Variant report

Variant	esv3321885
Chromosome Location	chr22:32727952-32732150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 300 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190212212	chr22:32727981-32727982	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs550523907	chr22:32727992-32727993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs34848421	chr22:32727995-32727996	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs570370110	chr22:32728013-32728014	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs375708036	chr22:32728023-32728024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs35704369	chr22:32728030-32728031	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs181318759	chr22:32728035-32728036	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs536166130	chr22:32728044-32728045	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs556061562	chr22:32728047-32728048	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566598866	chr22:32728067-32728068	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536014295	chr22:32728068-32728069	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs556471075	chr22:32728083-32728084	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs555998001	chr22:32728087-32728088	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs575979127	chr22:32728090-32728091	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs538552966	chr22:32728119-32728120	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs558462712	chr22:32728140-32728141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs572702374	chr22:32728193-32728194	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs538670695	chr22:32728219-32728220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs577935880	chr22:32728243-32728244	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs540668834	chr22:32728253-32728254	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs560374690	chr22:32728260-32728261	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs541676275	chr22:32728273-32728274	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs377329348	chr22:32728274-32728275	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs62239300	chr22:32728285-32728286	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs561569537	chr22:32728300-32728301	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs373792732	chr22:32728340-32728341	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs150783583	chr22:32728359-32728360	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs74330694	chr22:32728369-32728370	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs77879450	chr22:32728405-32728406	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs564436214	chr22:32728440-32728441	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs572709040	chr22:32728441-32728442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs375159819	chr22:32728442-32728443	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs186326133	chr22:32728444-32728445	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs546581914	chr22:32728472-32728473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs566524111	chr22:32728478-32728479	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs2076038	chr22:32728535-32728536	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs75681944	chr22:32728558-32728559	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs113515228	chr22:32728586-32728587	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs538460071	chr22:32728620-32728621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189947008	chr22:32728622-32728623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139148392	chr22:32728667-32728668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578225846	chr22:32728704-32728705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180713825	chr22:32728705-32728706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542738336	chr22:32728714-32728715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149948726	chr22:32728715-32728716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562585220	chr22:32728745-32728746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146037606	chr22:32728765-32728766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185241844	chr22:32728801-32728802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562678608	chr22:32728807-32728808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576076918	chr22:32728808-32728809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32716600-32728400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:32721800-32731400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:32722000-32729600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:32726600-32728400	Enhancers	HUVEC	blood vessel
5	chr22:32726800-32728200	Enhancers	Lung	lung
6	chr22:32726800-32728600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr22:32727000-32728400	Enhancers	Spleen	Spleen
8	chr22:32727200-32728200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:32727200-32728600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr22:32727600-32728400	Bivalent Enhancer	Adipose Nuclei	Adipose
11	chr22:32727600-32728400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr22:32728200-32728400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:32728200-32729400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:32728200-32729600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:32728200-32730000	Weak transcription	Lung	lung
16	chr22:32728400-32728600	Enhancers	Gastric	stomach
17	chr22:32728400-32729600	Weak transcription	Spleen	Spleen
18	chr22:32728400-32732000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:32728400-32732200	Weak transcription	HUVEC	blood vessel
20	chr22:32728600-32728800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:32728600-32729800	Weak transcription	Gastric	stomach
22	chr22:32728800-32729200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:32728800-32730800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:32729000-32731800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr22:32729200-32730400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:32729400-32732600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:32729600-32729800	Enhancers	Spleen	Spleen
28	chr22:32729600-32730000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr22:32729600-32731000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:32729800-32730000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
31	chr22:32729800-32730000	Enhancers	Fetal Kidney	kidney
32	chr22:32729800-32731200	Enhancers	Gastric	stomach
33	chr22:32730000-32730400	Enhancers	Lung	lung
34	chr22:32730000-32731400	Enhancers	Right Ventricle	heart
35	chr22:32730000-32731600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:32730200-32733200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr22:32730400-32731000	Enhancers	Fetal Heart	heart
38	chr22:32730400-32731000	Enhancers	Right Atrium	heart
39	chr22:32730400-32731200	Enhancers	Left Ventricle	heart
40	chr22:32730400-32732200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:32730800-32731000	Enhancers	Esophagus	oesophagus
42	chr22:32730800-32731000	Enhancers	Fetal Brain Female	brain
43	chr22:32730800-32732200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr22:32730800-32734600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:32731000-32732000	Weak transcription	Fetal Brain Female	brain
46	chr22:32731000-32733200	Enhancers	H1 Cell Line	embryonic stem cell
47	chr22:32731000-32737200	Weak transcription	Right Atrium	heart
48	chr22:32731000-32737400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:32731200-32732800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr22:32731200-32734600	Weak transcription	Left Ventricle	heart

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