Variant report

Variant	esv3400464
Chromosome Location	chr22:32687152-32691550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147236877	chr22:32687164-32687165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140699399	chr22:32687165-32687166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71184568	chr22:32687167-32687168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572314473	chr22:32687173-32687174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141378306	chr22:32687182-32687183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150797857	chr22:32687183-32687184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62241094	chr22:32687191-32687192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139167046	chr22:32687193-32687194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544133023	chr22:32687237-32687238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371346337	chr22:32687243-32687244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111668659	chr22:32687245-32687246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541009417	chr22:32687248-32687249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560937018	chr22:32687256-32687257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113630166	chr22:32687265-32687266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376112772	chr22:32687287-32687288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543530133	chr22:32687307-32687308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563390825	chr22:32687312-32687313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187009873	chr22:32687352-32687353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139427074	chr22:32687354-32687355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143983431	chr22:32687366-32687367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528777229	chr22:32687367-32687368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559877754	chr22:32687396-32687397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548627082	chr22:32687399-32687400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs5749369	chr22:32687407-32687408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs537061087	chr22:32687424-32687425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557007359	chr22:32687443-32687444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116855618	chr22:32687455-32687456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111593672	chr22:32687459-32687460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374407939	chr22:32687504-32687505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538406502	chr22:32687506-32687507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558708393	chr22:32687525-32687526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572195298	chr22:32687533-32687534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5749370	chr22:32687543-32687544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs5749371	chr22:32687583-32687584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs5749372	chr22:32687627-32687628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs5749373	chr22:32687668-32687669	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs5753926	chr22:32687680-32687681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532233882	chr22:32687688-32687689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545624594	chr22:32687705-32687706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113148251	chr22:32687758-32687759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375805373	chr22:32687768-32687769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13054175	chr22:32687780-32687781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34524170	chr22:32687814-32687815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5753927	chr22:32687817-32687818	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568680610	chr22:32687833-32687834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376216055	chr22:32687844-32687845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373299009	chr22:32687845-32687846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376850439	chr22:32687848-32687849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs66475803	chr22:32687850-32687851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369679628	chr22:32687863-32687864	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32674000-32690000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr22:32690000-32690400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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