Variant report

Variant	nsv901690
Chromosome Location	chr14:41102907-41232118
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
2	chr14:40886812..40887593-chr14:41183727..41184438,2	MCF-7	breast:
3	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
4	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
5	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
6	chr14:40886743..40887636-chr14:41183711..41184631,4	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-4	chr14:41127113-41127240	l_973_chr14:41126919-41143836_ovary
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

No data

Extended variants
information (count: 2599 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2599 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1959261	chr14:41102907-41102908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs114383230	chr14:41102945-41102946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146585255	chr14:41102975-41102976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573191807	chr14:41102977-41102978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192435268	chr14:41103029-41103030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78512166	chr14:41103067-41103068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114761344	chr14:41103125-41103126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575581242	chr14:41103164-41103165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563036008	chr14:41103267-41103268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530212274	chr14:41103290-41103291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182938342	chr14:41103350-41103351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560587032	chr14:41103352-41103353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140339338	chr14:41103379-41103380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112982839	chr14:41103436-41103437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546139744	chr14:41103490-41103491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570906651	chr14:41103559-41103560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372299742	chr14:41103562-41103563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117919010	chr14:41103597-41103598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550387715	chr14:41103602-41103603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553935840	chr14:41103613-41103614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12885164	chr14:41103632-41103633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs12885322	chr14:41103660-41103661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78544229	chr14:41103690-41103691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35919160	chr14:41103733-41103734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78437126	chr14:41103743-41103744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201898589	chr14:41103745-41103746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149941725	chr14:41103799-41103800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10133739	chr14:41103813-41103814	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558936313	chr14:41103842-41103843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs552347669	chr14:41103846-41103847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577297951	chr14:41103850-41103851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs187485717	chr14:41103851-41103852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79025221	chr14:41103856-41103857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574889394	chr14:41103868-41103869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542015948	chr14:41103887-41103888	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs145005838	chr14:41103914-41103915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs117240114	chr14:41103953-41103954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552442994	chr14:41103963-41103964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs367685716	chr14:41120611-41120612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538990335	chr14:41120619-41120620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557392010	chr14:41120646-41120647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568182257	chr14:41120685-41120686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1953498	chr14:41120687-41120688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs554794181	chr14:41120721-41120722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12435230	chr14:41120725-41120726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532063950	chr14:41120729-41120730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540487982	chr14:41120730-41120731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34872305	chr14:41120767-41120768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557201990	chr14:41120782-41120783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565190945	chr14:41120783-41120784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41101200-41103800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41103800-41104000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:41120600-41131200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:41151600-41152000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:41151600-41152000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:41151800-41152200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41152000-41156600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:41152200-41155000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:41155000-41155400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:41156200-41157800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:41156400-41156600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:41156600-41157000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:41156600-41157400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr14:41156600-41157400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:41157400-41158000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:41158000-41163200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:41158600-41164200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:41162400-41163800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:41162400-41164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:41163000-41163600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:41163200-41163600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:41163200-41163800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:41163600-41164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:41163800-41164000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:41164000-41165200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:41164200-41165200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:41164400-41164600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:41164400-41165200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:41164400-41165200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:41164400-41165200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:41164400-41166400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:41164600-41165000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:41165000-41165400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:41171600-41182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:41174200-41174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:41174600-41175800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:41175200-41175800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:41175800-41186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:41177000-41177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:41181600-41185600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:41182600-41183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:41185600-41186000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:41185800-41187800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:41186000-41186400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:41186400-41187000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:41186400-41187000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:41186600-41187400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr14:41190800-41195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:41191400-41192200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:41205200-41207600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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