Variant report

Variant	nsv520242
Chromosome Location	chr22:31245745-31249333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31243631..31245647-chr22:31247241..31249117,2	K562	blood:
2	chr22:31224247..31227135-chr22:31248254..31250701,2	MCF-7	breast:
3	chr22:31245927..31247645-chr22:31251008..31252966,2	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4820028	chr22:31245745-31245746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146140088	chr22:31245802-31245803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559411218	chr22:31245833-31245834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368484248	chr22:31245852-31245853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548330489	chr22:31245876-31245877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191117879	chr22:31245898-31245899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116411881	chr22:31245917-31245918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546342333	chr22:31245943-31245944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571014474	chr22:31245981-31245982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540052932	chr22:31246015-31246016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553601073	chr22:31246030-31246031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567079710	chr22:31246058-31246059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534594934	chr22:31246135-31246136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5753346	chr22:31246170-31246171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574377492	chr22:31246180-31246181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530290855	chr22:31246200-31246201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543074891	chr22:31246279-31246280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145695204	chr22:31246294-31246295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200289164	chr22:31246310-31246311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78220368	chr22:31246374-31246375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554761900	chr22:31246377-31246378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183535725	chr22:31246380-31246381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143788094	chr22:31246398-31246399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188510006	chr22:31246449-31246450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2079220	chr22:31246452-31246453	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542201195	chr22:31246543-31246544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561884523	chr22:31246549-31246550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530935894	chr22:31246556-31246557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551060067	chr22:31246624-31246625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566471267	chr22:31246633-31246634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564592384	chr22:31246649-31246650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192867014	chr22:31246718-31246719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183180076	chr22:31246733-31246734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35644938	chr22:31246766-31246767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377062653	chr22:31246819-31246820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188305387	chr22:31246826-31246827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200876243	chr22:31246851-31246852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58463382	chr22:31246853-31246854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549662475	chr22:31246914-31246915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567686475	chr22:31246964-31246965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558583893	chr22:31246989-31246990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536671231	chr22:31246991-31246992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535036561	chr22:31247072-31247073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576567268	chr22:31247135-31247136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191098982	chr22:31247197-31247198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141460608	chr22:31247203-31247204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572995384	chr22:31247210-31247211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541715736	chr22:31247217-31247218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58883835	chr22:31247225-31247226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183696011	chr22:31247243-31247244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31238600-31251200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:31239400-31249000	Weak transcription	HSMM	muscle
3	chr22:31241000-31249000	Weak transcription	NHEK	skin
4	chr22:31241400-31248800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:31245600-31250800	Weak transcription	Hela-S3	cervix
6	chr22:31248800-31249000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:31249000-31249200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
8	chr22:31249000-31249400	ZNF genes & repeats	HSMM	muscle
9	chr22:31249000-31249400	ZNF genes & repeats	NHEK	skin
10	chr22:31249000-31250800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:31249200-31256400	Weak transcription	Brain Inferior Temporal Lobe	brain

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