Variant report

Variant	esv3323736
Chromosome Location	chr22:30251626-30251947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530352162	chr22:30251631-30251632	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs548643949	chr22:30251635-30251636	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140506646	chr22:30251658-30251659	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537569952	chr22:30251700-30251701	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552250711	chr22:30251715-30251716	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570557275	chr22:30251716-30251717	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs534593749	chr22:30251794-30251795	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552881795	chr22:30251797-30251798	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74868216	chr22:30251812-30251813	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11705191	chr22:30251815-30251816	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187353311	chr22:30251819-30251820	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371095604	chr22:30251839-30251840	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138763542	chr22:30251849-30251850	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191796389	chr22:30251869-30251870	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140363669	chr22:30251876-30251877	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548054776	chr22:30251879-30251880	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30248400-30254600	Weak transcription	HSMMtube	muscle
2	chr22:30250200-30253200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr22:30250200-30253200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:30251400-30251800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr22:30251400-30251800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:30251400-30252200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr22:30251400-30252400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:30251400-30252800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr22:30251600-30251800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30251600-30251800	Enhancers	Brain Anterior Caudate	brain
11	chr22:30251600-30252200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:30251600-30252400	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:30251600-30252400	Enhancers	Brain Hippocampus Middle	brain
14	chr22:30251600-30252400	Enhancers	Fetal Muscle Trunk	muscle
15	chr22:30251600-30252400	Enhancers	Psoas Muscle	Psoas
16	chr22:30251600-30252600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:30251600-30252600	Enhancers	Adipose Nuclei	Adipose
18	chr22:30251600-30252600	Enhancers	Brain Angular Gyrus	brain
19	chr22:30251600-30252600	Enhancers	Brain Substantia Nigra	brain
20	chr22:30251600-30252600	Enhancers	Fetal Muscle Leg	muscle
21	chr22:30251600-30252800	Enhancers	Left Ventricle	heart
22	chr22:30251600-30253000	Enhancers	Fetal Heart	heart
23	chr22:30251800-30252000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr22:30251800-30252200	Flanking Active TSS	Brain Anterior Caudate	brain
25	chr22:30251800-30252200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr22:30251800-30252400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr22:30251800-30252400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links