Variant report

Variant	nsv564392
Chromosome Location	chr14:38359157-38365605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:38056746..38059083-chr14:38363861..38366801,2	MCF-7	breast:
2	chr14:38363021..38365119-chr14:38365586..38368317,2	MCF-7	breast:
3	chr14:38363021..38365119-chr14:38365586..38368317,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXA1-2	chr14:38365265-38368615	XLOC_010999

Extended variants
information (count: 231 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:231 , 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	rs6571827	chr14:38359157-38359158	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575026514	chr14:38359164-38359165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563223374	chr14:38359178-38359179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185970404	chr14:38359194-38359195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537062056	chr14:38359199-38359200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116469973	chr14:38359479-38359480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532665939	chr14:38359491-38359492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552736031	chr14:38359506-38359507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140812300	chr14:38359558-38359559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535265237	chr14:38359583-38359584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548456163	chr14:38359589-38359590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78903870	chr14:38359641-38359642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537318834	chr14:38359654-38359655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200848448	chr14:38359683-38359684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4901412	chr14:38359760-38359761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs150225730	chr14:38359777-38359778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372053571	chr14:38359806-38359807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539025719	chr14:38359817-38359818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552697877	chr14:38359855-38359856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56034185	chr14:38359861-38359862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552319740	chr14:38359866-38359867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542016986	chr14:38359901-38359902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141584506	chr14:38359942-38359943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147034661	chr14:38359954-38359955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564126805	chr14:38359958-38359959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4901413	chr14:38360009-38360010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564355874	chr14:38360024-38360025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546366974	chr14:38360035-38360036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532576446	chr14:38360088-38360089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552599750	chr14:38360106-38360107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370855452	chr14:38360131-38360132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373968719	chr14:38360173-38360174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564356906	chr14:38360187-38360188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374076647	chr14:38360188-38360189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528533671	chr14:38360191-38360192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75465727	chr14:38360205-38360206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568528407	chr14:38360235-38360236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144076104	chr14:38360245-38360246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535419508	chr14:38360264-38360265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188370363	chr14:38360285-38360286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570807438	chr14:38360295-38360296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539086753	chr14:38360323-38360324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552511457	chr14:38360401-38360402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370068090	chr14:38360423-38360424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566564246	chr14:38360460-38360461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535173206	chr14:38360493-38360494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550611782	chr14:38360635-38360636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111926872	chr14:38360645-38360646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374399743	chr14:38360689-38360690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558129240	chr14:38360740-38360741	Weak transcription	n/a	n/a	Overlapped CNVs	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38359000-38359200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:38359400-38360800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:38360800-38361400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:38361200-38361400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr14:38361200-38361600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr14:38361200-38362200	Enhancers	HepG2	liver
7	chr14:38361400-38362200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:38361400-38363400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:38361600-38362800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr14:38362200-38362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:38362400-38362800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:38362400-38364400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:38362800-38364800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:38362800-38365000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:38362800-38365200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:38363200-38364200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:38363200-38364400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr14:38363400-38363600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:38363400-38363600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:38363400-38363800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr14:38363400-38363800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:38363400-38364200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:38363600-38363800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:38363600-38363800	Enhancers	Psoas Muscle	Psoas
25	chr14:38363600-38364400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:38363800-38364000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:38363800-38371000	Weak transcription	Psoas Muscle	Psoas
28	chr14:38364000-38364200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr14:38364200-38364400	Enhancers	Adipose Nuclei	Adipose
30	chr14:38364200-38364600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:38364400-38364600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:38364400-38365400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr14:38364400-38369200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr14:38364600-38366000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:38365000-38372600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:38365400-38365600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr14:38365400-38365600	Enhancers	Fetal Lung	lung

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