Variant report

Variant	esv3381595
Chromosome Location	chr11:83631458-83635697
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	chr11:83629933..83631663-chr11:83638370..83639939,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs568891963	chr11:83631476-83631477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145062356	chr11:83631501-83631502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550930931	chr11:83631506-83631507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2625521	chr11:83631532-83631533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533793371	chr11:83631544-83631545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555290810	chr11:83631582-83631583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2625522	chr11:83631599-83631600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558029119	chr11:83631629-83631630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537679343	chr11:83631635-83631636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563749956	chr11:83631639-83631640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1483395	chr11:83631640-83631641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546293839	chr11:83631658-83631659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568923459	chr11:83631689-83631690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552577343	chr11:83631693-83631694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114966251	chr11:83631704-83631705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183205575	chr11:83631723-83631724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528744241	chr11:83631745-83631746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371074188	chr11:83631751-83631752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562406709	chr11:83631753-83631754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1483396	chr11:83631759-83631760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs367973170	chr11:83631762-83631763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78722552	chr11:83631830-83631831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149089745	chr11:83631858-83631859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148224446	chr11:83631899-83631900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535634201	chr11:83631924-83631925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528909570	chr11:83631946-83631947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1516625	chr11:83631999-83632000	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551065995	chr11:83632059-83632060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73508216	chr11:83632077-83632078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs527328584	chr11:83632083-83632084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186414496	chr11:83632115-83632116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567477268	chr11:83632143-83632144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191761853	chr11:83632144-83632145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556049861	chr11:83632152-83632153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2852736	chr11:83632153-83632154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs143110572	chr11:83632171-83632172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558327965	chr11:83632177-83632178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553680915	chr11:83632254-83632255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115648210	chr11:83632258-83632259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540661662	chr11:83632279-83632280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539064786	chr11:83632333-83632334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574218857	chr11:83632334-83632335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12288940	chr11:83632376-83632377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12288941	chr11:83632378-83632379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114147312	chr11:83632382-83632383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183532189	chr11:83632466-83632467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368555187	chr11:83632512-83632513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372572051	chr11:83632519-83632520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372121836	chr11:83632548-83632549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142426772	chr11:83632568-83632569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	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
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	20164920	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Developmental delay	21147756	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83608400-83634600	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:83618200-83641200	Weak transcription	Brain Anterior Caudate	brain
3	chr11:83623200-83635800	Weak transcription	Brain Substantia Nigra	brain
4	chr11:83624600-83636000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:83629800-83634200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:83629800-83661800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:83630200-83643200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:83630400-83633400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:83630400-83633400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:83630600-83632200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:83632400-83632600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:83632400-83632600	Enhancers	Liver	Liver
13	chr11:83632600-83633000	Flanking Active TSS	Liver	Liver
14	chr11:83633000-83636800	Enhancers	Liver	Liver
15	chr11:83633400-83633800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:83633400-83634600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:83634200-83634600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr11:83634600-83635400	Enhancers	Brain Hippocampus Middle	brain
19	chr11:83634600-83649400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:83634800-83635200	Enhancers	Fetal Kidney	kidney
21	chr11:83635400-83638600	Weak transcription	Brain Hippocampus Middle	brain

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