Variant report

Variant	esv1837893
Chromosome Location	chr11:74135203-74139699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

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

Extended variants
information (count: 184 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540117726	chr11:74135240-74135241	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs543830671	chr11:74135314-74135315	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369270862	chr11:74135355-74135356	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560223653	chr11:74135357-74135358	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs76990906	chr11:74135501-74135502	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs397784146	chr11:74135504-74135505	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs532326755	chr11:74135516-74135517	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115557719	chr11:74135588-74135589	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs397847897	chr11:74135592-74135593	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs35370531	chr11:74135611-74135612	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs3132849	chr11:74135649-74135650	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs531799041	chr11:74135654-74135655	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141032909	chr11:74135655-74135656	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs568442166	chr11:74135663-74135664	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534218288	chr11:74135680-74135681	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs548059228	chr11:74135687-74135688	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs559544360	chr11:74135717-74135718	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs145082019	chr11:74135834-74135835	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs190792029	chr11:74135840-74135841	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs569928505	chr11:74135910-74135911	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2509535	chr11:74135915-74135916	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554275924	chr11:74135916-74135917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs199842530	chr11:74135955-74135956	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs113305000	chr11:74135970-74135971	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs373457176	chr11:74136025-74136026	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs35215042	chr11:74136047-74136048	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs78145606	chr11:74136048-74136049	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs78633329	chr11:74136049-74136050	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201198929	chr11:74136062-74136063	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs145167498	chr11:74136065-74136066	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs181710389	chr11:74136110-74136111	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs539884763	chr11:74136128-74136129	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574611220	chr11:74136162-74136163	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs78416599	chr11:74136183-74136184	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs577018335	chr11:74136196-74136197	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs140575439	chr11:74136222-74136223	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs562510716	chr11:74136223-74136224	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs531564580	chr11:74136273-74136274	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs541881849	chr11:74136277-74136278	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs554347803	chr11:74136286-74136287	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs542327692	chr11:74136316-74136317	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs562203512	chr11:74136345-74136346	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs145641555	chr11:74136434-74136435	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs547425504	chr11:74136492-74136493	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs570832501	chr11:74136495-74136496	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs533422070	chr11:74136505-74136506	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs138121633	chr11:74136523-74136524	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs187116632	chr11:74136562-74136563	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs535688593	chr11:74136563-74136564	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs189438718	chr11:74136567-74136568	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 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

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