Variant report

Variant	esv3366381
Chromosome Location	chr11:48365718-48365979
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	chr11:48361908..48364233-chr11:48365831..48368223,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72896805	chr11:48365726-48365727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs186302350	chr11:48365727-48365728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72896807	chr11:48365728-48365729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143678666	chr11:48365736-48365737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536824614	chr11:48365750-48365751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75501294	chr11:48365752-48365753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7945174	chr11:48365757-48365758	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs79936816	chr11:48365771-48365772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77384456	chr11:48365789-48365790	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535891371	chr11:48365795-48365796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78054007	chr11:48365800-48365801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80248104	chr11:48365808-48365809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76233776	chr11:48365809-48365810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192219103	chr11:48365887-48365888	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73453161	chr11:48365905-48365906	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75955021	chr11:48365926-48365927	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73453166	chr11:48365953-48365954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552505365	chr11:48365955-48365956	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573210531	chr11:48365969-48365970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48363200-48366400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:48363600-48366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr11:48363600-48367000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:48363800-48366600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:48363800-48366800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:48363800-48367000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:48364800-48367400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:48365000-48366400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links