Variant report

Variant	esv2760288
Chromosome Location	chr11:106214708-106238708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:106197475..106199987-chr11:106225998..106227793,2	K562	blood:
2	chr11:106220863..106222409-chr11:106235880..106237931,2	K562	blood:
3	chr11:106220863..106222409-chr11:106235880..106237931,2	K562	blood:

Extended variants
information (count: 295 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:295 , 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	rs17105543	chr11:106214708-106214709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17105544	chr11:106214768-106214769	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575333708	chr11:106214817-106214818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546030789	chr11:106214821-106214822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189122681	chr11:106214840-106214841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572991495	chr11:106214845-106214846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150794647	chr11:106214871-106214872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115651690	chr11:106214892-106214893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529315566	chr11:106214908-106214909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544323835	chr11:106215007-106215008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562498865	chr11:106215066-106215067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534285384	chr11:106215080-106215081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11822205	chr11:106215117-106215118	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs143975284	chr11:106215128-106215129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145944774	chr11:106215145-106215146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549345161	chr11:106215155-106215156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1396160	chr11:106215204-106215205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535513285	chr11:106215212-106215213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187185259	chr11:106215251-106215252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563533734	chr11:106215266-106215267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568861844	chr11:106215308-106215309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1396159	chr11:106215352-106215353	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs11827231	chr11:106215371-106215372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560782591	chr11:106215387-106215388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74497668	chr11:106215442-106215443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540538628	chr11:106215466-106215467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555116743	chr11:106215498-106215499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527961064	chr11:106215645-106215646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139844817	chr11:106215655-106215656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190507101	chr11:106215686-106215687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181676328	chr11:106215804-106215805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577965483	chr11:106215816-106215817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545098364	chr11:106215858-106215859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149693649	chr11:106215881-106215882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527943543	chr11:106215933-106215934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375821597	chr11:106215964-106215965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116368886	chr11:106216017-106216018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35782179	chr11:106216023-106216024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545530795	chr11:106216029-106216030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186021059	chr11:106216043-106216044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531950607	chr11:106216085-106216086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80023452	chr11:106216101-106216102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569002062	chr11:106216138-106216139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539404516	chr11:106216150-106216151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190392144	chr11:106216161-106216162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181248677	chr11:106216163-106216164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79175768	chr11:106216356-106216357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186276369	chr11:106216418-106216419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574148140	chr11:106216466-106216467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10750753	chr11:106216467-106216468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106214200-106215600	Enhancers	Fetal Brain Female	brain
2	chr11:106214400-106215400	Enhancers	Fetal Brain Male	brain
3	chr11:106214600-106215400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:106214800-106215600	Enhancers	Fetal Intestine Large	intestine
5	chr11:106214800-106215600	Enhancers	Fetal Intestine Small	intestine
6	chr11:106215000-106215400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:106215000-106215600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:106215000-106215600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:106215200-106215600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:106215200-106215600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:106215200-106215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:106215200-106215600	Enhancers	NHLF	lung
13	chr11:106215400-106216400	Weak transcription	Fetal Brain Male	brain
14	chr11:106216400-106216800	Enhancers	Fetal Brain Male	brain
15	chr11:106232600-106235400	Weak transcription	Pancreas	Pancrea
16	chr11:106234600-106235600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:106235600-106239000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:106237600-106240200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:106237600-106240600	Enhancers	NHEK	skin
20	chr11:106238000-106240200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:106238400-106241200	Enhancers	NHDF-Ad	bronchial
22	chr11:106238600-106239200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:106238600-106240600	Enhancers	HMEC	breast
24	chr11:106238600-106240800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:106238600-106241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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