Variant report

Variant	nsv555710
Chromosome Location	chr11:86947024-87001892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:87001268-87001774	K562	blood:	n/a	chr11:87001403-87001419
2	ARID3A	chr11:87001358-87001863	HepG2	liver:	n/a	chr11:87001403-87001419
3	ATF1	chr11:87001481-87001810	K562	blood:	n/a	n/a
4	ATF1	chr11:86992567-86992847	K562	blood:	n/a	n/a
5	ATF1	chr11:86977830-86978145	K562	blood:	n/a	n/a
6	ATF3	chr11:86977766-86978150	K562	blood:	n/a	n/a
7	BACH1	chr11:86950832-86950861	K562	blood:	n/a	n/a
8	CEBPB	chr11:86977825-86978102	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:86992557-86993003	MCF-7	breast:	n/a	n/a
10	CEBPB	chr11:86974570-86974776	H1-hESC	embryonic stem cell:	n/a	chr11:86974644-86974655
11	CEBPB	chr11:87001596-87001812	H1-hESC	embryonic stem cell:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
12	CEBPB	chr11:86992442-86993035	A549	lung:	n/a	n/a
13	CEBPB	chr11:87001609-87001929	HepG2	liver:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
14	CEBPB	chr11:86992591-86992884	ECC-1	luminal epithelium:	n/a	n/a
15	CEBPB	chr11:86992611-86992934	A549	lung:	n/a	n/a
16	CEBPB	chr11:86970973-86971267	K562	blood:	n/a	chr11:86971129-86971142 chr11:86971129-86971140 chr11:86971129-86971142
17	CEBPB	chr11:86992542-86992851	K562	blood:	n/a	n/a
18	CEBPB	chr11:86993291-86993456	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:86974537-86974813	HepG2	liver:	n/a	chr11:86974644-86974655
20	CEBPB	chr11:87001405-87001933	Hela-S3	cervix:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
21	CEBPB	chr11:86974061-86974261	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:86973934-86974184	K562	blood:	n/a	n/a
23	CEBPB	chr11:86992567-86992933	K562	blood:	n/a	n/a
24	CEBPB	chr11:86994770-86994961	K562	blood:	n/a	n/a
25	CEBPB	chr11:86993269-86993392	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr11:86977783-86978174	K562	blood:	n/a	n/a
27	CEBPB	chr11:86977749-86978195	K562	blood:	n/a	n/a
28	CEBPB	chr11:86974581-86974794	Hela-S3	cervix:	n/a	chr11:86974644-86974655
29	CEBPB	chr11:86977799-86978091	K562	blood:	n/a	n/a
30	CEBPB	chr11:86977736-86978248	HCT-116	colon:	n/a	n/a
31	CEBPB	chr11:86992559-86992923	IMR90	lung:	n/a	n/a
32	CEBPB	chr11:86992654-86992869	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr11:86974550-86974809	A549	lung:	n/a	chr11:86974644-86974655
34	CEBPB	chr11:86977827-86978105	MCF-7	breast:	n/a	n/a
35	CEBPB	chr11:86991276-86991459	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:87001530-87001960	K562	blood:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
37	CEBPB	chr11:86974464-86974806	IMR90	lung:	n/a	chr11:86974644-86974655
38	CEBPB	chr11:87001595-87001911	A549	lung:	n/a	chr11:87001779-87001790 chr11:87001778-87001791 chr11:87001778-87001791
39	CEBPB	chr11:86992544-86992955	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr11:86974494-86974836	K562	blood:	n/a	chr11:86974644-86974655
41	CEBPB	chr11:86977861-86978136	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr11:86947578-86947620	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:87001467-87001597	GM13976	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
44	CTCF	chr11:86978978-86979107	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr11:87001380-87001530	GM12870	blood:	n/a	n/a
46	CTCF	chr11:87001460-87001610	GM12872	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
47	CTCF	chr11:87001480-87001630	GM12865	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
48	CTCF	chr11:87001329-87001623	K562	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547
49	CTCF	chr11:86992620-86992770	HPF	lung:	n/a	n/a
50	CTCF	chr11:87001440-87001590	GM12873	blood:	n/a	chr11:87001524-87001545 chr11:87001530-87001546 chr11:87001529-87001547

No.	Distal block	Cell Line	Cell type
1	chr11:86972962..86974479-chr11:86976089..86977632,2	MCF-7	breast:
2	chr11:86996729..86999242-chr11:87005313..87006882,2	MCF-7	breast:
3	chr11:86641346..86643236-chr11:86990430..86992858,2	K562	blood:
4	chr11:86991946..86992672-chr5:176296643..176297235,2	MCF-7	breast:
5	chr11:86664855..86666701-chr11:87000839..87002926,2	MCF-7	breast:
6	chr11:86972962..86974479-chr11:86976089..86977632,2	MCF-7	breast:
7	chr11:87001464..87002001-chr7:75943410..75944161,2	K562	blood:
8	chr11:86664990..86667056-chr11:86996903..86999848,2	K562	blood:
9	chr11:86580752..86581690-chr11:87001116..87001998,4	K562	blood:
10	chr11:86166836..86167387-chr11:87001058..87001771,2	K562	blood:
11	chr11:86977540..86979356-chr11:86980303..86982155,2	MCF-7	breast:
12	chr11:86977540..86979356-chr11:86980303..86982155,2	MCF-7	breast:
13	chr11:86710137..86711956-chr11:86990366..86992245,2	MCF-7	breast:
14	chr11:86664953..86668319-chr11:86999800..87002548,3	MCF-7	breast:
15	chr11:86806619..86807569-chr11:86992272..86993052,3	MCF-7	breast:
16	chr11:86650138..86651130-chr11:87001040..87002269,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FZD4-8	chr11:86969893-86970301	NONHSAT023515

Variant related genes	Relation type
ENSG00000213287	TF binding region
ENSG00000246523	chromatin interactions
ENSG00000174804	chromatin interactions

Extended variants
information (count: 2106 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:2106 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1518386	chr11:86947024-86947025	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553456552	chr11:86947047-86947048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572568934	chr11:86947055-86947056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540315747	chr11:86947127-86947128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs510042	chr11:86947175-86947176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534146856	chr11:86947179-86947180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113313646	chr11:86947192-86947193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573668617	chr11:86947193-86947194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369925347	chr11:86947194-86947195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187939533	chr11:86947201-86947202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192370205	chr11:86947207-86947208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544987284	chr11:86947211-86947212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79607598	chr11:86947212-86947213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139109823	chr11:86947215-86947216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs188625013	chr11:86947219-86947220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79479609	chr11:86947224-86947225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567463888	chr11:86947240-86947241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11235026	chr11:86947251-86947252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78039008	chr11:86947267-86947268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549720436	chr11:86947272-86947273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192775015	chr11:86947293-86947294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539285718	chr11:86947297-86947298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78943232	chr11:86947334-86947335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138466744	chr11:86947337-86947338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535273853	chr11:86947342-86947343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149179024	chr11:86947387-86947388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184809273	chr11:86947410-86947411	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542765672	chr11:86947428-86947429	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560578027	chr11:86947456-86947457	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78273286	chr11:86947520-86947521	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117634648	chr11:86947577-86947578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565078053	chr11:86947595-86947596	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12224600	chr11:86947617-86947618	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs114745031	chr11:86947638-86947639	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369223492	chr11:86947642-86947643	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372775695	chr11:86947646-86947647	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372317079	chr11:86947697-86947698	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375838329	chr11:86947707-86947708	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138795441	chr11:86947714-86947715	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368520876	chr11:86947721-86947722	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199851725	chr11:86947734-86947735	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376499772	chr11:86947744-86947745	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199689962	chr11:86947756-86947757	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567403	chr11:86947765-86947766	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549712188	chr11:86947773-86947774	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369805928	chr11:86947793-86947794	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563685474	chr11:86947797-86947798	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532430712	chr11:86947808-86947809	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552832955	chr11:86947828-86947829	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146816925	chr11:86947846-86947847	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	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	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86936800-86949000	Weak transcription	Small Intestine	intestine
2	chr11:86943800-86950600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:86944000-86947400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:86944800-86947400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:86944800-86949600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:86945000-86952400	Weak transcription	HepG2	liver
7	chr11:86946200-86947200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:86946600-86948000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:86946800-86947800	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:86947000-86949800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:86947200-86948200	Enhancers	Rectal Smooth Muscle	rectum
12	chr11:86947400-86948000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:86947400-86948000	Enhancers	Aorta	Aorta
14	chr11:86947400-86948600	Enhancers	HUVEC	blood vessel
15	chr11:86947400-86948800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:86947400-86952000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:86947800-86948200	Enhancers	Colon Smooth Muscle	Colon
18	chr11:86948000-86949200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:86948000-86949800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:86948000-86951000	Weak transcription	Aorta	Aorta
21	chr11:86948200-86949600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:86948200-86950000	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:86948600-86949000	Weak transcription	HUVEC	blood vessel
24	chr11:86948800-86949800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:86949000-86949200	Enhancers	Small Intestine	intestine
26	chr11:86949000-86949800	Enhancers	HUVEC	blood vessel
27	chr11:86949200-86949600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:86949400-86950400	Enhancers	Osteobl	bone
29	chr11:86949600-86949800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:86949600-86950000	Enhancers	Rectal Smooth Muscle	rectum
31	chr11:86949600-86950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:86949800-86950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:86949800-86950200	Flanking Active TSS	HUVEC	blood vessel
34	chr11:86949800-86950400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:86949800-86950400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:86949800-86951200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:86950000-86950200	Enhancers	Colon Smooth Muscle	Colon
38	chr11:86950000-86951200	Enhancers	NHDF-Ad	bronchial
39	chr11:86950200-86951000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:86950200-86951400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:86950200-86951400	Enhancers	HUVEC	blood vessel
42	chr11:86950400-86951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:86951000-86951200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:86951000-86951400	Enhancers	Aorta	Aorta
45	chr11:86951200-86951400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:86951200-86951400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:86952000-86952200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:86952200-86952800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:86960400-86960600	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:86960600-86960800	Enhancers	Adipose Nuclei	Adipose

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