Variant report

Variant	nsv983044
Chromosome Location	chr11:75415170-75418558
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75417086..75417590-chr11:75511893..75512466,2	MCF-7	breast:
2	chr11:75417138..75417827-chr11:75514337..75514943,2	MCF-7	breast:
3	chr11:75407698..75409823-chr11:75412670..75416141,3	K562	blood:
4	chr11:75156405..75156952-chr11:75417206..75417726,2	K562	blood:
5	chr11:75416234..75418863-chr11:75478065..75480151,2	MCF-7	breast:
6	chr11:75417249..75417751-chr11:75578528..75579417,2	MCF-7	breast:
7	chr11:75297859..75300646-chr11:75417581..75420277,2	K562	blood:
8	chr11:75407698..75409624-chr11:75413894..75416141,2	K562	blood:
9	chr11:75415113..75417792-chr11:75424221..75425813,2	MCF-7	breast:
10	chr11:75416987..75417519-chr11:75478728..75479439,2	MCF-7	breast:
11	chr11:75415903..75418586-chr11:75524285..75525879,2	MCF-7	breast:
12	chr11:75308811..75309383-chr11:75417094..75418075,3	MCF-7	breast:
13	chr11:75293366..75295578-chr11:75413521..75416153,3	MCF-7	breast:
14	chr11:75273492..75275162-chr11:75415663..75418287,2	MCF-7	breast:
15	chr11:75417003..75417960-chr11:75478722..75480062,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254814	chromatin interactions
ENSG00000255507	chromatin interactions
ENSG00000255326	chromatin interactions
ENSG00000062282	chromatin interactions
ENSG00000149257	chromatin interactions
ENSG00000247867	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547528216	chr11:75415206-75415207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564176817	chr11:75415209-75415210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148466376	chr11:75415210-75415211	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs543565373	chr11:75415290-75415291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550331179	chr11:75415295-75415296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112801613	chr11:75415296-75415297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs535750843	chr11:75415302-75415303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549228239	chr11:75415325-75415326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544059453	chr11:75415335-75415336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11236496	chr11:75415421-75415422	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534671804	chr11:75415422-75415423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557998666	chr11:75415440-75415441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs578038302	chr11:75415481-75415482	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61544743	chr11:75415493-75415494	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370477478	chr11:75415557-75415558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs544052157	chr11:75415612-75415613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56028902	chr11:75415630-75415631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556319154	chr11:75415642-75415643	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565321493	chr11:75415684-75415685	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112560755	chr11:75415737-75415738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs554948539	chr11:75415738-75415739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561928938	chr11:75415755-75415756	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs572090549	chr11:75415756-75415757	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs529825354	chr11:75415774-75415775	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188959927	chr11:75415777-75415778	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564058761	chr11:75415806-75415807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs11236497	chr11:75415940-75415941	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549567449	chr11:75415968-75415969	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs144128852	chr11:75415998-75415999	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs146518624	chr11:75416063-75416064	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs139486950	chr11:75416070-75416071	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs376843857	chr11:75416078-75416079	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs144211752	chr11:75416124-75416125	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113347607	chr11:75416171-75416172	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs7114999	chr11:75416174-75416175	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs72995631	chr11:75416177-75416178	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs374610849	chr11:75416224-75416225	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573531631	chr11:75416229-75416230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs112441522	chr11:75416279-75416280	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs151046393	chr11:75416304-75416305	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs569880964	chr11:75416350-75416351	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs140977165	chr11:75416351-75416352	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs555724268	chr11:75416374-75416375	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs150230799	chr11:75416385-75416386	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs540708155	chr11:75416405-75416406	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs10793120	chr11:75416416-75416417	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs577527476	chr11:75416419-75416420	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs543522595	chr11:75416428-75416429	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs535298471	chr11:75416467-75416468	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs563018884	chr11:75416471-75416472	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75410200-75417000	Weak transcription	Fetal Intestine Large	intestine
2	chr11:75412000-75417200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:75412200-75416600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:75412200-75417200	Weak transcription	Adipose Nuclei	Adipose
5	chr11:75412400-75417200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:75412400-75417200	Weak transcription	Fetal Heart	heart
7	chr11:75413400-75417200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:75413600-75417400	Weak transcription	Spleen	Spleen
9	chr11:75414200-75417200	Weak transcription	GM12878-XiMat	blood
10	chr11:75415200-75416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:75416600-75417400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr11:75416600-75417400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:75416600-75417400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:75416600-75417400	Enhancers	NH-A	brain
15	chr11:75416600-75417800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:75416600-75417800	Enhancers	NHEK	skin
17	chr11:75416800-75417200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:75416800-75417200	Enhancers	Hela-S3	cervix
19	chr11:75416800-75417400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:75416800-75417400	Enhancers	Small Intestine	intestine
21	chr11:75416800-75417600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:75416800-75417800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:75416800-75417800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr11:75416800-75417800	Enhancers	Stomach Mucosa	stomach
25	chr11:75416800-75417800	Enhancers	HMEC	breast
26	chr11:75416800-75417800	Enhancers	K562	blood
27	chr11:75416800-75418400	Enhancers	Fetal Stomach	stomach
28	chr11:75417000-75417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:75417000-75417200	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr11:75417000-75417200	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:75417000-75417200	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:75417000-75417200	Enhancers	HepG2	liver
33	chr11:75417000-75417200	Enhancers	Osteobl	bone
34	chr11:75417000-75417400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:75417000-75417400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:75417000-75417800	Enhancers	Fetal Intestine Large	intestine
37	chr11:75417200-75417400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
38	chr11:75417200-75417400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr11:75417200-75417400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:75417200-75417400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:75417200-75417400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:75417200-75417400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:75417200-75417400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
44	chr11:75417200-75417400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:75417200-75417400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:75417200-75417400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:75417200-75417400	Flanking Active TSS	Colonic Mucosa	Colon
48	chr11:75417200-75417400	Enhancers	Colon Smooth Muscle	Colon
49	chr11:75417200-75417400	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:75417200-75417400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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