Variant report

Variant	esv1828790
Chromosome Location	chr11:108257521-108264978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108257377..108260799-chr11:108261065..108264085,3	K562	blood:
2	chr11:108257377..108260799-chr11:108261065..108264085,3	K562	blood:
3	chr11:108258568..108260799-chr11:108261985..108264085,2	K562	blood:
4	chr11:108258568..108260799-chr11:108261985..108264085,2	K562	blood:

Extended variants
information (count: 201 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534174564	chr11:108257539-108257540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546962815	chr11:108257542-108257543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568316925	chr11:108257574-108257575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140554256	chr11:108257584-108257585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557086484	chr11:108257609-108257610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190076864	chr11:108257636-108257637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149739571	chr11:108257685-108257686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568807977	chr11:108257703-108257704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537159180	chr11:108257714-108257715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553513085	chr11:108257755-108257756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572548388	chr11:108257781-108257782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537753035	chr11:108257785-108257786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60683001	chr11:108257787-108257788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs371032336	chr11:108257810-108257811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568143652	chr11:108257811-108257812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374594747	chr11:108257822-108257823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555649623	chr11:108257847-108257848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573961253	chr11:108257850-108257851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368704040	chr11:108257857-108257858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370266965	chr11:108257862-108257863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373717653	chr11:108257867-108257868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368112835	chr11:108257871-108257872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56894166	chr11:108257875-108257876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544500430	chr11:108257879-108257880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543236846	chr11:108257942-108257943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs227054	chr11:108257943-108257944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs577701881	chr11:108257944-108257945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183166414	chr11:108257950-108257951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533735225	chr11:108257991-108257992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186945494	chr11:108258035-108258036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527690704	chr11:108258038-108258039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549358826	chr11:108258039-108258040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568381467	chr11:108258043-108258044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371727040	chr11:108258064-108258065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550583816	chr11:108258134-108258135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12806251	chr11:108258154-108258155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569072299	chr11:108258230-108258231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191691679	chr11:108258235-108258236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557835623	chr11:108258361-108258362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112600857	chr11:108258405-108258406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375574728	chr11:108258423-108258424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533557940	chr11:108258514-108258515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554915572	chr11:108258539-108258540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184471	chr11:108258609-108258610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs544924300	chr11:108258635-108258636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545044490	chr11:108258636-108258637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183995290	chr11:108258665-108258666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578158182	chr11:108258712-108258713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545225343	chr11:108258775-108258776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560580244	chr11:108258823-108258824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Depressive disorder	21152026	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108239600-108260800	Weak transcription	Brain Hippocampus Middle	brain
2	chr11:108262600-108262800	Weak transcription	Left Ventricle	heart
3	chr11:108262800-108263000	Enhancers	Left Ventricle	heart
4	chr11:108263000-108265000	Weak transcription	Left Ventricle	heart
5	chr11:108263200-108264400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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