Variant report

Variant	nsv1040945
Chromosome Location	chr14:41043918-41161543
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	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
2	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
3	chr14:41080998..41082666-chr14:41082697..41084594,2	K562	blood:
4	chr14:41158914..41160637-chr14:41160728..41163383,2	MCF-7	breast:
5	chr14:41113572..41115996-chr14:41117287..41119749,2	MCF-7	breast:
6	chr14:41080998..41082666-chr14:41082697..41084594,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO33-4	chr14:41143707-41144144	l_973_chr14:41126919-41143836_ovary
2	lnc-FBXO33-4	chr14:41126920-41126997	l_973_chr14:41126919-41143836_ovary
3	lnc-FBXO33-4	chr14:41127113-41127240	l_973_chr14:41126919-41143836_ovary

No data

Extended variants
information (count: 1822 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1822 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546803476	chr14:41043940-41043941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192136004	chr14:41043947-41043948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113069489	chr14:41043949-41043950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548800366	chr14:41043979-41043980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76492367	chr14:41043988-41043989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376442302	chr14:41044000-41044001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537847615	chr14:41044001-41044002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557750891	chr14:41044002-41044003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28712265	chr14:41044013-41044014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs145836616	chr14:41044049-41044050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553562226	chr14:41044093-41044094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573345037	chr14:41044156-41044157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9783594	chr14:41044167-41044168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112500048	chr14:41044179-41044180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113774931	chr14:41044180-41044181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561858780	chr14:41044198-41044199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189518582	chr14:41044206-41044207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373414385	chr14:41044209-41044210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181698284	chr14:41044225-41044226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377414127	chr14:41044248-41044249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370740440	chr14:41044265-41044266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117645304	chr14:41044289-41044290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546569229	chr14:41044330-41044331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568598780	chr14:41044335-41044336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2899913	chr14:41044363-41044364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4318119	chr14:41044400-41044401	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184625346	chr14:41044417-41044418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79054685	chr14:41044437-41044438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188944390	chr14:41044520-41044521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2415621	chr14:41044527-41044528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs78154929	chr14:41044534-41044535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540165135	chr14:41044592-41044593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35667652	chr14:41044612-41044613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367653592	chr14:41044615-41044616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397831047	chr14:41044617-41044618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569146994	chr14:41044694-41044695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2899914	chr14:41044710-41044711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs2899915	chr14:41044728-41044729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72676201	chr14:41044800-41044801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138420798	chr14:41044846-41044847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575362181	chr14:41044865-41044866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540475674	chr14:41044881-41044882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544285182	chr14:41044956-41044957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557771632	chr14:41044994-41044995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577956137	chr14:41045025-41045026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561744406	chr14:41045072-41045073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149628188	chr14:41045117-41045118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181952924	chr14:41045126-41045127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144402556	chr14:41045143-41045144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12147713	chr14:41045173-41045174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41042600-41046200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:41043800-41044400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:41043800-41044400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:41043800-41044400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:41044000-41044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:41044000-41044400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr14:41044000-41044400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr14:41044000-41044600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:41044200-41044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:41044400-41045400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:41044400-41046000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:41045400-41046000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:41045800-41046400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:41046000-41046400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:41046000-41046400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:41046200-41046400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:41046200-41046600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:41046200-41046600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:41046400-41046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:41046600-41049800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:41049800-41050400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:41049800-41051000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:41050000-41051000	Enhancers	Fetal Brain Male	brain
24	chr14:41050400-41051000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:41059400-41060000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:41065600-41065800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr14:41069000-41069400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:41083000-41083600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:41083400-41088000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:41084200-41088000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr14:41084400-41088000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:41084400-41088200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:41084600-41085800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:41084800-41088200	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr14:41085000-41088000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:41085400-41088000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:41085800-41086800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:41086800-41087000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr14:41086800-41088000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr14:41087600-41087800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:41088000-41089600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:41089600-41089800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:41094000-41094400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr14:41094600-41098600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr14:41097800-41098000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:41097800-41098200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr14:41098000-41098400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:41098000-41098400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr14:41098000-41098600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:41098200-41098400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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