Variant report

Variant	nsv820587
Chromosome Location	chr11:74133979-74141418
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74108484..74111534-chr11:74133816..74136731,4	MCF-7	breast:
2	chr11:74107926..74110579-chr11:74135503..74137366,2	K562	blood:
3	chr11:74107780..74112076-chr11:74138285..74145600,7	MCF-7	breast:
4	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
5	chr11:74128652..74130303-chr11:74131969..74134744,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLD3-4	chr11:74139378-74139610	ENSG00000254631.1

No data

Variant related genes	Relation type
ENSG00000264402	chromatin interactions
ENSG00000254631	chromatin interactions
ENSG00000165434	chromatin interactions

Extended variants
information (count: 293 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549620255	chr11:74133983-74133984	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs111513842	chr11:74134027-74134028	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147165374	chr11:74134028-74134029	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs77037528	chr11:74134067-74134068	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs140336789	chr11:74134068-74134069	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs187886571	chr11:74134144-74134145	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558808900	chr11:74134180-74134181	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs569215696	chr11:74134197-74134198	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs207472007	chr11:74134206-74134207	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs144211786	chr11:74134257-74134258	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs191816517	chr11:74134258-74134259	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs553247073	chr11:74134290-74134291	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs575258458	chr11:74134294-74134295	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534500630	chr11:74134318-74134319	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs71465916	chr11:74134336-74134337	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs554372940	chr11:74134380-74134381	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs147759002	chr11:74134386-74134387	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs114783886	chr11:74134388-74134389	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs564863359	chr11:74134408-74134409	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs575165408	chr11:74134486-74134487	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs543848258	chr11:74134487-74134488	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541547129	chr11:74134515-74134516	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs372222205	chr11:74134561-74134562	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs35278998	chr11:74134569-74134570	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs183495817	chr11:74134596-74134597	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs565179861	chr11:74134609-74134610	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546508666	chr11:74134640-74134641	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs560269538	chr11:74134662-74134663	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs148591633	chr11:74134665-74134666	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142957445	chr11:74134693-74134694	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs569293932	chr11:74134712-74134713	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs80187095	chr11:74134727-74134728	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs532049998	chr11:74134788-74134789	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs188230405	chr11:74134791-74134792	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548556895	chr11:74134815-74134816	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs547351003	chr11:74134833-74134834	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs7482019	chr11:74134834-74134835	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs534467066	chr11:74134846-74134847	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs565664082	chr11:74134871-74134872	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370402864	chr11:74134872-74134873	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs373621066	chr11:74134874-74134875	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs554532740	chr11:74134876-74134877	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs371861387	chr11:74134925-74134926	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs670722	chr11:74134968-74134969	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs558614921	chr11:74134969-74134970	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs548815648	chr11:74134981-74134982	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs192307515	chr11:74134998-74134999	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs533186477	chr11:74135007-74135008	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs543908873	chr11:74135062-74135063	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs560511233	chr11:74135120-74135121	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Hodgkin''s lymphoma	17606441	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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74129400-74138600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:74129400-74141000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:74130400-74140200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:74137600-74139000	Enhancers	HUVEC	blood vessel
5	chr11:74138200-74138800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:74138600-74138800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:74138600-74138800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:74138600-74139000	Enhancers	Osteobl	bone
9	chr11:74138800-74161600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:74140200-74140400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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