Variant report

Variant	nsv9138
Chromosome Location	chr14:41608328-41669937
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-1	chr14:41610037-41610251	NR_109758

Extended variants
information (count: 508 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182511225	chr14:41608338-41608339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543311986	chr14:41608354-41608355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554939237	chr14:41608370-41608371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529039358	chr14:41608387-41608388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143147245	chr14:41608388-41608389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147056666	chr14:41608400-41608401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79062177	chr14:41608417-41608418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533104371	chr14:41608445-41608446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138603602	chr14:41608459-41608460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563506479	chr14:41608463-41608464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530571902	chr14:41608511-41608512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549280473	chr14:41608523-41608524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567413131	chr14:41608581-41608582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149288979	chr14:41608604-41608605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546637523	chr14:41608654-41608655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550635856	chr14:41608689-41608690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550530923	chr14:41608715-41608716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538756657	chr14:41608719-41608720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557131148	chr14:41608726-41608727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569459194	chr14:41608729-41608730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144621504	chr14:41608736-41608737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555130108	chr14:41608763-41608764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573605345	chr14:41608767-41608768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540922704	chr14:41608781-41608782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186658470	chr14:41608801-41608802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191843989	chr14:41608813-41608814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545090422	chr14:41608816-41608817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563209624	chr14:41608822-41608823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183974868	chr14:41608840-41608841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10144693	chr14:41608905-41608906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10133936	chr14:41608911-41608912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113175055	chr14:41608912-41608913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542490673	chr14:41608932-41608933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560746987	chr14:41608938-41608939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528412065	chr14:41608965-41608966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576282080	chr14:41609018-41609019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187537471	chr14:41609020-41609021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10147100	chr14:41609061-41609062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76033490	chr14:41609075-41609076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192880985	chr14:41609115-41609116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375867244	chr14:41609117-41609118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185880570	chr14:41609153-41609154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377640362	chr14:41609232-41609233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551072901	chr14:41609263-41609264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145952231	chr14:41609278-41609279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536729552	chr14:41609279-41609280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202069231	chr14:41609306-41609307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200007492	chr14:41609307-41609308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201099120	chr14:41609314-41609315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36179239	chr14:41609320-41609321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41606200-41615800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr14:41611200-41613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41611400-41613800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:41613600-41613800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:41613600-41614000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:41613600-41614800	Enhancers	HMEC	breast
7	chr14:41613600-41615200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:41613800-41614400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:41613800-41615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:41614400-41616400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:41615000-41615200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:41615800-41616000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:41623000-41625400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:41623400-41623800	Weak transcription	Pancreas	Pancrea
15	chr14:41623400-41624000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr14:41623400-41626000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:41623800-41624000	ZNF genes & repeats	Pancreas	Pancrea
18	chr14:41640200-41640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:41640200-41640800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:41669600-41669800	Bivalent Enhancer	Left Ventricle	heart

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