Variant report

Variant	nsv1038945
Chromosome Location	chr11:104223281-104302611
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
2	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
3	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
4	chr11:104236808..104240638-chr11:104241793..104243782,3	K562	blood:
5	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
6	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
7	chr11:104255184..104256827-chr11:104259492..104261329,2	K562	blood:
8	chr11:104236808..104240638-chr11:104241793..104243782,3	K562	blood:
9	chr11:104242893..104244741-chr11:104376136..104378191,2	K562	blood:
10	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
11	chr11:104255184..104256827-chr11:104259492..104261329,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDI1-3	chr11:104229401-104229723	XLOC_009266

No data

Extended variants
information (count: 1472 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1472 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201192052	chr11:104229418-104229419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs12790338	chr11:104229419-104229420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs114911954	chr11:104229525-104229526	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs186137401	chr11:104229592-104229593	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs113690258	chr11:104229597-104229598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs563197964	chr11:104229618-104229619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs576374459	chr11:104229647-104229648	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542010259	chr11:104229697-104229698	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs561977854	chr11:104229698-104229699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs34036690	chr11:104232601-104232602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148041503	chr11:104232616-104232617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543992907	chr11:104232638-104232639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375796578	chr11:104232661-104232662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189841390	chr11:104232668-104232669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2200754	chr11:104232671-104232672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2200755	chr11:104232674-104232675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546403429	chr11:104232683-104232684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560061610	chr11:104232740-104232741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368234555	chr11:104232753-104232754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552194661	chr11:104232812-104232813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571957318	chr11:104232820-104232821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73617833	chr11:104232822-104232823	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551172816	chr11:104232852-104232853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567879833	chr11:104232882-104232883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536710278	chr11:104232912-104232913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553201203	chr11:104232931-104232932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568581767	chr11:104232940-104232941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566812311	chr11:104232947-104232948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35833154	chr11:104232958-104232959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181397094	chr11:104233044-104233045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75647611	chr11:104233111-104233112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141732626	chr11:104233180-104233181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186158406	chr11:104233231-104233232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532702850	chr11:104233248-104233249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113936686	chr11:104233255-104233256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150651453	chr11:104233262-104233263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540285332	chr11:104233267-104233268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139735173	chr11:104233276-104233277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557542022	chr11:104233298-104233299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571000950	chr11:104233483-104233484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566326094	chr11:104233502-104233503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75799533	chr11:104233509-104233510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548899914	chr11:104233580-104233581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112883441	chr11:104233582-104233583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562493918	chr11:104233584-104233585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531201779	chr11:104233593-104233594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551310188	chr11:104233613-104233614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7123526	chr11:104233636-104233637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189839615	chr11:104233642-104233643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs207472288	chr11:104233754-104233755	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104232600-104233000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr11:104232800-104233400	Enhancers	Ovary	ovary
3	chr11:104233400-104234200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:104235200-104235800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:104235400-104237200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:104237200-104237400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:104238400-104239800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:104243000-104243400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:104249400-104250000	Enhancers	Fetal Heart	heart
10	chr11:104250800-104251200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:104250800-104251600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:104251000-104251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:104251000-104251600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:104251000-104252000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:104251000-104252000	Enhancers	HSMMtube	muscle
16	chr11:104251200-104251600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:104251200-104251600	Enhancers	Adipose Nuclei	Adipose
18	chr11:104256600-104257400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:104257200-104257600	Enhancers	Psoas Muscle	Psoas
20	chr11:104257200-104259000	Enhancers	Fetal Heart	heart
21	chr11:104257400-104261400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:104257600-104262800	Weak transcription	Psoas Muscle	Psoas
23	chr11:104260400-104260600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:104260600-104260800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:104260600-104263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:104260800-104261400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:104261000-104262400	Enhancers	NH-A	brain
28	chr11:104261200-104261600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr11:104261400-104261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:104261600-104264800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:104262800-104263400	Enhancers	Psoas Muscle	Psoas
32	chr11:104263200-104263400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:104263400-104264000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:104264800-104265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:104265000-104265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:104265200-104265400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:104265200-104265400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr11:104265200-104266000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr11:104265200-104267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr11:104265400-104266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:104265600-104266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:104267000-104267400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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