Variant report

Variant	esv12771
Chromosome Location	chr11:74137378-74140580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
2	chr11:74107780..74112076-chr11:74138285..74145600,7	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: 118 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563348161	chr11:74137439-74137440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80321348	chr11:74137459-74137460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549283510	chr11:74137488-74137489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545239421	chr11:74137489-74137490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77922898	chr11:74137503-74137504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569759653	chr11:74137528-74137529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189893578	chr11:74137541-74137542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183704812	chr11:74137546-74137547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs612040	chr11:74137551-74137552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs367836703	chr11:74137552-74137553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143810857	chr11:74137603-74137604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549755491	chr11:74137630-74137631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112060305	chr11:74137730-74137731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569682707	chr11:74137743-74137744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146834004	chr11:74137757-74137758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370343212	chr11:74137759-74137760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs616016	chr11:74137763-74137764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144274231	chr11:74137793-74137794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534861417	chr11:74137805-74137806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557970177	chr11:74137820-74137821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80263265	chr11:74137834-74137835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs615593	chr11:74137847-74137848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114400394	chr11:74137852-74137853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs615569	chr11:74137867-74137868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551979485	chr11:74137917-74137918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368706168	chr11:74137927-74137928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573720642	chr11:74137929-74137930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111927345	chr11:74137939-74137940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535293752	chr11:74137945-74137946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563893822	chr11:74137963-74137964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115153902	chr11:74137981-74137982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs614757	chr11:74137998-74137999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565347146	chr11:74138045-74138046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140932663	chr11:74138078-74138079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549920880	chr11:74138088-74138089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201249035	chr11:74138107-74138108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182466324	chr11:74138162-74138163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528928897	chr11:74138281-74138282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187176628	chr11:74138296-74138297	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs566013324	chr11:74138324-74138325	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534619765	chr11:74138325-74138326	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs557896742	chr11:74138388-74138389	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs571369334	chr11:74138389-74138390	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs537120554	chr11:74138456-74138457	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs58829591	chr11:74138493-74138494	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs397849737	chr11:74138494-74138495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs377125237	chr11:74138510-74138511	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs192422860	chr11:74138514-74138515	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs150386668	chr11:74138524-74138525	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs542658014	chr11:74138559-74138560	Weak transcription Enhancers	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: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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