Variant report

Variant	esv1817515
Chromosome Location	chr11:93695311-93702069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 157 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs201394349	chr11:93695344-93695345	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs575287048	chr11:93695372-93695373	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs542304862	chr11:93695395-93695396	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs559841343	chr11:93695436-93695437	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs560893930	chr11:93695440-93695441	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs552859479	chr11:93695503-93695504	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs186441336	chr11:93695507-93695508	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs534027142	chr11:93695511-93695512	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546455630	chr11:93695572-93695573	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs374813960	chr11:93695573-93695574	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs369470860	chr11:93695577-93695578	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs564761607	chr11:93695637-93695638	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs532205249	chr11:93695648-93695649	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs141090576	chr11:93695670-93695671	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs374036762	chr11:93695678-93695679	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs2456564	chr11:93695682-93695683	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189690442	chr11:93695704-93695705	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs2135523	chr11:93695726-93695727	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs75844499	chr11:93695734-93695735	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536401476	chr11:93695741-93695742	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs556460773	chr11:93695763-93695764	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs534243899	chr11:93695793-93695794	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs576658463	chr11:93695817-93695818	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs372833588	chr11:93695819-93695820	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs377085676	chr11:93695822-93695823	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs61906074	chr11:93695837-93695838	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs115988638	chr11:93695841-93695842	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs77146935	chr11:93695888-93695889	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs2135524	chr11:93695895-93695896	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs373250925	chr11:93695931-93695932	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs556791575	chr11:93695945-93695946	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs527275542	chr11:93695985-93695986	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs182308292	chr11:93695986-93695987	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs554283762	chr11:93695992-93695993	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs577703797	chr11:93696097-93696098	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs572770113	chr11:93696139-93696140	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs111336518	chr11:93696140-93696141	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs138889979	chr11:93696141-93696142	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148955673	chr11:93696216-93696217	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs11020618	chr11:93696228-93696229	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530150021	chr11:93696231-93696232	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs115139034	chr11:93696232-93696233	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs75550588	chr11:93696237-93696238	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs527719388	chr11:93696238-93696239	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs552593993	chr11:93696240-93696241	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs571208065	chr11:93696252-93696253	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs375547419	chr11:93696288-93696289	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs529121391	chr11:93696307-93696308	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs538493339	chr11:93696370-93696371	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs187888216	chr11:93696377-93696378	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:17 , 50 per page) page: 1

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

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