Variant report

Variant	esv2760207
Chromosome Location	chr11:93692312-93701588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
2	chr11:93691026..93692794-chr11:93694188..93696052,2	K562	blood:
3	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
4	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
5	chr11:93684701..93687298-chr11:93690286..93693320,3	K562	blood:
6	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:
7	chr11:93687985..93689849-chr11:93692203..93693783,2	K562	blood:
8	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:

No data

Extended variants
information (count: 261 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:261 , 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	rs565548388	chr11:93692339-93692340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2456570	chr11:93692372-93692373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572353670	chr11:93692400-93692401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187934055	chr11:93692414-93692415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112894645	chr11:93692430-93692431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372926427	chr11:93692432-93692433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7484198	chr11:93692450-93692451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576272231	chr11:93692471-93692472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532996990	chr11:93692481-93692482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562240598	chr11:93692482-93692483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191968324	chr11:93692628-93692629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185479811	chr11:93692680-93692681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559437814	chr11:93692689-93692690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189537202	chr11:93692694-93692695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577652383	chr11:93692695-93692696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192979203	chr11:93692720-93692721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111505278	chr11:93692747-93692748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141335513	chr11:93692790-93692791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184222635	chr11:93692803-93692804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143330555	chr11:93692829-93692830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370364161	chr11:93692832-93692833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531035492	chr11:93692843-93692844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549150537	chr11:93692852-93692853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568187909	chr11:93692854-93692855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2456571	chr11:93692858-93692859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547373606	chr11:93692882-93692883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74978748	chr11:93692896-93692897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566801674	chr11:93692945-93692946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7934440	chr11:93692947-93692948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549441472	chr11:93692979-93692980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150836824	chr11:93693008-93693009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12807496	chr11:93693064-93693065	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12362126	chr11:93693072-93693073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74941773	chr11:93693088-93693089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574079023	chr11:93693136-93693137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541123964	chr11:93693137-93693138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553345556	chr11:93693192-93693193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113009834	chr11:93693202-93693203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544979670	chr11:93693251-93693252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557990241	chr11:93693256-93693257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1105113	chr11:93693323-93693324	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531100504	chr11:93693384-93693385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544789255	chr11:93693393-93693394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534165387	chr11:93693394-93693395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138247372	chr11:93693404-93693405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1105114	chr11:93693511-93693512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565693536	chr11:93693519-93693520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532986852	chr11:93693547-93693548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551383732	chr11:93693590-93693591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570008645	chr11:93693611-93693612	Weak transcription	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93692000-93692800	Enhancers	Pancreas	Pancrea
2	chr11:93692200-93692600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:93692600-93694600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:93692800-93693400	Weak transcription	Pancreas	Pancrea
5	chr11:93693000-93693600	Enhancers	Fetal Muscle Leg	muscle
6	chr11:93693400-93693600	Enhancers	Pancreas	Pancrea
7	chr11:93694400-93696000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:93694600-93696400	Enhancers	HMEC	breast
9	chr11:93694600-93696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr11:93694800-93695200	Enhancers	Fetal Lung	lung
11	chr11:93694800-93695600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:93695000-93695400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:93695000-93695400	Enhancers	NHEK	skin
14	chr11:93695000-93695600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:93695000-93696800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:93695400-93695600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:93695400-93696400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:93695600-93697000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:93695800-93696400	Enhancers	K562	blood
20	chr11:93696800-93697000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:93700200-93701400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr11:93701400-93701800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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