Variant report

Variant	esv14043
Chromosome Location	chr11:36647350-36654814
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	chr11:36649743..36651991-chr11:36654545..36656846,2	MCF-7	breast:
2	chr11:36649743..36651991-chr11:36654545..36656846,2	MCF-7	breast:

Extended variants
information (count: 269 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561208748	chr11:36647355-36647356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529927399	chr11:36647362-36647363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369943145	chr11:36647376-36647377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141654530	chr11:36647410-36647411	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543115369	chr11:36647456-36647457	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376359113	chr11:36647458-36647459	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151102064	chr11:36647513-36647514	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538875147	chr11:36647522-36647523	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533438877	chr11:36647537-36647538	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187956971	chr11:36647589-36647590	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571422437	chr11:36647591-36647592	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371282994	chr11:36647592-36647593	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141031805	chr11:36647615-36647616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373449528	chr11:36647655-36647656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150280033	chr11:36647666-36647667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536534139	chr11:36647726-36647727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556862473	chr11:36647731-36647732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576515153	chr11:36647747-36647748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113867693	chr11:36647754-36647755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113657047	chr11:36647791-36647792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564939945	chr11:36647817-36647818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572194109	chr11:36647839-36647840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117722512	chr11:36647868-36647869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560709446	chr11:36647869-36647870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529736376	chr11:36647878-36647879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549805533	chr11:36647917-36647918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370079700	chr11:36647972-36647973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563606487	chr11:36648000-36648001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532139874	chr11:36648016-36648017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114224298	chr11:36648032-36648033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192432900	chr11:36648040-36648041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76982025	chr11:36648078-36648079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60156568	chr11:36648120-36648121	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs549425812	chr11:36648122-36648123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567548194	chr11:36648165-36648166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16929212	chr11:36648185-36648186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139024599	chr11:36648225-36648226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs570345004	chr11:36648227-36648228	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539209148	chr11:36648250-36648251	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559173696	chr11:36648272-36648273	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534976383	chr11:36648342-36648343	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs572713989	chr11:36648377-36648378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541119059	chr11:36648398-36648399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs184415790	chr11:36648402-36648403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115716460	chr11:36648432-36648433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140692560	chr11:36648446-36648447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553391730	chr11:36648640-36648641	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114109410	chr11:36648641-36648642	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs532251185	chr11:36648649-36648650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545723655	chr11:36648745-36648746	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
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
Gastric cancer	17908304	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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36616600-36657000	Weak transcription	Left Ventricle	heart
2	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:36630600-36649000	Weak transcription	Fetal Muscle Leg	muscle
4	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:36633600-36656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr11:36640400-36648000	Weak transcription	HSMMtube	muscle
8	chr11:36640600-36649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
10	chr11:36641400-36650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:36641400-36650600	Weak transcription	Right Ventricle	heart
12	chr11:36641400-36652600	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
14	chr11:36641400-36669600	Weak transcription	Ovary	ovary
15	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
16	chr11:36641600-36653000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:36641600-36660400	Weak transcription	Fetal Stomach	stomach
18	chr11:36642000-36650200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:36642000-36655000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:36642000-36655200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
22	chr11:36642200-36649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:36642200-36650000	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:36643200-36647800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:36646000-36652600	Enhancers	Dnd41	blood
27	chr11:36646200-36647400	Weak transcription	Pancreas	Pancrea
28	chr11:36646400-36648600	Weak transcription	Fetal Thymus	thymus
29	chr11:36646400-36677000	Weak transcription	Lung	lung
30	chr11:36646600-36648200	Weak transcription	Fetal Heart	heart
31	chr11:36647200-36650600	Enhancers	Thymus	Thymus
32	chr11:36647400-36647600	ZNF genes & repeats	Pancreas	Pancrea
33	chr11:36647600-36648600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:36647600-36648800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:36647600-36661200	Weak transcription	Pancreas	Pancrea
36	chr11:36647800-36649200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:36648000-36648800	Enhancers	HSMMtube	muscle
38	chr11:36648000-36648800	Enhancers	Osteobl	bone
39	chr11:36648000-36649400	Enhancers	HSMM	muscle
40	chr11:36648200-36648400	Flanking Active TSS	Fetal Heart	heart
41	chr11:36648200-36648600	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr11:36648400-36648600	Enhancers	Fetal Heart	heart
43	chr11:36648600-36648800	Flanking Active TSS	Fetal Heart	heart
44	chr11:36648600-36653600	Enhancers	Fetal Thymus	thymus
45	chr11:36648600-36661000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:36648800-36649200	Enhancers	Fetal Heart	heart
48	chr11:36648800-36649200	Flanking Active TSS	HSMMtube	muscle
49	chr11:36648800-36649400	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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