Variant report

Variant	esv3405633
Chromosome Location	chr22:34180655-34180959
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139545528	chr22:34180707-34180708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62225437	chr22:34180711-34180712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188739976	chr22:34180732-34180733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534496874	chr22:34180740-34180741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77820171	chr22:34180757-34180758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62225438	chr22:34180801-34180802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569969780	chr22:34180833-34180834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370125537	chr22:34180835-34180836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565933041	chr22:34180837-34180838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536277743	chr22:34180847-34180848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555963717	chr22:34180853-34180854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117447920	chr22:34180854-34180855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568383162	chr22:34180855-34180856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544835053	chr22:34180863-34180864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564741283	chr22:34180879-34180880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192830996	chr22:34180882-34180883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146608642	chr22:34180888-34180889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141659055	chr22:34180893-34180894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540918218	chr22:34180895-34180896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560884352	chr22:34180896-34180897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71816185	chr22:34180897-34180898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529252783	chr22:34180927-34180928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549382766	chr22:34180938-34180939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562810214	chr22:34180944-34180945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115018536	chr22:34180949-34180950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375624112	chr22:34180957-34180958	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34168000-34183800	Enhancers	Fetal Heart	heart
2	chr22:34170000-34181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr22:34176200-34185000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:34176600-34182000	Weak transcription	Right Ventricle	heart
5	chr22:34176600-34184000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:34176600-34185000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:34176800-34181400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:34177000-34204600	Weak transcription	Gastric	stomach
9	chr22:34177200-34181400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr22:34177800-34181600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr22:34177800-34185000	Weak transcription	Left Ventricle	heart
12	chr22:34178200-34180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:34178200-34181400	Weak transcription	Liver	Liver
14	chr22:34178200-34181600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:34178200-34181600	Weak transcription	NHDF-Ad	bronchial
16	chr22:34178200-34183600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:34178400-34181400	Weak transcription	Fetal Lung	lung
18	chr22:34178400-34181400	Weak transcription	Fetal Stomach	stomach
19	chr22:34178400-34181400	Weak transcription	Stomach Mucosa	stomach
20	chr22:34178400-34181400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr22:34178400-34181600	Weak transcription	Colon Smooth Muscle	Colon
22	chr22:34178400-34181800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:34178400-34183000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr22:34179200-34181400	Weak transcription	Ovary	ovary
25	chr22:34179200-34184400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:34180200-34181400	Weak transcription	GM12878-XiMat	blood
27	chr22:34180400-34186800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr22:34180800-34182400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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