Variant report

Variant	nsv901702
Chromosome Location	chr14:41579517-41605556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 683 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150522155	chr14:41579633-41579634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370104412	chr14:41579669-41579670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115259781	chr14:41579689-41579690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10140883	chr14:41579712-41579713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs532163384	chr14:41579751-41579752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550568438	chr14:41579756-41579757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114291133	chr14:41579834-41579835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528277730	chr14:41579842-41579843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535929969	chr14:41579896-41579897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10141367	chr14:41579904-41579905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs542967459	chr14:41579906-41579907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566598191	chr14:41579920-41579921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533969727	chr14:41579921-41579922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558442601	chr14:41579938-41579939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561695897	chr14:41579943-41579944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182286950	chr14:41579965-41579966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186692855	chr14:41579984-41579985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144013953	chr14:41579990-41579991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372588136	chr14:41579991-41579992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59079399	chr14:41580009-41580010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77570401	chr14:41580010-41580011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57557702	chr14:41580013-41580014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574763700	chr14:41580062-41580063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149281062	chr14:41580103-41580104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8010854	chr14:41580134-41580135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs535587100	chr14:41580156-41580157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34842712	chr14:41580162-41580163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551782287	chr14:41580200-41580201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568639292	chr14:41580201-41580202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74266285	chr14:41580209-41580210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572585077	chr14:41580210-41580211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546386742	chr14:41580216-41580217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564793654	chr14:41580223-41580224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531998041	chr14:41580232-41580233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563827600	chr14:41580302-41580303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147373568	chr14:41580304-41580305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140108259	chr14:41580334-41580335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145520155	chr14:41580391-41580392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548008719	chr14:41580426-41580427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs67822297	chr14:41580432-41580433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368967494	chr14:41580463-41580464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147327813	chr14:41580507-41580508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551904719	chr14:41580510-41580511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113675398	chr14:41580568-41580569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576427463	chr14:41580601-41580602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17111456	chr14:41580624-41580625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs17668692	chr14:41580656-41580657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs148784165	chr14:41580661-41580662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372546371	chr14:41580689-41580690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535823035	chr14:41580709-41580710	Weak transcription	n/a	n/a	Overlapped CNVs	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41579600-41592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41585600-41589400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:41589400-41590000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:41590000-41592600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:41592400-41593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:41592600-41593000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:41595600-41596000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:41596000-41599000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:41605200-41606000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:41605400-41606200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:41605400-41606400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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