Variant report

Variant	nsv517384
Chromosome Location	chr14:45060617-45250418
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:38)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
2	chr14:45227214..45228776-chr14:45264086..45266649,2	MCF-7	breast:
3	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:
4	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
5	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
6	chr14:45234847..45238441-chr14:45239619..45243336,5	MCF-7	breast:
7	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
8	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
9	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
10	chr14:45239191..45241176-chr14:45269826..45272768,2	MCF-7	breast:
11	chr14:44838296..44838875-chr14:45126583..45127520,3	MCF-7	breast:
12	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
13	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
14	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
15	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
16	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
17	chr14:45235346..45237899-chr17:57923729..57925235,2	MCF-7	breast:
18	chr14:45226640..45228814-chr14:45238544..45240858,2	MCF-7	breast:
19	chr14:45231102..45232656-chr14:45234891..45237559,2	MCF-7	breast:
20	chr14:45234847..45238441-chr14:45239619..45243336,5	MCF-7	breast:
21	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
22	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
23	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
24	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
25	chr14:45230477..45232616-chr14:45235679..45238276,2	MCF-7	breast:
26	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
27	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
28	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
29	chr14:45071494..45073529-chr14:45073607..45075703,2	MCF-7	breast:
30	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:
31	chr14:45117709..45119759-chr14:45126176..45128721,2	MCF-7	breast:
32	chr14:45240732..45243141-chr14:45252414..45254832,3	MCF-7	breast:
33	chr14:44922572..44923387-chr14:45126451..45127121,2	MCF-7	breast:
34	chr14:45126668..45127459-chr14:45315563..45316088,2	MCF-7	breast:
35	chr14:45105348..45106907-chr14:45108669..45111586,2	MCF-7	breast:
36	chr14:45071494..45073529-chr14:45073607..45075703,2	MCF-7	breast:
37	chr14:45082497..45084291-chr14:45088461..45090212,2	MCF-7	breast:
38	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KLHL28-3	chr14:45237198-45237332	ENSG00000258998
2	lnc-KLHL28-3	chr14:45234599-45234838	XLOC_011008
3	lnc-KLHL28-3	chr14:45232360-45234829	ENSG00000258998
4	lnc-KLHL28-3	chr14:45235422-45235537	XLOC_011008
5	lnc-KLHL28-3	chr14:45237198-45237332	XLOC_011008
6	lnc-KLHL28-3	chr14:45235422-45235537	XLOC_011008
7	lnc-KLHL28-3	chr14:45234277-45234304	XLOC_011008
8	lnc-KLHL28-3	chr14:45237198-45237334	XLOC_011008
9	lnc-KLHL28-3	chr14:45234697-45234838	XLOC_011008
10	lnc-KLHL28-3	chr14:45235514-45235537	ENSG00000258998

No data

Variant related genes	Relation type
ENSG00000201524	chromatin interactions
SMAD1	miRNA target sites
SMAD2	miRNA target sites

Extended variants
information (count: 3432 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:3432 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191251229	chr14:45071626-45071627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569969794	chr14:45071628-45071629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373165687	chr14:45071636-45071637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377576294	chr14:45071641-45071642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551400989	chr14:45071649-45071650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549275341	chr14:45071658-45071659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567473382	chr14:45071679-45071680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534884227	chr14:45071695-45071696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564728456	chr14:45071765-45071766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114643291	chr14:45071799-45071800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571306922	chr14:45071806-45071807	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs538384207	chr14:45071841-45071842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182631604	chr14:45071869-45071870	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs575150229	chr14:45071871-45071872	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79570102	chr14:45071966-45071967	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs186964087	chr14:45071989-45071990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs74810682	chr14:45071990-45071991	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540410218	chr14:45072064-45072065	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs76583542	chr14:45072078-45072079	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs114643020	chr14:45072118-45072119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs191333273	chr14:45072138-45072139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145640228	chr14:45072195-45072196	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139083180	chr14:45072204-45072205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142387821	chr14:45072214-45072215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116452796	chr14:45072227-45072228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567104127	chr14:45072301-45072302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547150136	chr14:45072317-45072318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571770986	chr14:45072342-45072343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538695957	chr14:45072348-45072349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550416403	chr14:45072354-45072355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568825760	chr14:45072386-45072387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs183451522	chr14:45072439-45072440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140166475	chr14:45072463-45072464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543758620	chr14:45072466-45072467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532144558	chr14:45072543-45072544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148940963	chr14:45078601-45078602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546140988	chr14:45078603-45078604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1538612	chr14:45078663-45078664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143180022	chr14:45078671-45078672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181253531	chr14:45078687-45078688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535754162	chr14:45078703-45078704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs143791401	chr14:45078719-45078720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566081679	chr14:45078768-45078769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75278677	chr14:45078781-45078782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528489243	chr14:45078788-45078789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12885548	chr14:45078799-45078800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186276498	chr14:45078821-45078822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542830923	chr14:45078879-45078880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375421106	chr14:45078889-45078890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140273798	chr14:45078966-45078967	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45071600-45071800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:45071800-45072200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:45071800-45072200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr14:45071800-45072600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:45072000-45072600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr14:45072200-45072400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:45078600-45079600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:45078800-45079600	Enhancers	Fetal Muscle Leg	muscle
9	chr14:45079200-45079600	Enhancers	NHDF-Ad	bronchial
10	chr14:45085600-45087000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:45087000-45089600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:45088800-45090200	Enhancers	Fetal Kidney	kidney
13	chr14:45089000-45090000	Enhancers	Ovary	ovary
14	chr14:45089000-45090400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:45089200-45091000	Enhancers	Fetal Heart	heart
16	chr14:45089600-45090000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:45089600-45090200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:45090000-45091000	Weak transcription	Ovary	ovary
19	chr14:45091000-45091600	Enhancers	Ovary	ovary
20	chr14:45091600-45094200	Weak transcription	Ovary	ovary
21	chr14:45094200-45094800	Enhancers	Ovary	ovary
22	chr14:45103800-45106800	Enhancers	Fetal Lung	lung
23	chr14:45104000-45104200	Enhancers	Ovary	ovary
24	chr14:45104200-45108000	Weak transcription	Ovary	ovary
25	chr14:45106800-45108400	Weak transcription	Fetal Lung	lung
26	chr14:45107800-45109800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:45108000-45109200	Enhancers	Ovary	ovary
28	chr14:45108400-45109000	Enhancers	Fetal Lung	lung
29	chr14:45108600-45109000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr14:45108600-45109600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:45108600-45109800	Enhancers	Fetal Kidney	kidney
32	chr14:45109000-45109400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:45109000-45109800	Flanking Active TSS	Fetal Lung	lung
34	chr14:45109200-45109600	Weak transcription	Ovary	ovary
35	chr14:45109400-45110200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr14:45109600-45110200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:45109600-45110200	Enhancers	Ovary	ovary
38	chr14:45109800-45110200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:45109800-45110400	Enhancers	Fetal Lung	lung
40	chr14:45117600-45118600	Enhancers	Fetal Heart	heart
41	chr14:45118600-45126000	Weak transcription	Fetal Heart	heart
42	chr14:45121000-45124200	Enhancers	Fetal Lung	lung
43	chr14:45122400-45123600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:45122800-45123200	Enhancers	Fetal Brain Male	brain
45	chr14:45122800-45123200	Enhancers	Fetal Stomach	stomach
46	chr14:45123600-45126000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:45123800-45124000	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr14:45124200-45125800	Weak transcription	Fetal Lung	lung
49	chr14:45125800-45128000	Enhancers	Fetal Lung	lung
50	chr14:45126000-45126800	Enhancers	Liver	Liver

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