Variant report

Variant	esv3369539
Chromosome Location	chr11:18565726-18567674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7934311	chr11:18565786-18565787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34646785	chr11:18565797-18565798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113213611	chr11:18565814-18565815	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142220758	chr11:18565820-18565821	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555421653	chr11:18565827-18565828	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568998674	chr11:18565859-18565860	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186923308	chr11:18565935-18565936	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190212232	chr11:18565940-18565941	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374651134	chr11:18565949-18565950	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577519473	chr11:18565964-18565965	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545248003	chr11:18565967-18565968	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563177930	chr11:18565988-18565989	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530523051	chr11:18566009-18566010	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3837379	chr11:18566021-18566022	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542384647	chr11:18566037-18566038	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560946868	chr11:18566043-18566044	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370221616	chr11:18566050-18566051	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200855646	chr11:18566131-18566132	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146073687	chr11:18566188-18566189	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546060237	chr11:18566189-18566190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148301141	chr11:18566200-18566201	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141442450	chr11:18566204-18566205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566228415	chr11:18566213-18566214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200336775	chr11:18566225-18566226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199750985	chr11:18566238-18566239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538600422	chr11:18566246-18566247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376056575	chr11:18566247-18566248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564837223	chr11:18566250-18566251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369393581	chr11:18566285-18566286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150856594	chr11:18566292-18566293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139127286	chr11:18566342-18566343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375108601	chr11:18566349-18566350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369543328	chr11:18566354-18566355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373409636	chr11:18566359-18566360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569980179	chr11:18566418-18566419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113763870	chr11:18566534-18566535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200135636	chr11:18566535-18566536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142489930	chr11:18566539-18566540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557645261	chr11:18566540-18566541	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113381173	chr11:18566542-18566543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555309141	chr11:18566543-18566544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567443386	chr11:18566553-18566554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534749105	chr11:18566563-18566564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552758643	chr11:18566567-18566568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7116220	chr11:18566589-18566590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199522841	chr11:18566599-18566600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7116316	chr11:18566617-18566618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs67156965	chr11:18566618-18566619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60959151	chr11:18566622-18566623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201656502	chr11:18566623-18566624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
small cell lung cancer	20016488	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
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549000-18576400	Weak transcription	Gastric	stomach
2	chr11:18549000-18577000	Weak transcription	Spleen	Spleen
3	chr11:18549200-18568200	Weak transcription	Lung	lung
4	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
5	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
6	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:18549400-18576000	Weak transcription	Ovary	ovary
8	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
10	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
11	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:18549600-18565800	Weak transcription	Brain Germinal Matrix	brain
14	chr11:18549600-18567600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:18549600-18568000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:18549600-18568400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:18549600-18575000	Weak transcription	Fetal Brain Female	brain
18	chr11:18549600-18575200	Weak transcription	Fetal Kidney	kidney
19	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
20	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
25	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
27	chr11:18549800-18565800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:18549800-18565800	Weak transcription	Fetal Thymus	thymus
29	chr11:18549800-18565800	Weak transcription	Right Ventricle	heart
30	chr11:18549800-18567000	Weak transcription	HUVEC	blood vessel
31	chr11:18549800-18567200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:18549800-18567800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:18549800-18568000	Weak transcription	Thymus	Thymus
34	chr11:18549800-18575000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr11:18549800-18576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:18549800-18576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:18549800-18577000	Weak transcription	Primary T cells from cord blood	blood
38	chr11:18549800-18582400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:18549800-18588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:18549800-18592000	Weak transcription	NHLF	lung
41	chr11:18549800-18594400	Weak transcription	K562	blood
42	chr11:18549800-18600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:18550400-18575200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:18550600-18591400	Weak transcription	Dnd41	blood
45	chr11:18551000-18565800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:18552600-18601400	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr11:18554000-18576000	Weak transcription	Brain Angular Gyrus	brain
48	chr11:18555800-18565800	Weak transcription	Aorta	Aorta
49	chr11:18555800-18576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:18555800-18582800	Weak transcription	NHEK	skin

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