Variant report

Variant	nsv975201
Chromosome Location	chr11:72133768-72137290
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72132612..72135031-chr11:72143340..72145172,3	MCF-7	breast:
2	chr11:72135072..72139149-chr11:72140674..72144666,4	MCF-7	breast:
3	chr11:71934954..71937167-chr11:72134040..72136370,2	MCF-7	breast:
4	chr11:72129063..72130649-chr11:72133564..72135940,2	K562	blood:
5	chr11:71813241..71815467-chr11:72133642..72136332,2	MCF-7	breast:
6	chr11:72131141..72135165-chr11:72135954..72138566,4	K562	blood:
7	chr11:72135269..72137540-chr11:72145203..72146712,2	MCF-7	breast:
8	chr11:72131141..72133855-chr11:72136950..72138504,2	K562	blood:
9	chr11:72136230..72137519-chr11:72144851..72145568,3	MCF-7	breast:
10	chr11:72131141..72135165-chr11:72135954..72138566,4	K562	blood:
11	chr11:72127826..72130602-chr11:72132748..72136507,3	MCF-7	breast:
12	chr11:72133983..72138141-chr11:72138478..72141890,4	K562	blood:
13	chr11:72047802..72049631-chr11:72136016..72138131,2	MCF-7	breast:
14	chr11:72131141..72133855-chr11:72136950..72138504,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162129	chromatin interactions
ENSG00000165458	chromatin interactions
ENSG00000149357	chromatin interactions
ENSG00000238768	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577660517	chr11:72133814-72133815	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538141314	chr11:72133818-72133819	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544772253	chr11:72133871-72133872	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs184738178	chr11:72133967-72133968	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs139630795	chr11:72133983-72133984	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs541977402	chr11:72134001-72134002	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs144341105	chr11:72134036-72134037	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115537175	chr11:72134043-72134044	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs527669432	chr11:72134162-72134163	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs189497454	chr11:72134196-72134197	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs7118089	chr11:72134373-72134374	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs374981647	chr11:72134429-72134430	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs7107422	chr11:72134469-72134470	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531503825	chr11:72134519-72134520	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs73530765	chr11:72134524-72134525	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371481032	chr11:72134528-72134529	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs75531442	chr11:72134630-72134631	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs145247620	chr11:72134710-72134711	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs547161655	chr11:72134739-72134740	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs565810970	chr11:72134762-72134763	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs539061664	chr11:72134763-72134764	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs572207841	chr11:72134805-72134806	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs148725483	chr11:72134828-72134829	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs577573779	chr11:72134884-72134885	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs75283690	chr11:72134925-72134926	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs142263393	chr11:72134995-72134996	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs76162878	chr11:72134997-72134998	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs151013608	chr11:72135015-72135016	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs142241719	chr11:72135061-72135062	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs145962466	chr11:72135087-72135088	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs545831270	chr11:72135102-72135103	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs117647937	chr11:72135103-72135104	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs147813158	chr11:72135148-72135149	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs141323707	chr11:72135150-72135151	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs374844529	chr11:72135192-72135193	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs561682128	chr11:72135278-72135279	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs577065599	chr11:72135350-72135351	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs375423779	chr11:72135382-72135383	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs150335929	chr11:72135459-72135460	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs180746895	chr11:72135542-72135543	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs565555417	chr11:72135553-72135554	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs565593378	chr11:72135599-72135600	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs118064075	chr11:72135608-72135609	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs551359339	chr11:72135666-72135667	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs532829907	chr11:72135696-72135697	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs149037346	chr11:72135702-72135703	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs537069554	chr11:72135705-72135706	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs373577714	chr11:72135710-72135711	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs541609357	chr11:72135715-72135716	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs556877642	chr11:72135727-72135728	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Lung cancer	19153074	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72106800-72136800	Weak transcription	Esophagus	oesophagus
2	chr11:72106800-72136800	Weak transcription	NHLF	lung
3	chr11:72109600-72137000	Weak transcription	Osteobl	bone
4	chr11:72109800-72139200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:72110000-72134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:72110600-72139000	Weak transcription	Colonic Mucosa	Colon
7	chr11:72111800-72138400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr11:72114000-72138000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr11:72114200-72138600	Weak transcription	Ovary	ovary
10	chr11:72115200-72136600	Weak transcription	Aorta	Aorta
11	chr11:72123400-72134200	Weak transcription	Fetal Lung	lung
12	chr11:72123400-72136000	Weak transcription	Brain Germinal Matrix	brain
13	chr11:72123400-72136200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:72123400-72136600	Weak transcription	Spleen	Spleen
15	chr11:72123400-72136800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:72123600-72136600	Weak transcription	Fetal Brain Male	brain
17	chr11:72125400-72136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:72125400-72137400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:72125400-72138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:72125400-72139200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr11:72125400-72141600	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:72125400-72141800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:72125400-72142000	Weak transcription	HSMM	muscle
24	chr11:72125600-72136000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:72125600-72136600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:72125800-72134200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:72125800-72135200	Weak transcription	Fetal Stomach	stomach
28	chr11:72125800-72136600	Weak transcription	Fetal Intestine Small	intestine
29	chr11:72125800-72137000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:72125800-72137800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:72125800-72138000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:72125800-72138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:72125800-72138800	Weak transcription	Gastric	stomach
34	chr11:72125800-72139200	Weak transcription	NH-A	brain
35	chr11:72125800-72139400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:72125800-72139600	Weak transcription	HSMMtube	muscle
37	chr11:72125800-72144800	Weak transcription	Fetal Kidney	kidney
38	chr11:72126000-72136000	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:72126000-72136600	Weak transcription	Pancreas	Pancrea
40	chr11:72126000-72138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:72126000-72138400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr11:72128400-72135200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:72129200-72136000	Weak transcription	Right Atrium	heart
44	chr11:72129400-72135400	Weak transcription	Left Ventricle	heart
45	chr11:72129400-72136000	Weak transcription	Adipose Nuclei	Adipose
46	chr11:72129400-72136400	Weak transcription	Fetal Brain Female	brain
47	chr11:72129400-72136600	Weak transcription	Right Ventricle	heart
48	chr11:72129400-72136800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:72129400-72137200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:72129400-72137200	Weak transcription	Lung	lung

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