Variant report

Variant	nsv527285
Chromosome Location	chr11:105884085-105891599
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	BATF	chr11:105887877-105888134	GM12878	blood:	n/a	chr11:105888078-105888087
2	BATF	chr11:105887912-105888177	GM12878	blood:	n/a	chr11:105888078-105888087
3	CHD1	chr11:105890280-105890411	GM12878	blood:	n/a	n/a
4	ELK1	chr11:105891538-105891567	GM12878	blood:	n/a	n/a
5	FOS	chr11:105888840-105889172	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:105888842-105889204	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:105888867-105889171	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:105888855-105889168	MCF10A-Er-Src	breast:	n/a	n/a
9	IRF1	chr11:105891151-105891206	K562	blood:	n/a	n/a
10	IRF1	chr11:105887152-105887522	K562	blood:	n/a	chr11:105887322-105887336 chr11:105887318-105887332 chr11:105887322-105887335 chr11:105887324-105887334 chr11:105887316-105887336 chr11:105887310-105887330 chr11:105887321-105887335 chr11:105887325-105887336 chr11:105887323-105887337 chr11:105887318-105887328 chr11:105887322-105887335 chr11:105887314-105887328 chr11:105887320-105887334
11	JUN	chr11:105883272-105884096	K562	blood:	n/a	chr11:105883724-105883737
12	MAFK	chr11:105885631-105885717	HepG2	liver:	n/a	n/a
13	MEF2A	chr11:105883294-105884135	SK-N-SH	brain:	n/a	n/a
14	MYC	chr11:105890726-105890792	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr11:105888855-105889129	MCF10A-Er-Src	breast:	n/a	n/a
16	NFYB	chr11:105890013-105890078	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:105885508-105885638	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:105890614-105890959	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr11:105890973-105891421	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:105887886-105888063	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:105889851-105890250	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr11:105889841-105889881	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr11:105885646-105885659	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr11:105891242-105891245	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr11:105887965-105888058	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:105886329-105886411	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:105887049-105887063	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:105891221-105894226	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:105888907-105889536	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr11:105887948-105888030	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:105890473-105890740	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr11:105888830-105888990	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:105890081-105890467	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:105887971-105888280	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr11:105886502-105886659	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:105886945-105887256	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr11:105885207-105885282	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr11:105888909-105889182	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr11:105890253-105890546	MCF10A-Er-Src	breast:	n/a	n/a
40	TBL1XR1	chr11:105888479-105888482	GM12878	blood:	n/a	n/a
41	ZNF143	chr11:105889663-105889736	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:105889161..105891873-chr11:105905739..105908182,2	K562	blood:
2	chr11:105889494..105894632-chr11:105945234..105949346,5	K562	blood:
3	chr11:105890839..105893464-chr11:105945938..105948303,3	K562	blood:
4	chr11:105880605..105882322-chr11:105882782..105885279,2	K562	blood:
5	chr11:105884249..105887015-chr11:105888601..105891455,3	MCF-7	breast:
6	chr11:105885814..105889172-chr11:105892054..105893913,3	MCF-7	breast:
7	chr11:105879125..105881953-chr11:105887356..105891263,3	K562	blood:
8	chr11:105887466..105889548-chr11:105890648..105893882,3	K562	blood:
9	chr11:105884249..105887015-chr11:105888601..105891455,3	MCF-7	breast:

Variant related genes	Relation type
MSANTD4	TF binding region
ENSG00000149313	chromatin interactions
ENSG00000170903	chromatin interactions
ENSG00000182359	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2847182	chr11:105884085-105884086	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75772727	chr11:105884086-105884087	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140808991	chr11:105884121-105884122	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576500666	chr11:105884137-105884138	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371850133	chr11:105884175-105884176	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190078374	chr11:105884209-105884210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10895892	chr11:105884215-105884216	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs577233048	chr11:105884231-105884232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181662614	chr11:105884245-105884246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559881810	chr11:105884306-105884307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574835605	chr11:105884313-105884314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2847183	chr11:105884363-105884364	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563595135	chr11:105884374-105884375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531217761	chr11:105884378-105884379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549718139	chr11:105884405-105884406	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564855105	chr11:105884417-105884418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532209205	chr11:105884439-105884440	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547307653	chr11:105884452-105884453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2846220	chr11:105884496-105884497	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148896469	chr11:105884503-105884504	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548506136	chr11:105884514-105884515	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569923470	chr11:105884516-105884517	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537066418	chr11:105884567-105884568	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558882330	chr11:105884676-105884677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577300882	chr11:105884706-105884707	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535108965	chr11:105884725-105884726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553198897	chr11:105884755-105884756	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186495736	chr11:105884760-105884761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541981672	chr11:105884791-105884792	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115270071	chr11:105884839-105884840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575507172	chr11:105884867-105884868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543081928	chr11:105884945-105884946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190153717	chr11:105884958-105884959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374982583	chr11:105884970-105884971	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182471746	chr11:105885014-105885015	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185270275	chr11:105885035-105885036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559442448	chr11:105885040-105885041	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529922822	chr11:105885153-105885154	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548370773	chr11:105885248-105885249	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs553857216	chr11:105885344-105885345	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143567777	chr11:105885362-105885363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369209179	chr11:105885426-105885427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12288227	chr11:105885466-105885467	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537336934	chr11:105885470-105885471	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189680590	chr11:105885479-105885480	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374438961	chr11:105885485-105885486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373882678	chr11:105885508-105885509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373643290	chr11:105885660-105885661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75108628	chr11:105885671-105885672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397830664	chr11:105885675-105885676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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
Prostate cancer	18632612	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:486 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105864000-105891600	Weak transcription	Colonic Mucosa	Colon
2	chr11:105865000-105890400	Weak transcription	A549	lung
3	chr11:105865200-105891600	Weak transcription	Hela-S3	cervix
4	chr11:105871000-105892200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:105877000-105884400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr11:105877200-105886800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:105877600-105892400	Weak transcription	Spleen	Spleen
8	chr11:105877800-105892400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:105878600-105892400	Weak transcription	Stomach Mucosa	stomach
10	chr11:105880600-105891600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:105880800-105884600	Weak transcription	HepG2	liver
12	chr11:105880800-105888600	Weak transcription	Right Ventricle	heart
13	chr11:105880800-105891600	Weak transcription	Fetal Intestine Small	intestine
14	chr11:105880800-105892400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:105881400-105885600	Enhancers	Brain Substantia Nigra	brain
16	chr11:105881400-105887000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:105881400-105892000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:105881600-105884400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:105881600-105884400	Enhancers	Brain Anterior Caudate	brain
20	chr11:105881600-105885000	Weak transcription	Fetal Brain Male	brain
21	chr11:105881600-105887000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:105881600-105887000	Weak transcription	Small Intestine	intestine
23	chr11:105881600-105888200	Enhancers	Brain Hippocampus Middle	brain
24	chr11:105881600-105889800	Weak transcription	NHEK	skin
25	chr11:105881600-105890200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:105881600-105890200	Weak transcription	Fetal Kidney	kidney
27	chr11:105881600-105890200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr11:105881600-105890800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:105881600-105891600	Weak transcription	Fetal Intestine Large	intestine
30	chr11:105881600-105891800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:105881600-105892000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:105881800-105884200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:105881800-105884600	Weak transcription	Liver	Liver
34	chr11:105881800-105886200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:105881800-105887000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:105881800-105888600	Weak transcription	HMEC	breast
37	chr11:105881800-105889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr11:105881800-105889200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:105881800-105891600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:105881800-105891800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr11:105881800-105892000	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:105882000-105884200	Enhancers	Osteobl	bone
43	chr11:105882000-105886000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr11:105882000-105891800	Weak transcription	Primary B cells from cord blood	blood
45	chr11:105882000-105891800	Weak transcription	Thymus	Thymus
46	chr11:105882000-105892000	Weak transcription	Aorta	Aorta
47	chr11:105882200-105884200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:105882200-105884200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:105882200-105884800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:105882200-105885400	Weak transcription	Fetal Lung	lung

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