Variant report

Variant	nsv972044
Chromosome Location	chr11:74193334-74195857
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	chr11:74194748..74197012-chr11:74203038..74205588,2	MCF-7	breast:
2	chr11:74185351..74193647-chr11:74202565..74206845,12	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLD3-5	chr11:74193295-74193587	NONHSAT022902
2	lnc-POLD3-4	chr11:74195222-74195293	ENSG00000254631.1

Variant related genes	Relation type
ENSG00000254837	chromatin interactions
ENSG00000175536	chromatin interactions
ENSG00000077514	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553383649	chr11:74193355-74193356	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
2	rs141079753	chr11:74193368-74193369	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
3	rs562992376	chr11:74193399-74193400	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
4	rs563860543	chr11:74193421-74193422	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
5	rs577285186	chr11:74193422-74193423	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
6	rs543025668	chr11:74193436-74193437	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
7	rs1280351	chr11:74193496-74193497	Weak transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537277279	chr11:74193618-74193619	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs145625809	chr11:74193629-74193630	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs528871403	chr11:74193630-74193631	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs79163973	chr11:74193647-74193648	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs55885482	chr11:74193649-74193650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372932116	chr11:74193655-74193656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187604353	chr11:74193670-74193671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564319170	chr11:74193775-74193776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571777551	chr11:74193777-74193778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537493395	chr11:74193796-74193797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528278064	chr11:74193817-74193818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193120770	chr11:74193822-74193823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374898359	chr11:74193858-74193859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369141130	chr11:74193916-74193917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536239551	chr11:74193922-74193923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553659714	chr11:74193938-74193939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs57990605	chr11:74193939-74193940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143145151	chr11:74193977-74193978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56291869	chr11:74194007-74194008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577322271	chr11:74194055-74194056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543152245	chr11:74194060-74194061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114174180	chr11:74194074-74194075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143452296	chr11:74194105-74194106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573608901	chr11:74194111-74194112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142007016	chr11:74194112-74194113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542229433	chr11:74194123-74194124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568321173	chr11:74194126-74194127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185090655	chr11:74194146-74194147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111538499	chr11:74194165-74194166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190019561	chr11:74194191-74194192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138340511	chr11:74194192-74194193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79356135	chr11:74194196-74194197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76972357	chr11:74194197-74194198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140508824	chr11:74194203-74194204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565121287	chr11:74194208-74194209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76727499	chr11:74194210-74194211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80353102	chr11:74194211-74194212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79415477	chr11:74194254-74194255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182137811	chr11:74194284-74194285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567635980	chr11:74194374-74194375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149562968	chr11:74194377-74194378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546642921	chr11:74194385-74194386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550513727	chr11:74194467-74194468	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
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	chr11:74191000-74197000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:74191400-74204000	Weak transcription	Ovary	ovary
3	chr11:74192000-74196600	Weak transcription	K562	blood
4	chr11:74192200-74196000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:74192400-74195800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:74192400-74196800	Weak transcription	HepG2	liver
7	chr11:74192400-74203200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:74193200-74193600	Enhancers	Small Intestine	intestine
9	chr11:74193400-74200600	Weak transcription	Primary T cells from cord blood	blood
10	chr11:74195800-74197600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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