Variant report

Variant	esv3425588
Chromosome Location	chr22:34253377-34253948
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189600799	chr22:34253383-34253384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150573034	chr22:34253388-34253389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1002048	chr22:34253393-34253394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569019022	chr22:34253399-34253400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538002937	chr22:34253407-34253408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558352142	chr22:34253417-34253418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1002047	chr22:34253492-34253493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs369175351	chr22:34253498-34253499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534489243	chr22:34253507-34253508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563065209	chr22:34253576-34253577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573674540	chr22:34253589-34253590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139560688	chr22:34253617-34253618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556251011	chr22:34253637-34253638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369977084	chr22:34253662-34253663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576205330	chr22:34253684-34253685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143512378	chr22:34253714-34253715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146762417	chr22:34253716-34253717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527524506	chr22:34253717-34253718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs67503539	chr22:34253757-34253758	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs143596932	chr22:34253819-34253820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145678503	chr22:34253822-34253823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568982317	chr22:34253844-34253845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531706833	chr22:34253908-34253909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551615404	chr22:34253913-34253914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181095340	chr22:34253931-34253932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186037793	chr22:34253934-34253935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554434107	chr22:34253948-34253949	Weak transcription Enhancers	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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34247800-34263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr22:34250000-34254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr22:34250000-34254000	Weak transcription	Spleen	Spleen
4	chr22:34250000-34256600	Weak transcription	Lung	lung
5	chr22:34250000-34256600	Weak transcription	Pancreas	Pancrea
6	chr22:34250000-34256800	Weak transcription	Gastric	stomach
7	chr22:34250000-34260400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34250000-34261000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:34250200-34255600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr22:34250200-34256600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:34250200-34256800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:34250400-34255400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr22:34250400-34256600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:34250400-34256600	Weak transcription	Right Atrium	heart
15	chr22:34250600-34255600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr22:34250600-34257200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:34250600-34260000	Weak transcription	Fetal Intestine Small	intestine
18	chr22:34250600-34260400	Weak transcription	NHLF	lung
19	chr22:34250600-34260600	Weak transcription	Colon Smooth Muscle	Colon
20	chr22:34250800-34255400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:34250800-34255400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr22:34250800-34255600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr22:34250800-34255600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:34250800-34261000	Weak transcription	Fetal Brain Male	brain
25	chr22:34251000-34254000	Weak transcription	Fetal Stomach	stomach
26	chr22:34251000-34255400	Weak transcription	Brain Angular Gyrus	brain
27	chr22:34251000-34255400	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:34251000-34257000	Weak transcription	Brain Anterior Caudate	brain
29	chr22:34251000-34257200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:34251000-34259000	Weak transcription	Fetal Intestine Large	intestine
31	chr22:34251000-34259200	Weak transcription	GM12878-XiMat	blood
32	chr22:34251000-34260400	Weak transcription	Brain Substantia Nigra	brain
33	chr22:34251000-34260400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:34251000-34269200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr22:34251200-34268000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:34251600-34255600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr22:34251600-34256600	Weak transcription	Ovary	ovary
38	chr22:34251600-34256800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr22:34252000-34255400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:34252400-34253400	Enhancers	Fetal Heart	heart
41	chr22:34252400-34267600	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:34252600-34254000	Weak transcription	Left Ventricle	heart
43	chr22:34252800-34256400	Weak transcription	Right Ventricle	heart
44	chr22:34253200-34254200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr22:34253400-34255600	Weak transcription	Fetal Heart	heart

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