Variant report

Variant	nsv1054631
Chromosome Location	chr14:41120485-41389845
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	chr14:41383629..41385317-chr14:41390343..41392614,2	K562	blood:
2	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
3	chr14:40886812..40887593-chr14:41183727..41184438,2	MCF-7	breast:
4	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
5	chr14:41377936..41380382-chr14:41413256..41415527,2	MCF-7	breast:
6	chr14:40886743..40887636-chr14:41183711..41184631,4	MCF-7	breast:
7	chr14:41285689..41286269-chr14:41888680..41889346,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-6	chr14:41324152-41324457	NONHSAT036561
2	lnc-FBXO33-4	chr14:41143707-41144144	l_973_chr14:41126919-41143836_ovary
3	lnc-FBXO33-4	chr14:41126920-41126997	l_973_chr14:41126919-41143836_ovary
4	lnc-LRFN5-6	chr14:41277531-41277622	NONHSAT036561
5	lnc-FBXO33-4	chr14:41127113-41127240	l_973_chr14:41126919-41143836_ovary
6	lnc-LRFN5-6	chr14:41274653-41274721	NONHSAT036561
7	lnc-LRFN5-6	chr14:41237036-41237101	NONHSAT036561

No data

Extended variants
information (count: 4141 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:4141 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367685716	chr14:41120611-41120612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538990335	chr14:41120619-41120620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557392010	chr14:41120646-41120647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568182257	chr14:41120685-41120686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1953498	chr14:41120687-41120688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554794181	chr14:41120721-41120722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12435230	chr14:41120725-41120726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532063950	chr14:41120729-41120730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540487982	chr14:41120730-41120731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34872305	chr14:41120767-41120768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557201990	chr14:41120782-41120783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565190945	chr14:41120783-41120784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577116927	chr14:41120784-41120785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544545049	chr14:41120810-41120811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562927058	chr14:41120825-41120826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117595956	chr14:41120842-41120843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188441286	chr14:41120849-41120850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539710583	chr14:41120862-41120863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12431989	chr14:41120897-41120898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs546483246	chr14:41120972-41120973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76536577	chr14:41121009-41121010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538929428	chr14:41121067-41121068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550929318	chr14:41121073-41121074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72669492	chr14:41121114-41121115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs536273820	chr14:41121194-41121195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555014859	chr14:41121216-41121217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539911780	chr14:41121267-41121268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573258311	chr14:41121288-41121289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560218324	chr14:41121320-41121321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558715811	chr14:41121351-41121352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180800888	chr14:41121404-41121405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114937959	chr14:41121414-41121415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544477857	chr14:41121426-41121427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373740278	chr14:41121430-41121431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562862236	chr14:41121450-41121451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575140669	chr14:41121456-41121457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138134799	chr14:41121476-41121477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560993970	chr14:41121485-41121486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555409474	chr14:41121489-41121490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79359995	chr14:41121505-41121506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35002941	chr14:41121550-41121551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80183889	chr14:41121555-41121556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532139274	chr14:41121556-41121557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75415898	chr14:41121557-41121558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201307470	chr14:41121558-41121559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565060385	chr14:41121563-41121564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201497383	chr14:41121565-41121566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201151695	chr14:41121568-41121569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532376980	chr14:41121583-41121584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544790149	chr14:41121584-41121585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41120600-41131200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41151600-41152000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41151600-41152000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:41151800-41152200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41152000-41156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr14:41152200-41155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41155000-41155400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:41156200-41157800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr14:41156400-41156600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:41156600-41157000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:41156600-41157400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:41156600-41157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:41157400-41158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:41158000-41163200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:41158600-41164200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:41162400-41163800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:41162400-41164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:41163000-41163600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:41163200-41163600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:41163200-41163800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:41163600-41164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:41163800-41164000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:41164000-41165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:41164200-41165200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:41164400-41164600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:41164400-41165200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:41164400-41165200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr14:41164400-41165200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:41164400-41166400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:41164600-41165000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:41165000-41165400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:41171600-41182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr14:41174200-41174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:41174600-41175800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:41175200-41175800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:41175800-41186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:41177000-41177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:41181600-41185600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:41182600-41183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr14:41185600-41186000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:41185800-41187800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr14:41186000-41186400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:41186400-41187000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:41186400-41187000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:41186600-41187400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
46	chr14:41190800-41195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr14:41191400-41192200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:41205200-41207600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr14:41206400-41207200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:41206400-41207400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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