Variant report

Variant	esv2484190
Chromosome Location	chr11:102253337-102254883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102248264..102252607-chr11:102254187..102258026,4	K562	blood:
2	chr11:102244673..102246560-chr11:102251384..102254189,2	K562	blood:
3	chr11:102249961..102251726-chr11:102253598..102255755,2	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538667774	chr11:102253348-102253349	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558551963	chr11:102253367-102253368	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564042503	chr11:102253372-102253373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540211934	chr11:102253380-102253381	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376271620	chr11:102253381-102253382	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200357390	chr11:102253384-102253385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs510627	chr11:102253394-102253395	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs509983	chr11:102253399-102253400	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147264746	chr11:102253404-102253405	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200002787	chr11:102253406-102253407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75280830	chr11:102253446-102253447	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554756675	chr11:102253456-102253457	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574586091	chr11:102253480-102253481	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540420040	chr11:102253512-102253513	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12282486	chr11:102253554-102253555	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs532259637	chr11:102253556-102253557	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192909958	chr11:102253574-102253575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370114309	chr11:102253627-102253628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534725287	chr11:102253663-102253664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182826093	chr11:102253666-102253667	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7113906	chr11:102253670-102253671	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530279050	chr11:102253681-102253682	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7114048	chr11:102253780-102253781	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567185733	chr11:102253784-102253785	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186641638	chr11:102253807-102253808	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10625556	chr11:102253835-102253836	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368654515	chr11:102253836-102253837	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72520906	chr11:102253837-102253838	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397784509	chr11:102253838-102253839	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145797461	chr11:102253882-102253883	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568827767	chr11:102253888-102253889	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201017093	chr11:102253919-102253920	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537837740	chr11:102253968-102253969	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111250496	chr11:102253995-102253996	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529452398	chr11:102254105-102254106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554414477	chr11:102254144-102254145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574864279	chr11:102254157-102254158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549154696	chr11:102254209-102254210	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111573734	chr11:102254290-102254291	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574450467	chr11:102254300-102254301	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs117321127	chr11:102254310-102254311	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117912899	chr11:102254311-102254312	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576751184	chr11:102254336-102254337	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546103588	chr11:102254346-102254347	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545646010	chr11:102254361-102254362	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139696668	chr11:102254417-102254418	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530854133	chr11:102254495-102254496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544594921	chr11:102254536-102254537	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561255327	chr11:102254620-102254621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143262497	chr11:102254649-102254650	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Glioma	20126413	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
2	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
3	chr11:102232400-102259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:102232600-102255000	Weak transcription	Right Atrium	heart
5	chr11:102235600-102255000	Weak transcription	Right Ventricle	heart
6	chr11:102235800-102259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:102237000-102255400	Weak transcription	Aorta	Aorta
8	chr11:102237000-102263800	Weak transcription	Small Intestine	intestine
9	chr11:102239600-102259000	Weak transcription	Fetal Brain Male	brain
10	chr11:102239800-102254600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:102245400-102278000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:102245600-102253800	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr11:102245600-102255200	Strong transcription	Placenta	Placenta
14	chr11:102245600-102256600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:102245600-102258600	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:102245600-102266200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr11:102245600-102275600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:102245800-102257200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:102245800-102260400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:102245800-102260800	Strong transcription	HSMM	muscle
21	chr11:102245800-102275000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:102246000-102253800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:102246000-102255000	Weak transcription	Lung	lung
24	chr11:102246000-102255200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:102246000-102255800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:102246000-102261800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:102246000-102278400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:102246200-102253400	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:102246200-102255000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:102246200-102255000	Weak transcription	Esophagus	oesophagus
31	chr11:102246200-102255000	Weak transcription	Spleen	Spleen
32	chr11:102246200-102255400	Strong transcription	Fetal Thymus	thymus
33	chr11:102246200-102261800	Weak transcription	Gastric	stomach
34	chr11:102246200-102263800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr11:102246200-102267000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:102246200-102274400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:102246200-102281000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:102246200-102281000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:102246200-102281000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:102246800-102256800	Weak transcription	A549	lung
41	chr11:102246800-102277800	Weak transcription	Stomach Mucosa	stomach
42	chr11:102247000-102254200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:102247400-102254000	Strong transcription	HMEC	breast
44	chr11:102247400-102275400	Strong transcription	Primary B cells from cord blood	blood
45	chr11:102247600-102253400	Strong transcription	Fetal Intestine Large	intestine
46	chr11:102247600-102253600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:102247600-102253600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:102247800-102253400	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr11:102247800-102255200	Weak transcription	Pancreas	Pancrea
50	chr11:102247800-102261800	Strong transcription	Liver	Liver

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