Variant report

Variant	esv3495079
Chromosome Location	chr11:93694004-93703302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
2	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
3	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
4	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
5	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
6	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:

Extended variants
information (count: 266 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:266 , 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	rs528651605	chr11:93694023-93694024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540800651	chr11:93694060-93694061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559527953	chr11:93694080-93694081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371594492	chr11:93694087-93694088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533052333	chr11:93694110-93694111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551396289	chr11:93694154-93694155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569626615	chr11:93694162-93694163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541426978	chr11:93694200-93694201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369111277	chr11:93694202-93694203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552479229	chr11:93694210-93694211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546780865	chr11:93694222-93694223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147209110	chr11:93694254-93694255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140525799	chr11:93694259-93694260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76756757	chr11:93694272-93694273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375042361	chr11:93694305-93694306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184541464	chr11:93694376-93694377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546764622	chr11:93694402-93694403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149726069	chr11:93694403-93694404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374096409	chr11:93694405-93694406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544166994	chr11:93694420-93694421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538700730	chr11:93694471-93694472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577599318	chr11:93694475-93694476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189329493	chr11:93694505-93694506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556488407	chr11:93694522-93694523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144538771	chr11:93694616-93694617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148441984	chr11:93694631-93694632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564060669	chr11:93694655-93694656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142539723	chr11:93694656-93694657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12795609	chr11:93694659-93694660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181542250	chr11:93694694-93694695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146426644	chr11:93694706-93694707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563292696	chr11:93694712-93694713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75990207	chr11:93694718-93694719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551087033	chr11:93694752-93694753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371497496	chr11:93694754-93694755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187120728	chr11:93694768-93694769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77487452	chr11:93694794-93694795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574440025	chr11:93694809-93694810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541581195	chr11:93694856-93694857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546392315	chr11:93694857-93694858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140767854	chr11:93694885-93694886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549299405	chr11:93694898-93694899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569103103	chr11:93694903-93694904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72962893	chr11:93694905-93694906	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs191098016	chr11:93694913-93694914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144531041	chr11:93694918-93694919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146643987	chr11:93694920-93694921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1401180	chr11:93694951-93694952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs573507879	chr11:93695006-93695007	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs547317566	chr11:93695055-93695056	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93692600-93694600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:93694400-93696000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:93694600-93696400	Enhancers	HMEC	breast
4	chr11:93694600-93696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:93694800-93695200	Enhancers	Fetal Lung	lung
6	chr11:93694800-93695600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:93695000-93695400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:93695000-93695400	Enhancers	NHEK	skin
9	chr11:93695000-93695600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:93695000-93696800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:93695400-93695600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr11:93695400-93696400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:93695600-93697000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:93695800-93696400	Enhancers	K562	blood
15	chr11:93696800-93697000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:93700200-93701400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:93701400-93701800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:93701800-93702000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:93702000-93703400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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