Variant report

Variant	esv3414303
Chromosome Location	chr11:103988742-103991840
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	chr11:103990485..103992119-chr11:103992666..103995394,2	K562	blood:

Extended variants
information (count: 177 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:177 , 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	rs189724168	chr11:103988755-103988756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577776775	chr11:103988814-103988815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs11226181	chr11:103988825-103988826	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11226182	chr11:103988862-103988863	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs573977139	chr11:103988902-103988903	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs542682169	chr11:103988928-103988929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs559372509	chr11:103988980-103988981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs11226183	chr11:103989010-103989011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528063454	chr11:103989024-103989025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs544793407	chr11:103989033-103989034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs373717486	chr11:103989034-103989035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs564954909	chr11:103989057-103989058	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs533365872	chr11:103989064-103989065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs370150054	chr11:103989128-103989129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs570055070	chr11:103989154-103989155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs11226184	chr11:103989155-103989156	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs548993260	chr11:103989160-103989161	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111365249	chr11:103989168-103989169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs1545865	chr11:103989190-103989191	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs542935944	chr11:103989213-103989214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112445570	chr11:103989240-103989241	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540682288	chr11:103989257-103989258	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534980926	chr11:103989270-103989271	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557978437	chr11:103989317-103989318	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs144431352	chr11:103989346-103989347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs180806506	chr11:103989410-103989411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148493860	chr11:103989425-103989426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574016270	chr11:103989438-103989439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570682367	chr11:103989445-103989446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367860653	chr11:103989446-103989447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146822671	chr11:103989448-103989449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185254779	chr11:103989480-103989481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55703886	chr11:103989481-103989482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572761493	chr11:103989487-103989488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544944736	chr11:103989500-103989501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112383374	chr11:103989503-103989504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71037214	chr11:103989508-103989509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs111504854	chr11:103989509-103989510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183095306	chr11:103989512-103989513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537770166	chr11:103989516-103989517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7342218	chr11:103989537-103989538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542007133	chr11:103989565-103989566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372824047	chr11:103989575-103989576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553079880	chr11:103989579-103989580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368172223	chr11:103989587-103989588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113351150	chr11:103989628-103989629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375971822	chr11:103989645-103989646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201929907	chr11:103989653-103989654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187273414	chr11:103989683-103989684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191725718	chr11:103989715-103989716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	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
low-grade B-cell lymphoma tumor	18367492	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
Melanoma	17363583	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
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103976200-103992800	Weak transcription	Aorta	Aorta
2	chr11:103982200-103993000	Weak transcription	Ovary	ovary
3	chr11:103988400-103988800	Weak transcription	Fetal Heart	heart
4	chr11:103988800-103989400	ZNF genes & repeats	Fetal Heart	heart
5	chr11:103989400-103994600	Weak transcription	Fetal Heart	heart
6	chr11:103990800-103991400	Enhancers	A549	lung
7	chr11:103990800-103996000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:103990800-103996200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:103990800-103996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:103991000-103994600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:103991200-103991800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:103991200-103992000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:103991200-103994200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:103991400-103991600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:103991400-103991600	Enhancers	Pancreas	Pancrea
16	chr11:103991400-103991800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:103991400-103991800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr11:103991400-103991800	Enhancers	Fetal Intestine Large	intestine
19	chr11:103991400-103991800	Enhancers	Fetal Intestine Small	intestine
20	chr11:103991400-103992000	Enhancers	Brain Hippocampus Middle	brain
21	chr11:103991400-103992200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:103991400-103992200	Flanking Active TSS	A549	lung
23	chr11:103991400-103992800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:103991400-103995200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:103991600-103992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr11:103991600-103992200	Enhancers	Brain Germinal Matrix	brain
27	chr11:103991600-103993000	Weak transcription	Pancreas	Pancrea
28	chr11:103991800-103992000	Enhancers	Fetal Brain Female	brain
29	chr11:103991800-103993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:103991800-103995800	Weak transcription	H9 Cell Line	embryonic stem cell

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