Variant report

Variant	esv3365615
Chromosome Location	chr22:32515098-32515621
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	22:32513817-32522138..22:32868055-32872511	K562	blood:
2	22:32012966-32043914..22:32513817-32522138	K562	blood:
3	22:31961151-31976153..22:32513817-32522138	K562	blood:
4	22:32513817-32522138..22:32740683-32750950	K562	blood:
5	22:32513817-32522138..22:32750950-32761732	H1-hESC	embryonic stem cell:	embryo
6	22:32513817-32522138..22:32860159-32865649	K562	blood:
7	22:32513817-32522138..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000230736	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000271093	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000100225	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138524316	chr22:32515111-32515112	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs113131203	chr22:32515128-32515129	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs552955255	chr22:32515147-32515148	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs572472737	chr22:32515148-32515149	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs541755019	chr22:32515149-32515150	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs539113052	chr22:32515159-32515160	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs76902427	chr22:32515226-32515227	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs188169931	chr22:32515249-32515250	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs542829274	chr22:32515264-32515265	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs543992768	chr22:32515276-32515277	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs564083036	chr22:32515279-32515280	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs141488874	chr22:32515285-32515286	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs565982230	chr22:32515353-32515354	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs146183752	chr22:32515381-32515382	Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs137921949	chr22:32515407-32515408	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs191569858	chr22:32515409-32515410	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs2413069	chr22:32515421-32515422	Enhancers	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs534572563	chr22:32515437-32515438	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs527784175	chr22:32515462-32515463	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs569564977	chr22:32515514-32515515	Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32493200-32515400	Weak transcription	Right Ventricle	heart
2	chr22:32508800-32515400	Weak transcription	Left Ventricle	heart
3	chr22:32515400-32516000	Enhancers	Left Ventricle	heart
4	chr22:32515600-32515800	Enhancers	Right Atrium	heart
5	chr22:32515600-32515800	Enhancers	Right Ventricle	heart
6	chr22:32515600-32516800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:32515600-32520000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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