Variant report

Variant	nsv972042
Chromosome Location	chr11:71887920-71894534
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71801951..71802570-chr11:71894329..71895088,2	MCF-7	breast:
2	chr11:71894410..71895177-chr11:72064013..72065008,3	MCF-7	breast:
3	chr11:71853234..71854961-chr11:71893001..71894509,2	MCF-7	breast:
4	chr11:71822984..71825234-chr11:71889608..71891986,2	K562	blood:
5	chr11:71893161..71895965-chr11:71949419..71952347,2	MCF-7	breast:
6	chr11:71887728..71891423-chr11:71933064..71936414,3	MCF-7	breast:
7	chr11:71822765..71825342-chr11:71891494..71894881,3	MCF-7	breast:
8	chr11:71814495..71816095-chr11:71889921..71892170,2	MCF-7	breast:
9	chr11:71820912..71822792-chr11:71893220..71895882,2	K562	blood:
10	chr11:71853125..71854944-chr11:71891324..71892926,2	MCF-7	breast:
11	chr11:71790289..71792408-chr11:71893051..71895106,2	K562	blood:
12	chr11:71814518..71815081-chr11:71892378..71893328,2	MCF-7	breast:
13	chr11:71802059..71803123-chr11:71892536..71893396,4	MCF-7	breast:
14	chr11:71736305..71737102-chr11:71894203..71895181,2	K562	blood:
15	chr11:71892089..71899767-chr11:71932198..71938426,12	MCF-7	breast:
16	chr11:71812901..71816436-chr11:71891648..71895235,3	MCF-7	breast:
17	chr11:71894274..71895059-chr11:72144700..72145380,2	MCF-7	breast:
18	chr11:71851522..71853498-chr11:71890827..71892489,2	K562	blood:
19	chr11:71891814..71894783-chr11:71939408..71941980,2	MCF-7	breast:
20	chr11:71894266..71895107-chr11:71949011..71949837,3	MCF-7	breast:
21	chr11:71894173..71895075-chr11:72144917..72145673,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238768	chromatin interactions
ENSG00000162129	chromatin interactions
ENSG00000165458	chromatin interactions
ENSG00000165462	chromatin interactions
ENSG00000149357	chromatin interactions
ENSG00000184154	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000137497	chromatin interactions

Extended variants
information (count: 310 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543489088	chr11:71887934-71887935	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs368438237	chr11:71887935-71887936	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72477717	chr11:71887954-71887955	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs376004206	chr11:71887955-71887956	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541360013	chr11:71887982-71887983	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs559388059	chr11:71887999-71888000	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533222371	chr11:71888031-71888032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571574308	chr11:71888082-71888083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563253501	chr11:71888107-71888108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375469778	chr11:71888141-71888142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530660116	chr11:71888153-71888154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs61378805	chr11:71888171-71888172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568685737	chr11:71888186-71888187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535675011	chr11:71888218-71888219	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547931277	chr11:71888229-71888230	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566258935	chr11:71888276-71888277	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs182950007	chr11:71888283-71888284	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557757321	chr11:71888298-71888299	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs547612360	chr11:71888322-71888323	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57421690	chr11:71888336-71888337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs116025216	chr11:71888370-71888371	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79026752	chr11:71888413-71888414	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs555574624	chr11:71888432-71888433	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574029718	chr11:71888477-71888478	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs201929842	chr11:71888507-71888508	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567134176	chr11:71888518-71888519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75869913	chr11:71888540-71888541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573603486	chr11:71888541-71888542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs545310427	chr11:71888546-71888547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76490248	chr11:71888550-71888551	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530518040	chr11:71888589-71888590	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111867754	chr11:71888608-71888609	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560829664	chr11:71888617-71888618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75842145	chr11:71888638-71888639	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547694980	chr11:71888656-71888657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs566239818	chr11:71888686-71888687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533479694	chr11:71888706-71888707	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs566144208	chr11:71888737-71888738	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs111731358	chr11:71888750-71888751	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569758908	chr11:71888755-71888756	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373000418	chr11:71888763-71888764	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537048846	chr11:71888775-71888776	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555690188	chr11:71888777-71888778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567678895	chr11:71888789-71888790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535098114	chr11:71888829-71888830	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76247490	chr11:71888900-71888901	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs75496584	chr11:71888901-71888902	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373981967	chr11:71888908-71888909	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35624904	chr11:71888926-71888927	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142840038	chr11:71888942-71888943	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	17142309	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71886000-71892600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:71886200-71890600	Weak transcription	NHEK	skin
3	chr11:71886200-71890800	Weak transcription	HMEC	breast
4	chr11:71886200-71891200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:71886400-71888800	Weak transcription	Hela-S3	cervix
6	chr11:71886400-71889000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:71886400-71890800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:71886400-71891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:71887200-71889600	Enhancers	Fetal Intestine Large	intestine
10	chr11:71887400-71889600	Enhancers	Fetal Intestine Small	intestine
11	chr11:71887800-71888000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:71887800-71888200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr11:71887800-71888400	Weak transcription	Colonic Mucosa	Colon
14	chr11:71887800-71888400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:71887800-71889600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:71888000-71888200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:71888200-71895800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:71888400-71888600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr11:71888400-71889400	Enhancers	Colonic Mucosa	Colon
20	chr11:71888600-71889000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr11:71888800-71889600	Enhancers	Hela-S3	cervix
22	chr11:71889000-71889400	Enhancers	Duodenum Mucosa	Duodenum
23	chr11:71889600-71890000	Weak transcription	Hela-S3	cervix
24	chr11:71889600-71892600	Weak transcription	Fetal Intestine Large	intestine
25	chr11:71889600-71900200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:71890000-71891200	Enhancers	Hela-S3	cervix
27	chr11:71890400-71891600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:71890400-71892000	Weak transcription	Right Ventricle	heart
29	chr11:71890600-71891800	Enhancers	NHEK	skin
30	chr11:71890800-71891000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
31	chr11:71890800-71891000	Active TSS	GM12878-XiMat	blood
32	chr11:71890800-71892000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:71890800-71895400	Enhancers	HMEC	breast
34	chr11:71891000-71891200	Flanking Active TSS	GM12878-XiMat	blood
35	chr11:71891000-71893400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:71891200-71891600	Weak transcription	Hela-S3	cervix
37	chr11:71891200-71891800	Enhancers	GM12878-XiMat	blood
38	chr11:71891200-71892200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:71891400-71893000	Enhancers	Fetal Thymus	thymus
40	chr11:71891600-71891800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:71891600-71891800	Enhancers	Hela-S3	cervix
42	chr11:71891600-71892000	Enhancers	Esophagus	oesophagus
43	chr11:71891600-71900200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:71891800-71892000	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:71891800-71892400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:71891800-71892800	Flanking Active TSS	NHEK	skin
47	chr11:71891800-71900400	Weak transcription	Hela-S3	cervix
48	chr11:71892000-71892400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:71892000-71892600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:71892000-71892800	Enhancers	Right Ventricle	heart

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