Variant report

Variant	nsv564411
Chromosome Location	chr14:38958967-39025057
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:7)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38992976..38994987-chr14:38997172..38999955,2	MCF-7	breast:
2	chr14:38961025..38963997-chr14:38965600..38967943,2	MCF-7	breast:
3	chr14:38961025..38963997-chr14:38965600..38967943,2	MCF-7	breast:
4	chr14:38992976..38994987-chr14:38997172..38999955,2	MCF-7	breast:
5	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:
6	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:
7	chr14:39008171..39008691-chr2:31059867..31060387,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR1-6	chr14:39023972-39024247	l_972_chr14:39013725-39019303_testes
2	lnc-SSTR1-5	chr14:38971571-38971630	l_971_chr14:38971570-39013700_testes
3	lnc-SSTR1-5	chr14:38973050-38973650	l_971_chr14:38971570-39013700_testes
4	lnc-SSTR1-5	chr14:39013489-39013700	l_971_chr14:38971570-39013700_testes
5	lnc-SSTR1-6	chr14:39013726-39013910	l_972_chr14:39013725-39019303_testes
6	lnc-SSTR1-5	chr14:39009273-39009709	l_971_chr14:38971570-39013700_testes
7	lnc-SSTR1-6	chr14:39018824-39019303	l_972_chr14:39013725-39019303_testes

No data

Extended variants
information (count: 2374 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2374 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2415482	chr14:38958967-38958968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2899874	chr14:38959071-38959072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112718562	chr14:38959085-38959086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141059717	chr14:38959147-38959148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192391680	chr14:38959167-38959168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574085119	chr14:38959169-38959170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150241473	chr14:38959226-38959227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4570744	chr14:38959228-38959229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs533837116	chr14:38959244-38959245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183168070	chr14:38959301-38959302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188000177	chr14:38959330-38959331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375045511	chr14:38959340-38959341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567172969	chr14:38959343-38959344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193032209	chr14:38959347-38959348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184695842	chr14:38959348-38959349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555868075	chr14:38959375-38959376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575665829	chr14:38959406-38959407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35168905	chr14:38959413-38959414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs137967380	chr14:38959429-38959430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142459036	chr14:38959438-38959439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533058464	chr14:38959472-38959473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376730144	chr14:38959492-38959493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371495104	chr14:38959510-38959511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368243816	chr14:38959538-38959539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188873804	chr14:38959631-38959632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376499753	chr14:38959709-38959710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551289194	chr14:38959733-38959734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540967390	chr14:38959742-38959743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79747137	chr14:38959860-38959861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189458263	chr14:38959880-38959881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138534992	chr14:38959882-38959883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149236914	chr14:38959904-38959905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531325593	chr14:38959914-38959915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192606038	chr14:38960009-38960010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548774526	chr14:38960015-38960016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564770434	chr14:38960019-38960020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368918753	chr14:38960043-38960044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569475801	chr14:38960084-38960085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547317927	chr14:38960099-38960100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184972621	chr14:38960100-38960101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536006853	chr14:38960129-38960130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549731848	chr14:38960150-38960151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372289132	chr14:38960175-38960176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118181004	chr14:38960186-38960187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144635724	chr14:38960192-38960193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35014213	chr14:38960195-38960196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189343478	chr14:38960217-38960218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78798990	chr14:38960218-38960219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73282697	chr14:38960228-38960229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574401678	chr14:38960267-38960268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38949200-38975200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:38958200-38975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:38965000-38966600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr14:38965200-38966600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:38971600-38972000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:38971600-38972000	Enhancers	NHDF-Ad	bronchial
7	chr14:38972000-38974400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:38974200-38975600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:38974400-38974600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:38974400-38975600	Enhancers	Fetal Brain Male	brain
11	chr14:38974400-38975800	Enhancers	Brain Germinal Matrix	brain
12	chr14:38974400-38976000	Enhancers	Ovary	ovary
13	chr14:38974600-38975000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:38974800-38975200	Enhancers	NHLF	lung
15	chr14:38975000-38975600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:38975000-38975600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:38975000-38975600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:38975000-38975800	Enhancers	Brain Angular Gyrus	brain
19	chr14:38975000-38975800	Enhancers	Fetal Brain Female	brain
20	chr14:38975000-38976400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:38975200-38975400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:38975200-38975800	Enhancers	Psoas Muscle	Psoas
23	chr14:38975200-38976600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:38975400-38976200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:38975600-38975800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:38975600-38976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:38975800-38976400	Weak transcription	Psoas Muscle	Psoas
28	chr14:38976000-38976600	Weak transcription	Ovary	ovary
29	chr14:38976200-38978200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr14:38976400-38976600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:38976600-38976800	Enhancers	Ovary	ovary
32	chr14:38976600-38976800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:38976600-38982200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:38976800-38977000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr14:38976800-38977800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:38977000-38977200	Enhancers	Psoas Muscle	Psoas
37	chr14:38977000-38977200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr14:38982200-38982600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:38982600-38992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:38988600-38989000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:38989000-38991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:38989600-38990400	Active TSS	Liver	Liver
43	chr14:38990400-38990600	Enhancers	Liver	Liver
44	chr14:38990600-38990800	Flanking Active TSS	Liver	Liver
45	chr14:38990800-38991400	Enhancers	Liver	Liver
46	chr14:38991400-38991800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:38991800-38992000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:38991800-38992400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr14:38991800-38992600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr14:38991800-38993400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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