Variant report

Variant	esv12458
Chromosome Location	chr11:75967239-75969847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75945993..75948366-chr11:75966574..75968254,2	MCF-7	breast:
2	chr11:75962755..75964824-chr11:75969509..75971112,2	MCF-7	breast:

Extended variants
information (count: 135 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190020480	chr11:75967250-75967251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539738202	chr11:75967252-75967253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577366952	chr11:75967268-75967269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550457422	chr11:75967321-75967322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550049264	chr11:75967322-75967323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2927781	chr11:75967362-75967363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535578614	chr11:75967385-75967386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs150058870	chr11:75967386-75967387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571968998	chr11:75967419-75967420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534569764	chr11:75967420-75967421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199513447	chr11:75967437-75967438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142469694	chr11:75967441-75967442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180807727	chr11:75967452-75967453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578228982	chr11:75967454-75967455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376703012	chr11:75967462-75967463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7104908	chr11:75967463-75967464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368930355	chr11:75967469-75967470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397730720	chr11:75967471-75967472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs386755127	chr11:75967472-75967473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200533197	chr11:75967476-75967477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543685297	chr11:75967502-75967503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184918116	chr11:75967535-75967536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188165158	chr11:75967536-75967537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573859010	chr11:75967568-75967569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372055117	chr11:75967570-75967571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116128122	chr11:75967589-75967590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113267703	chr11:75967593-75967594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146669123	chr11:75967594-75967595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551795131	chr11:75967611-75967612	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs565135100	chr11:75967620-75967621	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs533293497	chr11:75967645-75967646	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs181788771	chr11:75967646-75967647	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs34753528	chr11:75967658-75967659	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs550083930	chr11:75967691-75967692	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs386755128	chr11:75967695-75967696	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs116775832	chr11:75967696-75967697	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs7106172	chr11:75967716-75967717	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565806959	chr11:75967744-75967745	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs534416414	chr11:75967761-75967762	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs75092477	chr11:75967773-75967774	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs570892194	chr11:75967780-75967781	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs537362239	chr11:75967794-75967795	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs543321855	chr11:75967799-75967800	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs557201603	chr11:75967805-75967806	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs573897807	chr11:75967818-75967819	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs116648529	chr11:75967831-75967832	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs145348295	chr11:75967833-75967834	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs10899188	chr11:75967841-75967842	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545153552	chr11:75967899-75967900	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs138020111	chr11:75967909-75967910	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75955000-75967800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:75955600-75967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:75962600-75983600	Weak transcription	Spleen	Spleen
4	chr11:75963200-75967800	Weak transcription	Fetal Lung	lung
5	chr11:75963200-75976000	Weak transcription	Right Atrium	heart
6	chr11:75964800-75967600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:75965000-75967400	Enhancers	Fetal Thymus	thymus
8	chr11:75965000-75968200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:75965200-75974000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:75965600-75967800	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:75967400-75968000	Weak transcription	Fetal Thymus	thymus
12	chr11:75967400-75968800	Enhancers	Fetal Brain Male	brain
13	chr11:75967600-75967800	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:75967600-75967800	Bivalent Enhancer	HepG2	liver
15	chr11:75967600-75968200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:75967600-75968200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:75967600-75968400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:75967600-75968600	Enhancers	Placenta	Placenta
19	chr11:75967600-75968800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:75967800-75968000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:75967800-75968000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:75967800-75968200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr11:75967800-75968200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:75967800-75968200	Enhancers	Fetal Lung	lung
25	chr11:75967800-75968200	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr11:75967800-75968400	Enhancers	Placenta Amnion	Placenta Amnion
27	chr11:75967800-75968600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:75967800-75968600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:75967800-75968600	Enhancers	Fetal Muscle Leg	muscle
30	chr11:75967800-75968800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:75967800-75968800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:75967800-75968800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:75968000-75968200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:75968000-75968200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:75968000-75968200	Enhancers	Fetal Thymus	thymus
36	chr11:75968000-75968400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:75968000-75968600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:75968000-75968800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr11:75968200-75968400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:75968200-75968400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr11:75968200-75968400	Bivalent Enhancer	HepG2	liver
42	chr11:75968200-75968400	Bivalent Enhancer	HSMMtube	muscle
43	chr11:75968400-75968600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:75968800-75970600	Weak transcription	Fetal Brain Male	brain

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