Variant report

Variant	nsv972932
Chromosome Location	chr11:85975617-85977888
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	MAFF	chr11:85975704-85976055	K562	blood:	n/a	n/a
2	MAFK	chr11:85975706-85976068	K562	blood:	n/a	n/a
3	POLR2A	chr11:85977858-85977974	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:85977382-85977455	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:85977828-85977837	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
EED	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561337398	chr11:85975625-85975626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530469761	chr11:85975632-85975633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190937736	chr11:85975648-85975649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564215501	chr11:85975659-85975660	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532946824	chr11:85975666-85975667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574904932	chr11:85975673-85975674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183154129	chr11:85975675-85975676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556537555	chr11:85975687-85975688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546696405	chr11:85975757-85975758	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139329857	chr11:85975767-85975768	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs79077112	chr11:85975772-85975773	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563850436	chr11:85975785-85975786	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs185889034	chr11:85975837-85975838	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529468937	chr11:85975857-85975858	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs11234598	chr11:85975893-85975894	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113753130	chr11:85975901-85975902	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs572469759	chr11:85975902-85975903	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559793511	chr11:85975937-85975938	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558250010	chr11:85975949-85975950	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149939280	chr11:85975957-85975958	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534062072	chr11:85975982-85975983	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554329449	chr11:85976089-85976090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191425873	chr11:85976143-85976144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144130093	chr11:85976163-85976164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556442185	chr11:85976211-85976212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574852067	chr11:85976224-85976225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148701591	chr11:85976227-85976228	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113980455	chr11:85976228-85976229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551913009	chr11:85976253-85976254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563994636	chr11:85976269-85976270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571631324	chr11:85976289-85976290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183635123	chr11:85976317-85976318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188166946	chr11:85976362-85976363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191340374	chr11:85976372-85976373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549260798	chr11:85976413-85976414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114244346	chr11:85976481-85976482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182421434	chr11:85976504-85976505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17817719	chr11:85976537-85976538	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs571587632	chr11:85976744-85976745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571951732	chr11:85976763-85976764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534289427	chr11:85976803-85976804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547620796	chr11:85976878-85976879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567801473	chr11:85976899-85976900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112892588	chr11:85976928-85976929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536457037	chr11:85976929-85976930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556402523	chr11:85976971-85976972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35707351	chr11:85977005-85977006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74429367	chr11:85977032-85977033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538972736	chr11:85977033-85977034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10898460	chr11:85977117-85977118	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Obesity	20622171	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85957200-85995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:85957400-85985600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:85957400-86008000	Weak transcription	Psoas Muscle	Psoas
4	chr11:85957800-85997200	Weak transcription	Colonic Mucosa	Colon
5	chr11:85957800-85999800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:85958400-85997200	Weak transcription	Brain Germinal Matrix	brain
7	chr11:85959200-85988000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:85959200-85988600	Weak transcription	Brain Angular Gyrus	brain
9	chr11:85959200-85997600	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:85959400-85995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:85960200-85985600	Weak transcription	Gastric	stomach
12	chr11:85960800-85988000	Weak transcription	Fetal Heart	heart
13	chr11:85961000-85996000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:85961000-85997000	Weak transcription	Stomach Mucosa	stomach
15	chr11:85961400-85980600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:85961400-85985800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:85961600-85998000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:85961800-85988000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:85963000-85984400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:85964000-85995000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr11:85964400-85980000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:85964400-85987600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:85965800-85976400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr11:85966000-85992000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:85966200-85976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:85966200-85991600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr11:85966400-85976400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:85966400-85976600	Strong transcription	Fetal Thymus	thymus
29	chr11:85966400-85978600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:85967000-85991600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr11:85967200-85977600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr11:85967400-85975800	Strong transcription	Primary T cells from cord blood	blood
33	chr11:85967800-85978600	Strong transcription	Placenta	Placenta
34	chr11:85967800-85981200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:85968800-85988800	Weak transcription	HSMMtube	muscle
36	chr11:85969200-85976200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:85969200-85987400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr11:85969200-85988200	Weak transcription	NH-A	brain
39	chr11:85969200-85995200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:85969800-85988400	Weak transcription	Fetal Brain Male	brain
41	chr11:85970000-85976600	Strong transcription	Primary B cells from cord blood	blood
42	chr11:85970000-85977200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:85970200-85976400	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:85970200-85976400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:85970200-85976400	Strong transcription	Liver	Liver
46	chr11:85970200-85976400	Strong transcription	Duodenum Mucosa	Duodenum
47	chr11:85970200-85976600	Strong transcription	Dnd41	blood
48	chr11:85970200-85978000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:85970200-85978000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr11:85970400-85976200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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