Variant report

Variant	nsv822199
Chromosome Location	chr3:99915143-99925003
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:4)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:2052488..2053195-chr3:99924648..99925466,2	MCF-7	breast:
2	chr2:201727914..201730081-chr3:99923240..99926220,2	MCF-7	breast:
3	chr3:99907272..99908973-chr3:99914282..99915902,2	K562	blood:
4	chr3:99907736..99909748-chr3:99916221..99918037,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FILIP1L-4	chr3:99915703-99916032	l_2415_chr3:99915518-99934155_kidney
2	lnc-FILIP1L-4	chr3:99915519-99915654	l_2415_chr3:99915518-99934155_kidney
3	lnc-FILIP1L-4	chr3:99919953-99920059	l_2415_chr3:99915518-99934155_kidney
4	lnc-FILIP1L-4	chr3:99917129-99917328	l_2415_chr3:99915518-99934155_kidney
5	lnc-FILIP1L-4	chr3:99916910-99917086	l_2415_chr3:99915518-99934155_kidney

No data

Variant related genes	Relation type
ENSG00000252759	chromatin interactions
ENSG00000013441	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561750086	chr3:99915340-99915341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528960181	chr3:99915343-99915344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189484985	chr3:99915419-99915420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113505373	chr3:99915478-99915479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529113642	chr3:99915492-99915493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141710001	chr3:99915493-99915494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113793195	chr3:99915555-99915556	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs80135649	chr3:99915619-99915620	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs386397402	chr3:99915620-99915621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs76679854	chr3:99915621-99915622	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs34670761	chr3:99915634-99915635	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs551379988	chr3:99915668-99915669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181919059	chr3:99915708-99915709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs527660524	chr3:99915825-99915826	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549103550	chr3:99915830-99915831	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs567437428	chr3:99915835-99915836	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs537924594	chr3:99915859-99915860	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs80013985	chr3:99915886-99915887	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
19	rs551652964	chr3:99915931-99915932	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
20	rs9850382	chr3:99915939-99915940	Enhancers ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs554146815	chr3:99915962-99915963	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs572909815	chr3:99915963-99915964	Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs540248204	chr3:99916003-99916004	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs147063232	chr3:99916019-99916020	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs370514982	chr3:99916025-99916026	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs573779981	chr3:99916055-99916056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543929467	chr3:99916058-99916059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562741318	chr3:99916167-99916168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533519029	chr3:99916176-99916177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114598646	chr3:99916179-99916180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545316224	chr3:99916210-99916211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148106157	chr3:99916213-99916214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186501537	chr3:99916217-99916218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs527551141	chr3:99916226-99916227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140943786	chr3:99916227-99916228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549086113	chr3:99916232-99916233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544841715	chr3:99916239-99916240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567277369	chr3:99916278-99916279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190493002	chr3:99916285-99916286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181536782	chr3:99916326-99916327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571837522	chr3:99916350-99916351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538840991	chr3:99916352-99916353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554372876	chr3:99916386-99916387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80195267	chr3:99916431-99916432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186283314	chr3:99916446-99916447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540404438	chr3:99916509-99916510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560191440	chr3:99916557-99916558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150188912	chr3:99916570-99916571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555965844	chr3:99916587-99916588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138663115	chr3:99916617-99916618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99912600-99915800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:99915800-99916000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr3:99915800-99916200	Enhancers	NHEK	skin
4	chr3:99915800-99916400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:99916200-99917000	Enhancers	Placenta	Placenta
6	chr3:99916400-99916800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:99916800-99917200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:99917000-99917600	Weak transcription	Placenta	Placenta
9	chr3:99917200-99917800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:99917400-99917800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:99917600-99918000	Enhancers	Lung	lung
12	chr3:99917600-99918200	Enhancers	Placenta	Placenta
13	chr3:99917600-99918400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:99917600-99928600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:99917800-99933000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:99920600-99922800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:99922800-99923000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr3:99923000-99928000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:99924000-99924400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:99924200-99924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:99924400-99928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:99924800-99928800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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