Variant report

Variant	nsv962867
Chromosome Location	chr22:28595811-28611386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 524 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552126977	chr22:28595862-28595863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570540988	chr22:28595898-28595899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534970155	chr22:28595948-28595949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35973899	chr22:28595959-28595960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192900660	chr22:28595997-28595998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558614551	chr22:28596043-28596044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113264025	chr22:28596149-28596150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35447997	chr22:28596185-28596186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535632699	chr22:28596204-28596205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12160801	chr22:28596205-28596206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559044781	chr22:28596480-28596481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189513984	chr22:28596518-28596519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529637231	chr22:28596562-28596563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549412853	chr22:28596563-28596564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181827143	chr22:28596601-28596602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557769042	chr22:28596610-28596611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572913713	chr22:28596688-28596689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565632033	chr22:28596705-28596706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146047531	chr22:28596722-28596723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74717952	chr22:28596792-28596793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573891132	chr22:28596810-28596811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544044661	chr22:28597005-28597006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541203579	chr22:28597021-28597022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138584350	chr22:28597027-28597028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530893174	chr22:28597067-28597068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183842419	chr22:28597086-28597087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564131372	chr22:28597142-28597143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528513899	chr22:28597163-28597164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116211514	chr22:28597164-28597165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375425536	chr22:28597168-28597169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568625236	chr22:28597181-28597182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529613488	chr22:28597226-28597227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550873147	chr22:28597254-28597255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149274371	chr22:28597297-28597298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539528920	chr22:28597322-28597323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557930628	chr22:28597339-28597340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537228032	chr22:28597402-28597403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370625289	chr22:28597422-28597423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566572877	chr22:28597439-28597440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188217747	chr22:28597459-28597460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555358983	chr22:28597519-28597520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181505123	chr22:28597625-28597626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544525686	chr22:28597651-28597652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9625432	chr22:28597703-28597704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375091670	chr22:28597713-28597714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376361100	chr22:28597739-28597740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555924254	chr22:28597772-28597773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577455659	chr22:28597808-28597809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545891408	chr22:28597809-28597810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200683180	chr22:28597845-28597846	Weak transcription Enhancers	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28572200-28597800	Weak transcription	Dnd41	blood
2	chr22:28577000-28603600	Weak transcription	Aorta	Aorta
3	chr22:28577800-28600400	Weak transcription	Right Atrium	heart
4	chr22:28596400-28596800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr22:28597400-28597600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:28597400-28597800	Enhancers	Brain Hippocampus Middle	brain
7	chr22:28597400-28598000	Enhancers	Brain Angular Gyrus	brain
8	chr22:28597800-28598200	Enhancers	Dnd41	blood
9	chr22:28598600-28600600	Enhancers	HUVEC	blood vessel
10	chr22:28599400-28600800	Enhancers	Fetal Heart	heart
11	chr22:28599600-28600000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr22:28599600-28600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:28599600-28600200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr22:28599600-28600200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:28599600-28600200	Enhancers	Ovary	ovary
16	chr22:28599800-28600200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:28599800-28600400	Enhancers	Colon Smooth Muscle	Colon
18	chr22:28599800-28600600	Enhancers	Right Ventricle	heart
19	chr22:28600200-28600400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr22:28600200-28600800	Enhancers	Adipose Nuclei	Adipose
21	chr22:28600200-28601800	Enhancers	Brain Germinal Matrix	brain
22	chr22:28600200-28616400	Weak transcription	Ovary	ovary
23	chr22:28600400-28600600	Enhancers	NHDF-Ad	bronchial
24	chr22:28600400-28603000	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:28600600-28602400	Weak transcription	HUVEC	blood vessel
26	chr22:28600600-28602800	Weak transcription	NHDF-Ad	bronchial
27	chr22:28602200-28602400	Enhancers	Rectal Smooth Muscle	rectum
28	chr22:28602400-28602600	Enhancers	Adipose Nuclei	Adipose
29	chr22:28602400-28603400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:28602400-28604400	Enhancers	HUVEC	blood vessel
31	chr22:28602600-28604600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr22:28602800-28603000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:28602800-28603000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:28602800-28603000	Enhancers	NHDF-Ad	bronchial
35	chr22:28602800-28604000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:28602800-28604600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr22:28603000-28603400	Weak transcription	NHDF-Ad	bronchial
38	chr22:28603000-28604000	Enhancers	Colon Smooth Muscle	Colon
39	chr22:28603000-28604400	Enhancers	NHLF	lung
40	chr22:28603000-28604600	Enhancers	NH-A	brain
41	chr22:28603000-28605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:28603200-28603600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:28603200-28604600	Enhancers	Osteobl	bone
44	chr22:28603200-28605200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:28603400-28604200	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:28603400-28604400	Enhancers	NHDF-Ad	bronchial
47	chr22:28603600-28604200	Enhancers	Aorta	Aorta
48	chr22:28603600-28604200	Enhancers	HSMM	muscle
49	chr22:28603600-28604600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:28603600-28604600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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