Variant report

Variant	nsv825990
Chromosome Location	chr11:72083427-72087638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72083647..72086381-chr11:72088887..72091041,2	K562	blood:
2	chr11:71812586..71815565-chr11:72083250..72086241,2	MCF-7	breast:
3	chr11:72084396..72086177-chr11:72089837..72092827,2	MCF-7	breast:
4	chr11:72086693..72088223-chr11:72088770..72090726,2	K562	blood:
5	chr11:72079257..72081887-chr11:72082769..72085446,2	K562	blood:

Variant related genes	Relation type
ENSG00000238768	chromatin interactions
ENSG00000149357	chromatin interactions
ENSG00000162129	chromatin interactions

Extended variants
information (count: 121 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58941166	chr11:72083441-72083442	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531776948	chr11:72083484-72083485	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143628796	chr11:72083535-72083536	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs117371923	chr11:72083543-72083544	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs560538711	chr11:72083559-72083560	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529049100	chr11:72083620-72083621	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547584301	chr11:72083629-72083630	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565771306	chr11:72083664-72083665	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368087805	chr11:72083671-72083672	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148055260	chr11:72083672-72083673	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs545141631	chr11:72083682-72083683	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551102654	chr11:72083695-72083696	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141751451	chr11:72083867-72083868	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs536653586	chr11:72083907-72083908	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369768699	chr11:72083954-72083955	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201350869	chr11:72083967-72083968	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201151763	chr11:72083970-72083971	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145036787	chr11:72083985-72083986	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs374473067	chr11:72084002-72084003	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs149056885	chr11:72084035-72084036	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs143097446	chr11:72084037-72084038	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150552809	chr11:72084044-72084045	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs377766896	chr11:72084052-72084053	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs202180604	chr11:72084074-72084075	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs572600067	chr11:72084131-72084132	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs546307151	chr11:72084246-72084247	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138742799	chr11:72084271-72084272	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77132354	chr11:72084354-72084355	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs117652953	chr11:72084357-72084358	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543857313	chr11:72084389-72084390	Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182692047	chr11:72084436-72084437	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs377323849	chr11:72084472-72084473	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529170998	chr11:72084477-72084478	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs78882064	chr11:72084480-72084481	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs142725252	chr11:72084539-72084540	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs532971212	chr11:72084563-72084564	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs551014980	chr11:72084597-72084598	Enhancers Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs569436259	chr11:72084773-72084774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs188102272	chr11:72084782-72084783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs548950822	chr11:72084834-72084835	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs375439501	chr11:72084851-72084852	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192934045	chr11:72084862-72084863	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs536146691	chr11:72084887-72084888	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs147354733	chr11:72084898-72084899	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs375607326	chr11:72084905-72084906	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs566221676	chr11:72084918-72084919	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs540038624	chr11:72084919-72084920	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs558252364	chr11:72084925-72084926	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576625440	chr11:72084932-72084933	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs534792410	chr11:72084939-72084940	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Lung cancer	18438408	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
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Obesity	19966786	CNVD
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72045800-72094600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:72050000-72092200	Weak transcription	Pancreas	Pancrea
3	chr11:72059800-72086800	Weak transcription	Fetal Brain Male	brain
4	chr11:72061400-72088600	Weak transcription	Ovary	ovary
5	chr11:72061400-72089800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72061400-72090000	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:72061400-72092200	Weak transcription	Gastric	stomach
8	chr11:72062600-72089600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:72064000-72090000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:72064400-72090000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:72064800-72088800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:72064800-72089800	Weak transcription	HSMMtube	muscle
13	chr11:72065000-72110800	Weak transcription	Hela-S3	cervix
14	chr11:72066200-72091200	Weak transcription	Aorta	Aorta
15	chr11:72066600-72095000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr11:72067000-72092000	Weak transcription	HepG2	liver
17	chr11:72067400-72090800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:72067800-72089600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:72067800-72090000	Weak transcription	Right Ventricle	heart
20	chr11:72068200-72084000	Weak transcription	Lung	lung
21	chr11:72069000-72090000	Weak transcription	NHEK	skin
22	chr11:72069400-72089600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:72069400-72111400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:72069600-72090000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:72069600-72090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:72069600-72090200	Weak transcription	Placenta	Placenta
27	chr11:72069600-72094600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:72069800-72084000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:72069800-72089200	Weak transcription	Spleen	Spleen
30	chr11:72069800-72089400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:72069800-72098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:72070200-72084000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:72070200-72089800	Weak transcription	Brain Substantia Nigra	brain
34	chr11:72070400-72089800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:72070600-72094000	Weak transcription	Fetal Thymus	thymus
36	chr11:72072800-72092400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:72072800-72098800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:72073400-72103200	Weak transcription	K562	blood
39	chr11:72075000-72089800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:72075000-72091000	Weak transcription	Thymus	Thymus
41	chr11:72075000-72099400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:72076800-72088800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:72077000-72090000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:72077200-72090000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr11:72077600-72089200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:72077600-72089800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr11:72078000-72089800	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr11:72078000-72094800	Weak transcription	Liver	Liver
49	chr11:72078200-72085000	Weak transcription	Primary B cells from cord blood	blood
50	chr11:72078200-72089800	Weak transcription	Brain Angular Gyrus	brain

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