Variant report

Variant	esv3356375
Chromosome Location	chr11:102699042-102700590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr11:102699984-102700184	GM12878	blood:	n/a	chr11:102700092-102700103
2	MAFK	chr11:102700544-102700770	HepG2	liver:	n/a	chr11:102700682-102700698 chr11:102700682-102700697 chr11:102700687-102700698
3	MAFK	chr11:102700562-102700826	HepG2	liver:	n/a	chr11:102700682-102700698 chr11:102700682-102700697 chr11:102700687-102700698
4	MAZ	chr11:102700588-102700684	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:102699366-102699374	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT1	chr11:102700300-102700747	Hela-S3	cervix:	n/a	chr11:102700501-102700512

Variant related genes	Relation type
WTAPP1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150478096	chr11:102699059-102699060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573403218	chr11:102699084-102699085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186787425	chr11:102699095-102699096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138344739	chr11:102699101-102699102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191445391	chr11:102699129-102699130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183262187	chr11:102699221-102699222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188860303	chr11:102699257-102699258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551262046	chr11:102699331-102699332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193280784	chr11:102699353-102699354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555541124	chr11:102699375-102699376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs593844	chr11:102699380-102699381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372605419	chr11:102699382-102699383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530249327	chr11:102699395-102699396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575472099	chr11:102699401-102699402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1147001	chr11:102699415-102699416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544920093	chr11:102699416-102699417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538130196	chr11:102699453-102699454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7946057	chr11:102699460-102699461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs481465	chr11:102699462-102699463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561494216	chr11:102699483-102699484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs480711	chr11:102699498-102699499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185106400	chr11:102699505-102699506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149191488	chr11:102699506-102699507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146856434	chr11:102699509-102699510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs480561	chr11:102699516-102699517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573482095	chr11:102699536-102699537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1147005	chr11:102699546-102699547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200702979	chr11:102699555-102699556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201337317	chr11:102699556-102699557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371251202	chr11:102699559-102699560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374161397	chr11:102699560-102699561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62636417	chr11:102699566-102699567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553790335	chr11:102699580-102699581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554857081	chr11:102699585-102699586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111211334	chr11:102699598-102699599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67675000	chr11:102699607-102699608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542785986	chr11:102699611-102699612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368645257	chr11:102699613-102699614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62646356	chr11:102699630-102699631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10688763	chr11:102699644-102699645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574656968	chr11:102699648-102699649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533954224	chr11:102699660-102699661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372663349	chr11:102699689-102699690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148184578	chr11:102699708-102699709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573366142	chr11:102699733-102699734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545532484	chr11:102699737-102699738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558635640	chr11:102699770-102699771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201226106	chr11:102699809-102699810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376061138	chr11:102699811-102699812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575605939	chr11:102699827-102699828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102690800-102700800	Weak transcription	Stomach Mucosa	stomach
2	chr11:102695400-102700200	Weak transcription	NHDF-Ad	bronchial
3	chr11:102695800-102700200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:102696200-102700000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:102697200-102701400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:102699800-102701000	Enhancers	Adipose Nuclei	Adipose
7	chr11:102700000-102700200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:102700000-102700400	Enhancers	Fetal Brain Female	brain
9	chr11:102700000-102700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:102700000-102700600	Enhancers	NHEK	skin
11	chr11:102700000-102700800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:102700000-102700800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:102700000-102700800	Enhancers	Brain Germinal Matrix	brain
14	chr11:102700000-102701000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:102700000-102701400	Enhancers	HMEC	breast
16	chr11:102700000-102701600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:102700000-102702200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:102700000-102702200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:102700200-102700400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:102700200-102700600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:102700200-102700800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:102700200-102701000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:102700200-102701400	Enhancers	NHDF-Ad	bronchial
24	chr11:102700200-102701600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:102700400-102700600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr11:102700400-102700600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:102700400-102700600	Enhancers	Placenta	Placenta
28	chr11:102700400-102700800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:102700400-102700800	Enhancers	Fetal Brain Male	brain

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