Variant report

Variant	esv3392414
Chromosome Location	chr11:102501322-102507590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 285 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:285 , 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	rs2004087	chr11:102501391-102501392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368050749	chr11:102501392-102501393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545683633	chr11:102501435-102501436	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565396510	chr11:102501437-102501438	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71465371	chr11:102501507-102501508	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs2701977	chr11:102501508-102501509	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs576441652	chr11:102501537-102501538	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs181326399	chr11:102501546-102501547	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs948138	chr11:102501665-102501666	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35962110	chr11:102501716-102501717	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141514380	chr11:102501740-102501741	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150403541	chr11:102501752-102501753	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541764267	chr11:102501767-102501768	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34541655	chr11:102501780-102501781	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185193239	chr11:102501781-102501782	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564744304	chr11:102501821-102501822	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577743678	chr11:102501834-102501835	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543428443	chr11:102501841-102501842	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375274324	chr11:102501871-102501872	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs948139	chr11:102501879-102501880	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543238895	chr11:102501913-102501914	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528977431	chr11:102502032-102502033	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11225347	chr11:102502033-102502034	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559291668	chr11:102502051-102502052	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528235627	chr11:102502068-102502069	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551283020	chr11:102502087-102502088	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571184132	chr11:102502131-102502132	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118167567	chr11:102502146-102502147	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377255948	chr11:102502174-102502175	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549895270	chr11:102502182-102502183	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145384768	chr11:102502229-102502230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545317895	chr11:102502234-102502235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188189297	chr11:102502260-102502261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555798495	chr11:102502269-102502270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs61138073	chr11:102502310-102502311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571423822	chr11:102502332-102502333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149229421	chr11:102502335-102502336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558524097	chr11:102502337-102502338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181055598	chr11:102502367-102502368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543490883	chr11:102502400-102502401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534005096	chr11:102502402-102502403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143339886	chr11:102502428-102502429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10895324	chr11:102502435-102502436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs542741109	chr11:102502469-102502470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555937142	chr11:102502476-102502477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542372454	chr11:102502517-102502518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559369932	chr11:102502570-102502571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528297657	chr11:102502579-102502580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575994709	chr11:102502580-102502581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544787400	chr11:102502635-102502636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102493800-102501600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:102496600-102501600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:102500000-102510600	Weak transcription	A549	lung
4	chr11:102500400-102501400	Enhancers	Liver	Liver
5	chr11:102500600-102501400	Enhancers	HepG2	liver
6	chr11:102500800-102501600	Weak transcription	Fetal Intestine Large	intestine
7	chr11:102501400-102502200	Flanking Active TSS	Liver	Liver
8	chr11:102501400-102502200	Flanking Active TSS	HepG2	liver
9	chr11:102501600-102502000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:102501600-102502000	Enhancers	Duodenum Mucosa	Duodenum
11	chr11:102501600-102502200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:102501600-102502200	Enhancers	Fetal Stomach	stomach
13	chr11:102501600-102502600	Enhancers	Fetal Intestine Small	intestine
14	chr11:102501600-102502800	Enhancers	Fetal Intestine Large	intestine
15	chr11:102501800-102502000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:102501800-102502000	Bivalent Enhancer	Osteobl	bone
17	chr11:102501800-102502200	Enhancers	Fetal Lung	lung
18	chr11:102501800-102502600	Enhancers	NHLF	lung
19	chr11:102502200-102502600	Enhancers	HepG2	liver
20	chr11:102502200-102509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:102502200-102510200	Weak transcription	Liver	Liver
22	chr11:102502600-102503200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:102502600-102504600	Weak transcription	HepG2	liver
24	chr11:102504800-102505000	Enhancers	HepG2	liver

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