Variant report

Variant	nsv975976
Chromosome Location	chr11:104760747-104762142
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:1)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:104747404..104750313-chr11:104761050..104763216,2	K562	blood:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CASP12-2	chr11:104761097-104761250	NR_034070
2	lnc-CASP12-2	chr11:104761101-104761250	NR_034068
3	lnc-CASP12-2	chr11:104761101-104761250	NR_034064
4	lnc-CASP12-2	chr11:104761897-104762131	NR_034063
5	lnc-CASP12-2	chr11:104761097-104761250	NR_034071
6	lnc-CASP12-2	chr11:104761101-104761250	NR_034063
7	lnc-CASP12-2	chr11:104761097-104761250	NR_034065
8	lnc-CASP12-2	chr11:104761925-104762131	NR_034064
9	lnc-CASP12-2	chr11:104761897-104762131	NR_034070
10	lnc-CASP12-2	chr11:104761101-104761250	NR_034067
11	lnc-CASP12-2	chr11:104761097-104761250	NR_034066
12	lnc-CASP12-2	chr11:104761897-104762131	NR_034061
13	lnc-CASP12-2	chr11:104761097-104761250	NR_034061

No data

Extended variants
information (count: 69 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201797373	chr11:104760764-104760765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543860051	chr11:104760770-104760771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536992	chr11:104760807-104760808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs143894208	chr11:104760824-104760825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367780808	chr11:104760826-104760827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573953013	chr11:104760849-104760850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144500666	chr11:104760931-104760932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368102336	chr11:104760953-104760954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370673114	chr11:104760967-104760968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185039791	chr11:104761000-104761001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190540499	chr11:104761008-104761009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs635846	chr11:104761013-104761014	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530981520	chr11:104761016-104761017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181894934	chr11:104761017-104761018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148416086	chr11:104761059-104761060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142534265	chr11:104761095-104761096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs513131	chr11:104761100-104761101	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs147559331	chr11:104761106-104761107	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs553832577	chr11:104761194-104761195	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs647039	chr11:104761206-104761207	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78695806	chr11:104761222-104761223	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs113791891	chr11:104761238-104761239	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs693506	chr11:104761271-104761272	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186926415	chr11:104761275-104761276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191220340	chr11:104761308-104761309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574014119	chr11:104761323-104761324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536514908	chr11:104761331-104761332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553237806	chr11:104761332-104761333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573415815	chr11:104761342-104761343	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144540279	chr11:104761363-104761364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372197554	chr11:104761367-104761368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117528882	chr11:104761389-104761390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114248719	chr11:104761411-104761412	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544622093	chr11:104761417-104761418	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34783772	chr11:104761425-104761426	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs201240228	chr11:104761431-104761432	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs199777613	chr11:104761432-104761433	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112129329	chr11:104761433-104761434	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs112207973	chr11:104761446-104761447	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs567205168	chr11:104761448-104761449	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374664341	chr11:104761458-104761459	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs557995057	chr11:104761459-104761460	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530099689	chr11:104761460-104761461	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs546943973	chr11:104761477-104761478	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573988533	chr11:104761479-104761480	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs560183811	chr11:104761488-104761489	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs372688356	chr11:104761499-104761500	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs568453800	chr11:104761512-104761513	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs371727023	chr11:104761523-104761524	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532377473	chr11:104761541-104761542	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104744200-104761000	Weak transcription	Aorta	Aorta
2	chr11:104745600-104768600	Weak transcription	Left Ventricle	heart
3	chr11:104752800-104766200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:104754400-104768600	Weak transcription	Pancreas	Pancrea
5	chr11:104757400-104765000	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:104757600-104763400	Weak transcription	Adipose Nuclei	Adipose
7	chr11:104759600-104761800	Weak transcription	Ovary	ovary
8	chr11:104759800-104768600	Weak transcription	Lung	lung
9	chr11:104760200-104765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:104760400-104760800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:104760800-104765200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:104760800-104765200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:104761000-104762200	Strong transcription	Aorta	Aorta
14	chr11:104761400-104761600	ZNF genes & repeats	Fetal Kidney	kidney
15	chr11:104761400-104763800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:104761400-104764400	Enhancers	NHDF-Ad	bronchial
17	chr11:104761400-104765800	Enhancers	HUVEC	blood vessel
18	chr11:104761800-104762000	Enhancers	NHLF	lung
19	chr11:104761800-104762200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:104761800-104762200	Genic enhancers	Ovary	ovary
21	chr11:104761800-104762400	Enhancers	NH-A	brain
22	chr11:104762000-104762200	Enhancers	Psoas Muscle	Psoas
23	chr11:104762000-104762400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:104762000-104762400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr11:104762000-104762600	Weak transcription	NHLF	lung

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