Variant report

Variant	esv3431387
Chromosome Location	chr11:75977704-75981402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75958075..75960502-chr11:75980599..75982193,2	K562	blood:
2	chr11:75979986..75982924-chr11:75983377..75985571,2	MCF-7	breast:
3	chr11:75946538..75948469-chr11:75977431..75980028,2	K562	blood:
4	chr11:75972189..75974283-chr11:75977968..75980667,2	MCF-7	breast:

Extended variants
information (count: 172 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185897917	chr11:75977710-75977711	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs190862541	chr11:75977713-75977714	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183912196	chr11:75977717-75977718	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35063882	chr11:75977761-75977762	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7946933	chr11:75977764-75977765	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536169404	chr11:75977804-75977805	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187359195	chr11:75977832-75977833	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11236673	chr11:75977845-75977846	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541271472	chr11:75977892-75977893	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190418109	chr11:75977895-75977896	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs145925687	chr11:75977908-75977909	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543514889	chr11:75977909-75977910	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs527743920	chr11:75977956-75977957	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs543147491	chr11:75977999-75978000	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563722218	chr11:75978006-75978007	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs575589447	chr11:75978008-75978009	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35787908	chr11:75978009-75978010	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs386374204	chr11:75978015-75978016	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs386362469	chr11:75978016-75978017	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114721049	chr11:75978036-75978037	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2212436	chr11:75978049-75978050	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186974761	chr11:75978097-75978098	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561415083	chr11:75978106-75978107	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs148624765	chr11:75978108-75978109	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs12269914	chr11:75978110-75978111	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs564257917	chr11:75978144-75978145	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533064045	chr11:75978162-75978163	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs191524674	chr11:75978181-75978182	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569639106	chr11:75978195-75978196	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs535068938	chr11:75978221-75978222	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142110436	chr11:75978226-75978227	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs183024466	chr11:75978238-75978239	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534967929	chr11:75978239-75978240	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187764344	chr11:75978256-75978257	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs575098750	chr11:75978320-75978321	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531729680	chr11:75978349-75978350	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150754775	chr11:75978352-75978353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549185576	chr11:75978353-75978354	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565732011	chr11:75978354-75978355	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537553577	chr11:75978377-75978378	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs17448977	chr11:75978398-75978399	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574068656	chr11:75978424-75978425	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542701948	chr11:75978447-75978448	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559760732	chr11:75978474-75978475	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs655877	chr11:75978490-75978491	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs12289741	chr11:75978512-75978513	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs12276185	chr11:75978530-75978531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs532938673	chr11:75978568-75978569	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139135053	chr11:75978584-75978585	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs578030379	chr11:75978594-75978595	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75962600-75983600	Weak transcription	Spleen	Spleen
2	chr11:75975000-75979600	Weak transcription	Lung	lung
3	chr11:75975600-75979200	Enhancers	Fetal Muscle Leg	muscle
4	chr11:75975800-75978400	Enhancers	Placenta	Placenta
5	chr11:75976000-75978200	Enhancers	Right Atrium	heart
6	chr11:75976000-75982600	Enhancers	Adipose Nuclei	Adipose
7	chr11:75976200-75977800	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr11:75976200-75978200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr11:75976200-75978600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:75976200-75978600	Flanking Active TSS	Hela-S3	cervix
11	chr11:75976200-75979000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:75976200-75979600	Enhancers	Fetal Lung	lung
13	chr11:75976400-75978200	Enhancers	HMEC	breast
14	chr11:75976400-75978800	Enhancers	Fetal Stomach	stomach
15	chr11:75976600-75978200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:75976600-75978200	Enhancers	HSMMtube	muscle
17	chr11:75976600-75978200	Enhancers	NHEK	skin
18	chr11:75976600-75978400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:75976600-75978400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:75976600-75979200	Enhancers	Osteobl	bone
21	chr11:75976800-75978000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:75976800-75978600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:75977000-75978000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:75977000-75978000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:75977000-75978000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr11:75977000-75978000	Enhancers	A549	lung
27	chr11:75977000-75978200	Enhancers	NH-A	brain
28	chr11:75977000-75978600	Enhancers	HSMM	muscle
29	chr11:75977200-75978000	Enhancers	Colon Smooth Muscle	Colon
30	chr11:75977200-75978000	Enhancers	NHDF-Ad	bronchial
31	chr11:75977200-75978200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:75977200-75978600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:75977200-75979600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:75977400-75978200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:75977600-75977800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:75977600-75978000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:75977600-75978000	Enhancers	Left Ventricle	heart
38	chr11:75977800-75978200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr11:75978000-75978200	Enhancers	Fetal Brain Female	brain
40	chr11:75978000-75978400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:75978000-75978600	Enhancers	Fetal Muscle Trunk	muscle
42	chr11:75978000-75979400	Enhancers	Fetal Brain Male	brain
43	chr11:75978000-75981200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:75978200-75978400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:75978200-75979200	Weak transcription	Fetal Brain Female	brain
46	chr11:75978200-75980000	Weak transcription	Right Atrium	heart
47	chr11:75978200-75981000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:75978400-75978600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:75978400-75980200	Weak transcription	Placenta	Placenta
50	chr11:75978600-75979800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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