Variant report

Variant	esv3488360
Chromosome Location	chr11:10258876-10262474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10260654..10262324-chr11:10295566..10297220,2	MCF-7	breast:
2	chr11:10253231..10255912-chr11:10256898..10258938,2	K562	blood:
3	chr11:10254716..10258095-chr11:10261173..10265097,3	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548286630	chr11:10258879-10258880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564899728	chr11:10258880-10258881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527305756	chr11:10258881-10258882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540992308	chr11:10258898-10258899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560827708	chr11:10258916-10258917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564151335	chr11:10258947-10258948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549758100	chr11:10258957-10258958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7938209	chr11:10258985-10258986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532307632	chr11:10259020-10259021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552033024	chr11:10259037-10259038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs75808749	chr11:10259045-10259046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139044365	chr11:10259060-10259061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185850469	chr11:10259061-10259062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536857682	chr11:10259068-10259069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567660525	chr11:10259072-10259073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115237948	chr11:10259102-10259103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191207159	chr11:10259107-10259108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143986684	chr11:10259125-10259126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556892098	chr11:10259159-10259160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369349261	chr11:10259169-10259170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146435966	chr11:10259209-10259210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34862029	chr11:10259212-10259213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559308280	chr11:10259219-10259220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181703979	chr11:10259223-10259224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186841182	chr11:10259259-10259260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4910108	chr11:10259286-10259287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs4910109	chr11:10259378-10259379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs192236090	chr11:10259382-10259383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559023236	chr11:10259396-10259397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140886721	chr11:10259473-10259474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563367001	chr11:10259486-10259487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183388352	chr11:10259500-10259501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551922640	chr11:10259510-10259511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559232957	chr11:10259530-10259531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528324591	chr11:10259540-10259541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186641601	chr11:10259552-10259553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375317946	chr11:10259627-10259628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189880192	chr11:10259649-10259650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536371790	chr11:10259658-10259659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550268599	chr11:10259663-10259664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572427803	chr11:10259684-10259685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541134180	chr11:10259695-10259696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143297331	chr11:10259754-10259755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs386750599	chr11:10259832-10259833	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7117478	chr11:10259834-10259835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572821895	chr11:10259842-10259843	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535327545	chr11:10259848-10259849	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554304166	chr11:10259849-10259850	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574352660	chr11:10259864-10259865	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576657882	chr11:10259894-10259895	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:10240600-10259800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:10247800-10259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:10252200-10264200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:10253000-10268200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:10254000-10259800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:10254000-10263400	Weak transcription	Ovary	ovary
8	chr11:10254000-10276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:10254400-10277400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr11:10254600-10265800	Weak transcription	Fetal Lung	lung
11	chr11:10254600-10268800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:10255600-10261600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:10255600-10261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:10255600-10268400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:10255600-10268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr11:10255600-10277200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:10255600-10279000	Weak transcription	Small Intestine	intestine
19	chr11:10255800-10266200	Weak transcription	Osteobl	bone
20	chr11:10255800-10268400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:10255800-10277400	Weak transcription	HSMM	muscle
22	chr11:10256000-10261600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:10256000-10265600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:10256000-10270800	Weak transcription	NH-A	brain
25	chr11:10256200-10262000	Weak transcription	NHDF-Ad	bronchial
26	chr11:10256400-10268400	Weak transcription	NHLF	lung
27	chr11:10256600-10263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:10256600-10269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr11:10256800-10261800	Weak transcription	NHEK	skin
30	chr11:10257200-10261400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:10257800-10261200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:10257800-10266400	Weak transcription	Fetal Stomach	stomach
33	chr11:10257800-10269000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:10258000-10266400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:10258200-10259000	Enhancers	Hela-S3	cervix
36	chr11:10258400-10259000	Enhancers	Adipose Nuclei	Adipose
37	chr11:10258400-10259200	Enhancers	A549	lung
38	chr11:10258600-10259000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:10258800-10259000	Enhancers	Left Ventricle	heart
40	chr11:10258800-10259000	Enhancers	Right Ventricle	heart
41	chr11:10258800-10261400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:10259000-10259400	Weak transcription	Left Ventricle	heart
43	chr11:10259000-10261600	Weak transcription	Hela-S3	cervix
44	chr11:10259000-10263400	Weak transcription	Adipose Nuclei	Adipose
45	chr11:10259000-10266400	Weak transcription	Right Ventricle	heart
46	chr11:10259000-10268400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:10259200-10266400	Weak transcription	Aorta	Aorta
48	chr11:10259200-10280200	Weak transcription	A549	lung
49	chr11:10259400-10260000	Enhancers	Left Ventricle	heart
50	chr11:10259400-10268200	Weak transcription	Lung	lung

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