Variant report

Variant	nsv963343
Chromosome Location	chr3:97927216-97927805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373863141	chr3:97927220-97927221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200812433	chr3:97927244-97927245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558500093	chr3:97927282-97927283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575608021	chr3:97927283-97927284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528076950	chr3:97927291-97927292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561175216	chr3:97927323-97927324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529666155	chr3:97927325-97927326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386663708	chr3:97927329-97927330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568200899	chr3:97927334-97927335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146383304	chr3:97927347-97927348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185883498	chr3:97927375-97927376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532139766	chr3:97927376-97927377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9842806	chr3:97927389-97927390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116526030	chr3:97927421-97927422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531021119	chr3:97927424-97927425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550818514	chr3:97927442-97927443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534329231	chr3:97927461-97927462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190054665	chr3:97927465-97927466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536212409	chr3:97927476-97927477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546712439	chr3:97927487-97927488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566936987	chr3:97927504-97927505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140195845	chr3:97927513-97927514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558708431	chr3:97927522-97927523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56408745	chr3:97927538-97927539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs145512191	chr3:97927541-97927542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574524396	chr3:97927576-97927577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554874526	chr3:97927583-97927584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181749497	chr3:97927600-97927601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540206835	chr3:97927619-97927620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199916678	chr3:97927620-97927621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559919507	chr3:97927623-97927624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576866219	chr3:97927626-97927627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545618578	chr3:97927632-97927633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368967201	chr3:97927655-97927656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117277167	chr3:97927673-97927674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7640900	chr3:97927677-97927678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7633244	chr3:97927684-97927685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs186839357	chr3:97927721-97927722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530356486	chr3:97927741-97927742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544198659	chr3:97927769-97927770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75234164	chr3:97927784-97927785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115564155	chr3:97927794-97927795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113067624	chr3:97927795-97927796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75035653	chr3:97927800-97927801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386663709	chr3:97927803-97927804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569396521	chr3:97927804-97927805	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97917800-97927600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:97923600-97927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:97926600-97927600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:97927600-97927800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:97927600-97928200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:97927600-97928400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr3:97927600-97928800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:97927600-97928800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:97927800-97928200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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