Variant report

Variant	esv10302
Chromosome Location	chr11:6104402-6121639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 415 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564256358	chr11:6105801-6105802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528460178	chr11:6105860-6105861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184024814	chr11:6105862-6105863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562003164	chr11:6105878-6105879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77766543	chr11:6105896-6105897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550795038	chr11:6105909-6105910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566148672	chr11:6105922-6105923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76931901	chr11:6105944-6105945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569028805	chr11:6105983-6105984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs80354284	chr11:6106001-6106002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187492633	chr11:6106011-6106012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117138631	chr11:6106025-6106026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372984102	chr11:6106060-6106061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533758445	chr11:6106089-6106090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142853198	chr11:6106112-6106113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537343712	chr11:6106136-6106137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575067873	chr11:6106137-6106138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147014678	chr11:6106140-6106141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557234340	chr11:6106170-6106171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190424784	chr11:6106181-6106182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546010402	chr11:6106203-6106204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564583058	chr11:6106244-6106245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11040648	chr11:6106258-6106259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576749015	chr11:6106261-6106262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11040649	chr11:6106286-6106287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11040650	chr11:6106290-6106291	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11040652	chr11:6106300-6106301	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs4362124	chr11:6106312-6106313	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs372466705	chr11:6106332-6106333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11040653	chr11:6106348-6106349	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530874734	chr11:6106355-6106356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566545436	chr11:6106366-6106367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567902690	chr11:6106384-6106385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4604856	chr11:6106387-6106388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567103762	chr11:6106388-6106389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550011608	chr11:6112649-6112650	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs143831404	chr11:6112658-6112659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs111750305	chr11:6112661-6112662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs200161387	chr11:6112662-6112663	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs201718420	chr11:6112663-6112664	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs199716380	chr11:6112672-6112673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs111898235	chr11:6112681-6112682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554010824	chr11:6112698-6112699	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs565672238	chr11:6112717-6112718	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs193057238	chr11:6112724-6112725	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554388229	chr11:6112754-6112755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs184852678	chr11:6112789-6112790	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567316792	chr11:6112792-6112793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551363305	chr11:6112796-6112797	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs543463574	chr11:6112805-6112806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6105800-6106400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:6112600-6112800	Active TSS	Fetal Heart	heart
3	chr11:6112800-6117200	Weak transcription	Fetal Heart	heart
4	chr11:6114600-6115200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr11:6115000-6116000	Enhancers	Primary T cells from cord blood	blood
6	chr11:6115200-6116000	Enhancers	HUVEC	blood vessel
7	chr11:6115200-6116000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:6115200-6116200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:6115200-6116800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:6115400-6115800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:6115400-6115800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:6116000-6116200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr11:6116600-6118800	Enhancers	Placenta	Placenta
14	chr11:6117200-6118400	Enhancers	Fetal Heart	heart
15	chr11:6117400-6117600	Enhancers	Fetal Muscle Leg	muscle
16	chr11:6117400-6117800	Bivalent Enhancer	HUVEC	blood vessel
17	chr11:6117400-6118800	Enhancers	Left Ventricle	heart
18	chr11:6117600-6117800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:6117600-6118000	Enhancers	Right Ventricle	heart
20	chr11:6117600-6118600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:6118000-6118600	Enhancers	Psoas Muscle	Psoas
22	chr11:6118200-6118400	Enhancers	Fetal Muscle Leg	muscle
23	chr11:6120400-6122000	Enhancers	Primary T cells from cord blood	blood
24	chr11:6121000-6122000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:6121200-6122000	Enhancers	Monocytes-CD14+_RO01746	blood

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