Variant report

Variant	nsv1037223
Chromosome Location	chr14:38950249-39044313
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:8)
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	chr14:38961025..38963997-chr14:38965600..38967943,2	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	chr14:38961025..38963997-chr14:38965600..38967943,2	MCF-7	breast:
5	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:
6	chr14:38992976..38994987-chr14:38997172..38999955,2	MCF-7	breast:
7	chr14:38987319..38989773-chr14:39001205..39003532,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR1-6	chr14:39013726-39013910	l_972_chr14:39013725-39019303_testes
2	lnc-SSTR1-6	chr14:39018824-39019303	l_972_chr14:39013725-39019303_testes
3	lnc-SSTR1-5	chr14:39009273-39009709	l_971_chr14:38971570-39013700_testes
4	lnc-SSTR1-6	chr14:39031210-39032466	l_972_chr14:39013725-39019303_testes
5	lnc-SSTR1-5	chr14:39013489-39013700	l_971_chr14:38971570-39013700_testes
6	lnc-SSTR1-5	chr14:38971571-38971630	l_971_chr14:38971570-39013700_testes
7	lnc-SSTR1-6	chr14:39023972-39024247	l_972_chr14:39013725-39019303_testes
8	lnc-SSTR1-5	chr14:38973050-38973650	l_971_chr14:38971570-39013700_testes

No data

Extended variants
information (count: 2879 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2879 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74381413	chr14:38950251-38950252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532598254	chr14:38950263-38950264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139096164	chr14:38950283-38950284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112407780	chr14:38950289-38950290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187256009	chr14:38950375-38950376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528504263	chr14:38950416-38950417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146909419	chr14:38950448-38950449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374874244	chr14:38950463-38950464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568378950	chr14:38950474-38950475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537366660	chr14:38950528-38950529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71433972	chr14:38950541-38950542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34203254	chr14:38950549-38950550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201267190	chr14:38950550-38950551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199717518	chr14:38950553-38950554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557083066	chr14:38950565-38950566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116396535	chr14:38950592-38950593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539520215	chr14:38950657-38950658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552823256	chr14:38950688-38950689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369000634	chr14:38950694-38950695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535073987	chr14:38950708-38950709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190459161	chr14:38950778-38950779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114749161	chr14:38950806-38950807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143251271	chr14:38950855-38950856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1815596	chr14:38950916-38950917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577806923	chr14:38950947-38950948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183713529	chr14:38950961-38950962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377733497	chr14:38950991-38950992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528599863	chr14:38951012-38951013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116250509	chr14:38951013-38951014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1815595	chr14:38951014-38951015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188738541	chr14:38951018-38951019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112993349	chr14:38951032-38951033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs193281146	chr14:38951037-38951038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144782485	chr14:38951077-38951078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148232991	chr14:38951079-38951080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546643675	chr14:38951159-38951160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184258179	chr14:38951162-38951163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567961984	chr14:38951168-38951169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566417573	chr14:38951215-38951216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1815594	chr14:38951244-38951245	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs78150421	chr14:38951260-38951261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575351112	chr14:38951385-38951386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547008192	chr14:38951387-38951388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187736109	chr14:38951436-38951437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12588539	chr14:38951441-38951442	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540016685	chr14:38951487-38951488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141206519	chr14:38951521-38951522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569113572	chr14:38951562-38951563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12878980	chr14:38951604-38951605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191362187	chr14:38951690-38951691	Weak transcription Enhancers	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:167 , 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	chr14:38950800-38952200	Enhancers	Hela-S3	cervix
3	chr14:38951000-38951600	Enhancers	NHLF	lung
4	chr14:38951200-38951600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:38951200-38951600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr14:38951200-38951600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:38951200-38951800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:38958200-38975600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:38965000-38966600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr14:38965200-38966600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:38971600-38972000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:38971600-38972000	Enhancers	NHDF-Ad	bronchial
13	chr14:38972000-38974400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:38974200-38975600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr14:38974400-38974600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:38974400-38975600	Enhancers	Fetal Brain Male	brain
17	chr14:38974400-38975800	Enhancers	Brain Germinal Matrix	brain
18	chr14:38974400-38976000	Enhancers	Ovary	ovary
19	chr14:38974600-38975000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:38974800-38975200	Enhancers	NHLF	lung
21	chr14:38975000-38975600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:38975000-38975600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:38975000-38975600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:38975000-38975800	Enhancers	Brain Angular Gyrus	brain
25	chr14:38975000-38975800	Enhancers	Fetal Brain Female	brain
26	chr14:38975000-38976400	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr14:38975200-38975400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:38975200-38975800	Enhancers	Psoas Muscle	Psoas
29	chr14:38975200-38976600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:38975400-38976200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:38975600-38975800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:38975600-38976800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:38975800-38976400	Weak transcription	Psoas Muscle	Psoas
34	chr14:38976000-38976600	Weak transcription	Ovary	ovary
35	chr14:38976200-38978200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:38976400-38976600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr14:38976600-38976800	Enhancers	Ovary	ovary
38	chr14:38976600-38976800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:38976600-38982200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:38976800-38977000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr14:38976800-38977800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:38977000-38977200	Enhancers	Psoas Muscle	Psoas
43	chr14:38977000-38977200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:38982200-38982600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr14:38982600-38992000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:38988600-38989000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:38989000-38991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:38989600-38990400	Active TSS	Liver	Liver
49	chr14:38990400-38990600	Enhancers	Liver	Liver
50	chr14:38990600-38990800	Flanking Active TSS	Liver	Liver

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