Variant report

Variant	esv3422513
Chromosome Location	chr22:28652702-28656200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28655568..28657867-chr22:28658148..28660781,2	K562	blood:
2	chr22:28649522..28652291-chr22:28652428..28654001,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573805529	chr22:28652717-28652718	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13056086	chr22:28652719-28652720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143066339	chr22:28652743-28652744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542231178	chr22:28652749-28652750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9613584	chr22:28652769-28652770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577894404	chr22:28652779-28652780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs5997350	chr22:28652830-28652831	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564541395	chr22:28652870-28652871	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146145762	chr22:28652986-28652987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148775120	chr22:28653011-28653012	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562411463	chr22:28653044-28653045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576161775	chr22:28653145-28653146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529608414	chr22:28653195-28653196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142423212	chr22:28653239-28653240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569386295	chr22:28653262-28653263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150876546	chr22:28653278-28653279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184085830	chr22:28653314-28653315	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs134193	chr22:28653316-28653317	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs139327120	chr22:28653379-28653380	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189072390	chr22:28653437-28653438	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567243559	chr22:28653439-28653440	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555689397	chr22:28653440-28653441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537783525	chr22:28653450-28653451	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191826455	chr22:28653606-28653607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557239845	chr22:28653610-28653611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145404099	chr22:28653615-28653616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561822062	chr22:28653630-28653631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543837924	chr22:28653728-28653729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71194758	chr22:28653766-28653767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545192125	chr22:28653797-28653798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577037627	chr22:28653888-28653889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs134194	chr22:28653899-28653900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573330499	chr22:28653920-28653921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182906520	chr22:28653973-28653974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561983276	chr22:28654009-28654010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573963753	chr22:28654037-28654038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544607002	chr22:28654080-28654081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147667644	chr22:28654090-28654091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76778283	chr22:28654101-28654102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12485046	chr22:28654116-28654117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75631417	chr22:28654143-28654144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551497858	chr22:28654166-28654167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77605181	chr22:28654185-28654186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191795923	chr22:28654201-28654202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73882717	chr22:28654219-28654220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532417074	chr22:28654232-28654233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527434694	chr22:28654241-28654242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140684882	chr22:28654322-28654323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182466967	chr22:28654411-28654412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567176795	chr22:28654446-28654447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	21509527	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
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
3	chr22:28644000-28653200	Weak transcription	NHLF	lung
4	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
5	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
7	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
8	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr22:28651600-28663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:28651800-28690600	Weak transcription	Dnd41	blood
12	chr22:28652600-28653000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:28652600-28653000	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr22:28652600-28653000	ZNF genes & repeats	Fetal Stomach	stomach
15	chr22:28652600-28653200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr22:28652600-28653200	ZNF genes & repeats	Fetal Lung	lung
17	chr22:28652600-28653600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:28653000-28664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28653000-28665000	Weak transcription	Fetal Muscle Leg	muscle
20	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
21	chr22:28653200-28655800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr22:28653200-28655800	Weak transcription	Fetal Lung	lung
23	chr22:28653600-28655800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:28653600-28656000	Weak transcription	Small Intestine	intestine
25	chr22:28654800-28656200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:28655400-28657000	Enhancers	Brain Hippocampus Middle	brain
27	chr22:28655400-28657000	Enhancers	Brain Substantia Nigra	brain
28	chr22:28655600-28656000	Enhancers	Fetal Brain Female	brain
29	chr22:28655600-28656200	Enhancers	Brain Anterior Caudate	brain
30	chr22:28655600-28656200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr22:28655600-28656800	Enhancers	Brain Cingulate Gyrus	brain
32	chr22:28655600-28656800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr22:28655600-28657000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr22:28655600-28657200	Enhancers	Colon Smooth Muscle	Colon
35	chr22:28655600-28657200	Enhancers	Fetal Heart	heart
36	chr22:28655800-28656000	Enhancers	Aorta	Aorta
37	chr22:28655800-28656200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:28655800-28656200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr22:28655800-28656400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr22:28655800-28656400	Enhancers	Fetal Lung	lung
41	chr22:28655800-28656800	Enhancers	Fetal Kidney	kidney
42	chr22:28655800-28657000	Enhancers	Adipose Nuclei	Adipose
43	chr22:28655800-28657000	Enhancers	Brain Angular Gyrus	brain
44	chr22:28655800-28657000	Enhancers	Rectal Smooth Muscle	rectum
45	chr22:28655800-28657200	Enhancers	Fetal Brain Male	brain
46	chr22:28655800-28657200	Enhancers	Ovary	ovary
47	chr22:28656000-28656800	Enhancers	Small Intestine	intestine
48	chr22:28656000-28661200	Weak transcription	Aorta	Aorta
49	chr22:28656200-28656600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:28656200-28657000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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