Variant report

Variant	esv3443532
Chromosome Location	chr11:19121763-19122626
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	chr11:19121805..19124602-chr11:19137671..19139188,2	MCF-7	breast:
2	chr11:19119696..19122619-chr11:19124440..19126588,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177054	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386751232	chr11:19121768-19121769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1039515	chr11:19121769-19121770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114843784	chr11:19121770-19121771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398097395	chr11:19121771-19121772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564912565	chr11:19121788-19121789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535750564	chr11:19121789-19121790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532103490	chr11:19121794-19121795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78376263	chr11:19121814-19121815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568530835	chr11:19121902-19121903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527978179	chr11:19121937-19121938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187296641	chr11:19121950-19121951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567999283	chr11:19122012-19122013	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553908206	chr11:19122029-19122030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74830210	chr11:19122064-19122065	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75230860	chr11:19122081-19122082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565927672	chr11:19122205-19122206	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553566173	chr11:19122206-19122207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74334074	chr11:19122232-19122233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148639664	chr11:19122318-19122319	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189653187	chr11:19122349-19122350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs180903923	chr11:19122476-19122477	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142101050	chr11:19122479-19122480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554657078	chr11:19122480-19122481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370883318	chr11:19122526-19122527	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs114330127	chr11:19122534-19122535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12223284	chr11:19122590-19122591	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11025009	chr11:19122616-19122617	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19116800-19123000	Weak transcription	Rectal Mucosa Donor 31	rectum

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