Variant report

Variant	nsv979610
Chromosome Location	chr22:33684704-33685804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113047429	chr22:33684719-33684720	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367621885	chr22:33684766-33684767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144033780	chr22:33684832-33684833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370109287	chr22:33684837-33684838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561935751	chr22:33684917-33684918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368131409	chr22:33684922-33684923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571705908	chr22:33684929-33684930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376924408	chr22:33684935-33684936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111962265	chr22:33684946-33684947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59433867	chr22:33684950-33684951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568728888	chr22:33684956-33684957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570888640	chr22:33684975-33684976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533480290	chr22:33684976-33684977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546991691	chr22:33685002-33685003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566877382	chr22:33685013-33685014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150991633	chr22:33685014-33685015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556648490	chr22:33685023-33685024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188464072	chr22:33685030-33685031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372395304	chr22:33685037-33685038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536877650	chr22:33685070-33685071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140829010	chr22:33685094-33685095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576829624	chr22:33685118-33685119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111472184	chr22:33685134-33685135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11913710	chr22:33685143-33685144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1962732	chr22:33685146-33685147	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370377962	chr22:33685153-33685154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572545213	chr22:33685159-33685160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567503004	chr22:33685165-33685166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142345471	chr22:33685166-33685167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553324674	chr22:33685194-33685195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1962733	chr22:33685214-33685215	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544443175	chr22:33685234-33685235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113851144	chr22:33685236-33685237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73399562	chr22:33685268-33685269	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs576530521	chr22:33685315-33685316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139155971	chr22:33685326-33685327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555694983	chr22:33685334-33685335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529354575	chr22:33685351-33685352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143144821	chr22:33685404-33685405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575654267	chr22:33685471-33685472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74345484	chr22:33685480-33685481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537367615	chr22:33685533-33685534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550455434	chr22:33685559-33685560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76030277	chr22:33685568-33685569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386820806	chr22:33685597-33685598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs741979	chr22:33685599-33685600	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567861100	chr22:33685621-33685622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11912015	chr22:33685663-33685664	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs143697142	chr22:33685673-33685674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538281527	chr22:33685679-33685680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr22:33667200-33697800	Weak transcription	Colon Smooth Muscle	Colon
4	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:33668400-33697800	Weak transcription	Brain Hippocampus Middle	brain
6	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
7	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
8	chr22:33669600-33698200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:33670400-33698200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:33670600-33685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:33670600-33699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:33671400-33688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:33672600-33711800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:33672800-33686800	Strong transcription	Fetal Stomach	stomach
15	chr22:33673000-33695800	Weak transcription	Fetal Lung	lung
16	chr22:33673200-33698200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:33673200-33698200	Weak transcription	Brain Substantia Nigra	brain
18	chr22:33673200-33709600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr22:33673200-33710000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:33673400-33691200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:33673400-33726400	Weak transcription	Colonic Mucosa	Colon
22	chr22:33673400-33735000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:33673600-33690600	Weak transcription	Adipose Nuclei	Adipose
24	chr22:33673800-33700000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr22:33674200-33692200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:33674200-33695600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr22:33674400-33698200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:33674600-33688600	Weak transcription	Fetal Heart	heart
29	chr22:33675200-33696400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:33676600-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:33677200-33694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:33677200-33695600	Weak transcription	Pancreas	Pancrea
33	chr22:33677400-33698000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:33677600-33709600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr22:33679000-33692200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:33679200-33691600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:33679200-33695600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:33679200-33698000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33679200-33698200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:33679200-33698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:33679200-33709600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr22:33679400-33689000	Weak transcription	Fetal Intestine Large	intestine
43	chr22:33679400-33690600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:33679400-33694000	Weak transcription	Aorta	Aorta
45	chr22:33679400-33695600	Weak transcription	Liver	Liver
46	chr22:33679400-33698000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:33679400-33698000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:33679400-33698400	Weak transcription	Brain Angular Gyrus	brain
49	chr22:33679400-33705600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:33679400-33709800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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