Variant report

Variant	nsv901655
Chromosome Location	chr14:38887881-39019800
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:9)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:
2	chr14:38992976..38994987-chr14:38997172..38999955,2	MCF-7	breast:
3	chr14:39008171..39008691-chr2:31059867..31060387,2	MCF-7	breast:
4	chr14:38898733..38900505-chr14:38900803..38902931,2	K562	blood:
5	chr14:38898733..38900505-chr14:38900803..38902931,2	K562	blood:
6	chr14:38992976..38994987-chr14:38997172..38999955,2	MCF-7	breast:
7	chr14:38961025..38963997-chr14:38965600..38967943,2	MCF-7	breast:
8	chr14:38961025..38963997-chr14:38965600..38967943,2	MCF-7	breast:
9	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:

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

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

No data

Extended variants
information (count: 3162 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3162 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1168566	chr14:38887881-38887882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546152715	chr14:38887927-38887928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553680890	chr14:38887953-38887954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147207126	chr14:38888036-38888037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140517390	chr14:38888084-38888085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149289407	chr14:38888119-38888120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76443908	chr14:38888155-38888156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536956310	chr14:38888156-38888157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530478667	chr14:38888160-38888161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544308680	chr14:38888189-38888190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77961385	chr14:38888271-38888272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532917692	chr14:38888297-38888298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546220750	chr14:38888300-38888301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373545405	chr14:38888306-38888307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs144745683	chr14:38888307-38888308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548720472	chr14:38888336-38888337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568719108	chr14:38888337-38888338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537115857	chr14:38888375-38888376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76402087	chr14:38888385-38888386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376712531	chr14:38888447-38888448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148527733	chr14:38888460-38888461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570884660	chr14:38888479-38888480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11627917	chr14:38888501-38888502	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs577680632	chr14:38888526-38888527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553446686	chr14:38888538-38888539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527748588	chr14:38888650-38888651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35858616	chr14:38888730-38888731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs190375083	chr14:38888760-38888761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182008900	chr14:38888804-38888805	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544504730	chr14:38888805-38888806	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs564190717	chr14:38888812-38888813	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185263629	chr14:38888819-38888820	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372829869	chr14:38888841-38888842	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs146543693	chr14:38888861-38888862	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559720164	chr14:38888900-38888901	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs529110407	chr14:38888969-38888970	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs115399119	chr14:38888994-38888995	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368904335	chr14:38889008-38889009	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs75325808	chr14:38889034-38889035	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551321145	chr14:38889054-38889055	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558653476	chr14:38889080-38889081	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376084775	chr14:38889095-38889096	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79498743	chr14:38889106-38889107	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs376574314	chr14:38889145-38889146	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs60917271	chr14:38889173-38889174	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs576945840	chr14:38889192-38889193	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs112775881	chr14:38889215-38889216	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114579704	chr14:38889230-38889231	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369195323	chr14:38889292-38889293	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs180955436	chr14:38889338-38889339	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38878800-38889000	Weak transcription	Aorta	Aorta
2	chr14:38888000-38890000	Enhancers	Brain Germinal Matrix	brain
3	chr14:38888800-38889000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:38888800-38889000	Enhancers	Brain Angular Gyrus	brain
5	chr14:38888800-38889000	Active TSS	Brain Anterior Caudate	brain
6	chr14:38888800-38889000	Active TSS	Brain Substantia Nigra	brain
7	chr14:38888800-38889200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:38888800-38889200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:38888800-38889200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:38888800-38889200	Enhancers	Brain Cingulate Gyrus	brain
11	chr14:38888800-38889200	Active TSS	Brain Hippocampus Middle	brain
12	chr14:38888800-38889200	Active TSS	Fetal Brain Female	brain
13	chr14:38888800-38889200	Enhancers	Fetal Lung	lung
14	chr14:38888800-38889200	Enhancers	HepG2	liver
15	chr14:38888800-38889400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:38888800-38889400	Enhancers	HUVEC	blood vessel
17	chr14:38888800-38890000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:38888800-38890200	Enhancers	NHDF-Ad	bronchial
19	chr14:38888800-38890400	Enhancers	NHLF	lung
20	chr14:38889000-38889200	Enhancers	Aorta	Aorta
21	chr14:38889000-38889200	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr14:38889000-38889200	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr14:38889000-38889400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:38889000-38889400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:38889000-38889800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr14:38889200-38889600	Enhancers	Brain Anterior Caudate	brain
27	chr14:38889400-38890000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:38889400-38890000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:38890000-38890200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:38910800-38911600	Enhancers	Fetal Heart	heart
31	chr14:38911400-38911800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:38914800-38916200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:38937000-38937200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:38937600-38937800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:38937800-38944000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:38938200-38939800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr14:38944000-38944400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:38946200-38949200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:38949200-38975200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:38950800-38952200	Enhancers	Hela-S3	cervix
41	chr14:38951000-38951600	Enhancers	NHLF	lung
42	chr14:38951200-38951600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:38951200-38951600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr14:38951200-38951600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:38951200-38951800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:38958200-38975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:38965000-38966600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr14:38965200-38966600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr14:38971600-38972000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:38971600-38972000	Enhancers	NHDF-Ad	bronchial

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