-32487457..22:32827003-32830758	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100150	chromatin interactions
ENSG00000205856	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000199248	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000100234	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000100170	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181002062	chr22:32829334-32829335	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs137919355	chr22:32829342-32829343	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs570558696	chr22:32829400-32829401	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs149249088	chr22:32829423-32829424	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs371806491	chr22:32829426-32829427	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs16990449	chr22:32829480-32829481	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs16990451	chr22:32829481-32829482	Enhancers	Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183714533	chr22:32829521-32829522	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs535468590	chr22:32829546-32829547	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs555486103	chr22:32829569-32829570	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs75895911	chr22:32829578-32829579	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs371528865	chr22:32829579-32829580	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs190575030	chr22:32829588-32829589	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs35783511	chr22:32829617-32829618	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
15	rs182361477	chr22:32829628-32829629	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
16	rs578140516	chr22:32829662-32829663	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
17	rs370088977	chr22:32829678-32829679	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
18	rs371535232	chr22:32829708-32829709	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
19	rs200078784	chr22:32829753-32829754	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
20	rs540919119	chr22:32829763-32829764	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs375218735	chr22:32829772-32829773	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
22	rs369245764	chr22:32829775-32829776	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs200476593	chr22:32829800-32829801	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs573682009	chr22:32829845-32829846	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs145896215	chr22:32829846-32829847	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs186797932	chr22:32829851-32829852	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs531649151	chr22:32829915-32829916	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs35181824	chr22:32829917-32829918	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs117942518	chr22:32829924-32829925	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs564295642	chr22:32829925-32829926	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs373077991	chr22:32829931-32829932	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs8135445	chr22:32829945-32829946	Enhancers	Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191716179	chr22:32829953-32829954	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs566685486	chr22:32829969-32829970	Enhancers	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs535763687	chr22:32830045-32830046	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs548970429	chr22:32830047-32830048	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs71313128	chr22:32830069-32830070	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs36004382	chr22:32830070-32830071	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs386366004	chr22:32830084-32830085	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs62241170	chr22:32830085-32830086	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs537898570	chr22:32830091-32830092	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs557616789	chr22:32830158-32830159	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs573123988	chr22:32830159-32830160	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs181245411	chr22:32830164-32830165	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs141730836	chr22:32830219-32830220	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
46	rs10547783	chr22:32830224-32830225	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
47	rs577293391	chr22:32830291-32830292	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
48	rs534162677	chr22:32830331-32830332	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
49	rs201596225	chr22:32830361-32830362	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
50	rs540047579	chr22:32830363-32830364	Inactive region	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32829400-32830000	Enhancers	HepG2	liver

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