Variant report

Variant	nsv1251
Chromosome Location	chr14:40861094-40899002
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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40863521..40865803-chr14:40870395..40872089,2	MCF-7	breast:
2	chr14:40886812..40887593-chr14:41183727..41184438,2	MCF-7	breast:
3	chr14:40860557..40863122-chr14:40865189..40868111,2	MCF-7	breast:
4	chr14:40863521..40865803-chr14:40870395..40872089,2	MCF-7	breast:
5	chr14:40862573..40865201-chr14:40865784..40867370,2	K562	blood:
6	chr14:40860557..40863122-chr14:40865189..40868111,2	MCF-7	breast:
7	chr14:40879663..40882573-chr14:40893834..40895743,2	MCF-7	breast:
8	chr14:40857820..40860668-chr14:40862186..40864573,2	MCF-7	breast:
9	chr14:40862573..40865201-chr14:40865784..40867370,2	K562	blood:
10	chr14:40886743..40887636-chr14:41183711..41184631,4	MCF-7	breast:
11	chr14:40879663..40882573-chr14:40893834..40895743,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-1	chr14:40882853-40882879	XLOC_011003
2	lnc-FBXO33-1	chr14:40880506-40880728	XLOC_011003

No data

Extended variants
information (count: 240 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577784196	chr14:40861958-40861959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191498025	chr14:40861979-40861980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10133440	chr14:40862002-40862003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184374351	chr14:40862017-40862018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371935389	chr14:40862028-40862029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142470577	chr14:40862035-40862036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145212260	chr14:40862055-40862056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550736807	chr14:40862060-40862061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61988098	chr14:40862138-40862139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188241714	chr14:40862189-40862190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539579267	chr14:40862206-40862207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193275431	chr14:40862237-40862238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566800670	chr14:40862255-40862256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535793544	chr14:40862276-40862277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145036866	chr14:40862282-40862283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575575383	chr14:40862367-40862368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386776700	chr14:40862418-40862419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200989173	chr14:40862419-40862420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7148563	chr14:40862440-40862441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs7149829	chr14:40862461-40862462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs8012533	chr14:40862466-40862467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs149109781	chr14:40862496-40862497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185690696	chr14:40862522-40862523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143162535	chr14:40862584-40862585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531140051	chr14:40862636-40862637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550847224	chr14:40862659-40862660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564380588	chr14:40862663-40862664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533346996	chr14:40862688-40862689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115999311	chr14:40862752-40862753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148273563	chr14:40862768-40862769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529286359	chr14:40862804-40862805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111261132	chr14:40862807-40862808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190597548	chr14:40862859-40862860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370491131	chr14:40862902-40862903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538174259	chr14:40862934-40862935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10134152	chr14:40862938-40862939	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571512396	chr14:40862941-40862942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140219899	chr14:40863035-40863036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73290067	chr14:40863047-40863048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181062482	chr14:40863147-40863148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542337304	chr14:40863148-40863149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183602174	chr14:40863168-40863169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114619996	chr14:40863244-40863245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539639121	chr14:40863251-40863252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544553405	chr14:40863258-40863259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1952936	chr14:40863288-40863289	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs1952937	chr14:40863292-40863293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560401588	chr14:40863315-40863316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145256660	chr14:40863378-40863379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12891944	chr14:40863379-40863380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40861800-40862200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:40862200-40863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:40862800-40863600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:40863400-40864000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr14:40875400-40875600	Enhancers	Aorta	Aorta
6	chr14:40875600-40875800	ZNF genes & repeats	Aorta	Aorta
7	chr14:40877200-40877800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:40882400-40883000	Enhancers	Fetal Heart	heart
9	chr14:40883000-40883400	Weak transcription	Fetal Heart	heart
10	chr14:40883400-40884000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:40883400-40884000	Enhancers	Fetal Heart	heart
12	chr14:40886600-40887400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:40886800-40887000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:40886800-40887200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:40886800-40887200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr14:40886800-40887400	Enhancers	HUES6 Cell Line	embryonic stem cell

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