Variant report

Variant	esv3447901
Chromosome Location	chr22:31407987-31410034
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	chr22:31364474..31366749-chr22:31408252..31410827,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253352	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575482449	chr22:31408264-31408265	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112243394	chr22:31408265-31408266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544394684	chr22:31408291-31408292	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146396421	chr22:31408316-31408317	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187238256	chr22:31408342-31408343	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368140937	chr22:31408349-31408350	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545803941	chr22:31408351-31408352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559048899	chr22:31408365-31408366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191373391	chr22:31408379-31408380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12485015	chr22:31408513-31408514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371440243	chr22:31408541-31408542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112250555	chr22:31408550-31408551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532341428	chr22:31408588-31408589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548331883	chr22:31408666-31408667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183900574	chr22:31408681-31408682	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530765400	chr22:31408699-31408700	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550754290	chr22:31408724-31408725	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189466483	chr22:31408779-31408780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544137267	chr22:31408792-31408793	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs35013106	chr22:31408811-31408812	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574860808	chr22:31408834-31408835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182054379	chr22:31408835-31408836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs36082619	chr22:31408901-31408902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7289831	chr22:31408916-31408917	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs139060408	chr22:31408919-31408920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558161371	chr22:31408922-31408923	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs555483511	chr22:31408971-31408972	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377513447	chr22:31409028-31409029	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575295073	chr22:31409050-31409051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370054627	chr22:31409052-31409053	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538055746	chr22:31409125-31409126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558042790	chr22:31409198-31409199	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs5753424	chr22:31409241-31409242	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115578480	chr22:31409308-31409309	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540602034	chr22:31409312-31409313	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560816087	chr22:31409339-31409340	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572008277	chr22:31409340-31409341	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543517169	chr22:31409453-31409454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185726951	chr22:31409473-31409474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534995120	chr22:31409499-31409500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs369312632	chr22:31409539-31409540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189806743	chr22:31409575-31409576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182070669	chr22:31409602-31409603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186282600	chr22:31409605-31409606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533130162	chr22:31409705-31409706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs546626239	chr22:31409708-31409709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs555273242	chr22:31409796-31409797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566422852	chr22:31409814-31409815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529261361	chr22:31409873-31409874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568546882	chr22:31409927-31409928	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	17142309	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31409200-31409400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:31409400-31413000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:31410000-31410200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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