Variant report

Variant	esv3451160
Chromosome Location	chr22:27580202-27582200
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	chr22:27576869..27580791-chr22:27581101..27584766,3	MCF-7	breast:
2	chr22:27576869..27580791-chr22:27581101..27584766,3	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6005321	chr22:27580224-27580225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527526910	chr22:27580238-27580239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374959247	chr22:27580256-27580257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549250299	chr22:27580304-27580305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141935848	chr22:27580338-27580339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567559041	chr22:27580356-27580357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376725234	chr22:27580376-27580377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117840867	chr22:27580415-27580416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9625174	chr22:27580426-27580427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550977023	chr22:27580509-27580510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569188848	chr22:27580529-27580530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539533246	chr22:27580533-27580534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193178513	chr22:27580593-27580594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148365605	chr22:27580637-27580638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534130129	chr22:27580638-27580639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555600773	chr22:27580643-27580644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9613393	chr22:27580688-27580689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185040169	chr22:27580689-27580690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143328227	chr22:27580711-27580712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556108024	chr22:27580762-27580763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552946519	chr22:27580851-27580852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577606347	chr22:27580870-27580871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545118491	chr22:27580872-27580873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560290351	chr22:27580876-27580877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376290353	chr22:27580877-27580878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189508077	chr22:27580884-27580885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560998732	chr22:27580885-27580886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181773999	chr22:27580903-27580904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535607231	chr22:27580916-27580917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183964170	chr22:27580931-27580932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201839503	chr22:27580960-27580961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12329959	chr22:27580980-27580981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs188247788	chr22:27581004-27581005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538129955	chr22:27581049-27581050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28454067	chr22:27581056-27581057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28627623	chr22:27581075-27581076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28567768	chr22:27581079-27581080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575141266	chr22:27581094-27581095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28380707	chr22:27581102-27581103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28429545	chr22:27581104-27581105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533201422	chr22:27581108-27581109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116193196	chr22:27581118-27581119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28394177	chr22:27581123-27581124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534097223	chr22:27581126-27581127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375606791	chr22:27581139-27581140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369148457	chr22:27581140-27581141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10671816	chr22:27581159-27581160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549531952	chr22:27581208-27581209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567797871	chr22:27581258-27581259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538520448	chr22:27581283-27581284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Cancer	21183584	CNVD
Breast cancer	17142309	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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27571800-27598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:27572400-27582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:27576400-27581200	Weak transcription	Fetal Brain Male	brain
4	chr22:27576800-27581600	Weak transcription	Fetal Brain Female	brain
5	chr22:27579000-27580400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:27580000-27582200	Weak transcription	Brain Germinal Matrix	brain
7	chr22:27580000-27585000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:27580400-27584800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:27581200-27583400	Enhancers	Fetal Brain Male	brain
10	chr22:27581600-27582200	Enhancers	Fetal Stomach	stomach
11	chr22:27581600-27583600	Enhancers	Fetal Brain Female	brain
12	chr22:27582000-27582200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:27582000-27583600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:27582200-27583200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:27582200-27583400	Enhancers	Brain Germinal Matrix	brain
16	chr22:27582200-27583600	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links