Variant report

Variant	nsv826071
Chromosome Location	chr11:104306259-104368241
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:
2	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
3	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
4	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
5	chr11:104331867..104333415-chr11:104336822..104339133,2	K562	blood:
6	chr11:104318241..104320528-chr11:104331933..104333593,2	K562	blood:
7	chr11:104321181..104323172-chr11:104324922..104326441,2	K562	blood:
8	chr11:104303852..104306640-chr11:104309286..104311599,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-1	chr11:104316596-104316740	ENSG00000256422

No data

Extended variants
information (count: 1817 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1817 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4755038	chr11:104306261-104306262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372485325	chr11:104306301-104306302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190816762	chr11:104306357-104306358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111928158	chr11:104306388-104306389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547740925	chr11:104306406-104306407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536975713	chr11:104306437-104306438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182998086	chr11:104306488-104306489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567506577	chr11:104306489-104306490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567764461	chr11:104306501-104306502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116495160	chr11:104306505-104306506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113815871	chr11:104306539-104306540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553103887	chr11:104306574-104306575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572722518	chr11:104306583-104306584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545682066	chr11:104312603-104312604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559458884	chr11:104312615-104312616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572759312	chr11:104312647-104312648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11226362	chr11:104312666-104312667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112374919	chr11:104312681-104312682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116175059	chr11:104312703-104312704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577780646	chr11:104312762-104312763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578192402	chr11:104312772-104312773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73611676	chr11:104312783-104312784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs185532267	chr11:104312830-104312831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2009351	chr11:104312835-104312836	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112014625	chr11:104312858-104312859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551671830	chr11:104312875-104312876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559655254	chr11:104312894-104312895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2513332	chr11:104312904-104312905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542173216	chr11:104312912-104312913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377170442	chr11:104312955-104312956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528500373	chr11:104312957-104312958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561948322	chr11:104313015-104313016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143009495	chr11:104313037-104313038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4406803	chr11:104313078-104313079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77451129	chr11:104313107-104313108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12419882	chr11:104313144-104313145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190917008	chr11:104313158-104313159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148278560	chr11:104313184-104313185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183861171	chr11:104313186-104313187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550173085	chr11:104313218-104313219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563777248	chr11:104313227-104313228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532600465	chr11:104313262-104313263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141880857	chr11:104313271-104313272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113581626	chr11:104313288-104313289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188754901	chr11:104313374-104313375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193193514	chr11:104313438-104313439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76601360	chr11:104313448-104313449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552383816	chr11:104313469-104313470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558164537	chr11:104313487-104313488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577914336	chr11:104313661-104313662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104303600-104306400	Enhancers	Fetal Heart	heart
2	chr11:104304600-104306400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:104305000-104306600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:104305200-104306400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:104305200-104306600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:104305400-104306600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:104305600-104306400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:104305600-104306400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:104312600-104313200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:104312800-104313400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:104313200-104313400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:104313400-104314400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:104313800-104314400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:104314000-104315600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr11:104314200-104314600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr11:104314200-104314600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:104314200-104314600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:104314200-104314600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:104314200-104314600	Enhancers	Fetal Lung	lung
20	chr11:104314200-104316000	Enhancers	Fetal Heart	heart
21	chr11:104314400-104315600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:104314400-104315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:104314600-104315600	Weak transcription	Fetal Lung	lung
24	chr11:104314600-104323200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:104315000-104316800	Enhancers	Stomach Mucosa	stomach
26	chr11:104315600-104315800	Enhancers	Fetal Lung	lung
27	chr11:104316000-104320200	Weak transcription	Fetal Heart	heart
28	chr11:104316800-104321400	Weak transcription	Stomach Mucosa	stomach
29	chr11:104319400-104320200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:104320200-104320600	Enhancers	Fetal Heart	heart
31	chr11:104320200-104322000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:104320600-104320800	Weak transcription	Fetal Heart	heart
33	chr11:104320800-104321800	Enhancers	Fetal Heart	heart
34	chr11:104321400-104322800	Enhancers	Stomach Mucosa	stomach
35	chr11:104321800-104322200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:104321800-104322200	Flanking Active TSS	Fetal Heart	heart
37	chr11:104322000-104322200	Enhancers	Aorta	Aorta
38	chr11:104322000-104322200	Enhancers	Ovary	ovary
39	chr11:104322000-104323200	Enhancers	NHEK	skin
40	chr11:104322000-104324000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:104322000-104324000	Enhancers	Hela-S3	cervix
42	chr11:104322000-104324000	Enhancers	HMEC	breast
43	chr11:104322200-104322800	Weak transcription	Aorta	Aorta
44	chr11:104322200-104322800	Weak transcription	Ovary	ovary
45	chr11:104322200-104323800	Enhancers	Fetal Heart	heart
46	chr11:104322200-104324000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:104322800-104323200	Weak transcription	Stomach Mucosa	stomach
48	chr11:104322800-104323600	Enhancers	Aorta	Aorta
49	chr11:104322800-104323800	Enhancers	Ovary	ovary
50	chr11:104323000-104323800	Enhancers	Muscle Satellite Cultured Cells	--

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