Variant report

Variant	nsv8838
Chromosome Location	chr11:74132051-74141299
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74107926..74110579-chr11:74135503..74137366,2	K562	blood:
2	chr11:74130274..74132953-chr11:74151394..74153673,3	MCF-7	breast:
3	chr11:74128652..74130303-chr11:74131969..74134744,2	MCF-7	breast:
4	chr11:74138649..74141159-chr11:74159030..74161938,2	MCF-7	breast:
5	chr11:74108484..74111534-chr11:74133816..74136731,4	MCF-7	breast:
6	chr11:74107780..74112076-chr11:74138285..74145600,7	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
ENSG00000254631	chromatin interactions
ENSG00000264402	chromatin interactions
ENSG00000165434	chromatin interactions

Extended variants
information (count: 354 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186312506	chr11:74132146-74132147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141956030	chr11:74132150-74132151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549117419	chr11:74132152-74132153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191607722	chr11:74132165-74132166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371224169	chr11:74132222-74132223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144927675	chr11:74132250-74132251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551372026	chr11:74132251-74132252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537678422	chr11:74132265-74132266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571559345	chr11:74132267-74132268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536850883	chr11:74132378-74132379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76154094	chr11:74132409-74132410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs66959329	chr11:74132438-74132439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113959007	chr11:74132618-74132619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553078005	chr11:74132653-74132654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572883822	chr11:74132674-74132675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545423458	chr11:74132686-74132687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185381546	chr11:74132710-74132711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141316783	chr11:74132718-74132719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190922415	chr11:74132737-74132738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3028721	chr11:74132766-74132767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200064427	chr11:74132768-74132769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376342809	chr11:74132770-74132771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561435202	chr11:74132772-74132773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530341937	chr11:74132776-74132777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374649992	chr11:74132905-74132906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542724790	chr11:74132922-74132923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114587606	chr11:74132933-74132934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559625338	chr11:74132987-74132988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4363632	chr11:74133007-74133008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs571178703	chr11:74133079-74133080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571164560	chr11:74133144-74133145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183384592	chr11:74133148-74133149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12099424	chr11:74133184-74133185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550621072	chr11:74133268-74133269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34300228	chr11:74133317-74133318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113906330	chr11:74133325-74133326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567100189	chr11:74133382-74133383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542438599	chr11:74133396-74133397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536075086	chr11:74133401-74133402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553039191	chr11:74133413-74133414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566668673	chr11:74133420-74133421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538756189	chr11:74133426-74133427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367573334	chr11:74133435-74133436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188509788	chr11:74133445-74133446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575567787	chr11:74133464-74133465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115737460	chr11:74133487-74133488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192890820	chr11:74133492-74133493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372312695	chr11:74133498-74133499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575072545	chr11:74133544-74133545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540871240	chr11:74133593-74133594	Weak transcription	n/a	n/a	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:11 , 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	chr11:74132200-74132400	Enhancers	A549	lung
5	chr11:74137600-74139000	Enhancers	HUVEC	blood vessel
6	chr11:74138200-74138800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr11:74138600-74138800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:74138600-74138800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:74138600-74139000	Enhancers	Osteobl	bone
10	chr11:74138800-74161600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:74140200-74140400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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