Variant report

Variant	nsv591053
Chromosome Location	chr3:97907062-97908381
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:97904894..97907628-chr3:98045904..98048505,2	K562	blood:
2	chr3:97907135..97908080-chr3:98062563..98063391,2	MCF-7	breast:
3	chr3:97907135..97908282-chr3:98048120..98049025,6	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34924704	chr3:97907062-97907063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528683669	chr3:97907066-97907067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143878219	chr3:97907069-97907070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565503609	chr3:97907071-97907072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552814239	chr3:97907085-97907086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370635073	chr3:97907087-97907088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72925195	chr3:97907093-97907094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541420868	chr3:97907118-97907119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148577126	chr3:97907125-97907126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191268510	chr3:97907129-97907130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530152766	chr3:97907144-97907145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202054554	chr3:97907147-97907148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375423951	chr3:97907148-97907149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546755274	chr3:97907153-97907154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566659005	chr3:97907160-97907161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562984362	chr3:97907161-97907162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538762483	chr3:97907162-97907163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67331743	chr3:97907166-97907167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183375271	chr3:97907175-97907176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537742386	chr3:97907199-97907200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34137690	chr3:97907201-97907202	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs574330620	chr3:97907207-97907208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35239283	chr3:97907220-97907221	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372886258	chr3:97907259-97907260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35734642	chr3:97907278-97907279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs370821801	chr3:97907280-97907281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80289759	chr3:97907288-97907289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114930110	chr3:97907289-97907290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs386663677	chr3:97907303-97907304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531175070	chr3:97907304-97907305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35817059	chr3:97907305-97907306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34044717	chr3:97907308-97907309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187923866	chr3:97907333-97907334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386663679	chr3:97907359-97907360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34250420	chr3:97907361-97907362	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34775658	chr3:97907373-97907374	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs552294429	chr3:97907382-97907383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35042029	chr3:97907404-97907405	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34305303	chr3:97907423-97907424	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs35515951	chr3:97907440-97907441	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35847759	chr3:97907470-97907471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs34609161	chr3:97907476-97907477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs553758265	chr3:97907534-97907535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142986136	chr3:97907540-97907541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35594582	chr3:97907553-97907554	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147713802	chr3:97907574-97907575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35694938	chr3:97907581-97907582	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142571335	chr3:97907586-97907587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs68030363	chr3:97907587-97907588	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530390218	chr3:97907611-97907612	Enhancers Weak transcription	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97902200-97907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:97906800-97908000	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:97906800-97908400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:97907000-97907400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:97907000-97908000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:97907000-97908000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:97907000-97908200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:97907000-97910200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:97907200-97907600	Enhancers	Primary T cells from cord blood	blood
10	chr3:97907200-97907600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr3:97907200-97907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:97907200-97907600	Enhancers	GM12878-XiMat	blood
13	chr3:97907200-97907800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:97907400-97908400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:97908200-97908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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