Variant report

Variant	nsv829170
Chromosome Location	chr22:30457217-30459421
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537665426	chr22:30457262-30457263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376220717	chr22:30457312-30457313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559156155	chr22:30457324-30457325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202034894	chr22:30457343-30457344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541588087	chr22:30457361-30457362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559879281	chr22:30457380-30457381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574811483	chr22:30457413-30457414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541836380	chr22:30457416-30457417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370649234	chr22:30457431-30457432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563623354	chr22:30457460-30457461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570222200	chr22:30457489-30457490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532751429	chr22:30457559-30457560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543695033	chr22:30457577-30457578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372127825	chr22:30457589-30457590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12106543	chr22:30457604-30457605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140940900	chr22:30457616-30457617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552449882	chr22:30457631-30457632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182712822	chr22:30457636-30457637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193480	chr22:30457661-30457662	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs549324798	chr22:30457670-30457671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186612922	chr22:30457691-30457692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12628164	chr22:30457696-30457697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375491272	chr22:30457703-30457704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145867848	chr22:30457705-30457706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570335323	chr22:30457723-30457724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567040898	chr22:30457731-30457732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190973454	chr22:30457757-30457758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199628762	chr22:30457810-30457811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571099802	chr22:30457947-30457948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35485085	chr22:30457949-30457950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535217317	chr22:30457960-30457961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372627833	chr22:30457965-30457966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75247850	chr22:30457966-30457967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553532627	chr22:30457968-30457969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149019275	chr22:30458003-30458004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542224768	chr22:30458014-30458015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184019857	chr22:30458063-30458064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80174080	chr22:30458109-30458110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188908657	chr22:30458160-30458161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193063024	chr22:30458300-30458301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528297841	chr22:30458330-30458331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184238710	chr22:30458348-30458349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111346090	chr22:30458352-30458353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535951778	chr22:30458357-30458358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528197187	chr22:30458373-30458374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73883363	chr22:30458393-30458394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs193481	chr22:30458414-30458415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142506518	chr22:30458506-30458507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537076007	chr22:30458509-30458510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187429527	chr22:30458637-30458638	Active TSS Weak transcription Enhancers	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
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Cancer	20164919	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30456600-30460000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr22:30456800-30457800	Weak transcription	Fetal Intestine Small	intestine
3	chr22:30457000-30457400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:30457400-30458200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr22:30457600-30458400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr22:30457600-30458400	Enhancers	Colonic Mucosa	Colon
7	chr22:30457800-30459600	Enhancers	Fetal Intestine Small	intestine
8	chr22:30458000-30459800	Enhancers	HepG2	liver
9	chr22:30458200-30459000	Enhancers	Stomach Mucosa	stomach
10	chr22:30458400-30458600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:30458400-30458800	Enhancers	Fetal Intestine Large	intestine
12	chr22:30458400-30459400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr22:30458600-30459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:30459400-30460800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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