Variant report

Variant	nsv591046
Chromosome Location	chr3:97906585-97908143
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..97908282-chr3:98048120..98049025,6	MCF-7	breast:
3	chr3:97907135..97908080-chr3:98062563..98063391,2	MCF-7	breast:

Extended variants
information (count: 116 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34776005	chr3:97906585-97906586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182232193	chr3:97906600-97906601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552843829	chr3:97906602-97906603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35915850	chr3:97906610-97906611	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs73853267	chr3:97906646-97906647	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564882384	chr3:97906649-97906650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187737968	chr3:97906664-97906665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72922871	chr3:97906680-97906681	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs386663676	chr3:97906708-97906709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73853270	chr3:97906716-97906717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs113619073	chr3:97906743-97906744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34424109	chr3:97906746-97906747	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs113252883	chr3:97906755-97906756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139092941	chr3:97906759-97906760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552728094	chr3:97906778-97906779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs67472895	chr3:97906843-97906844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528743056	chr3:97906845-97906846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552084640	chr3:97906849-97906850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149866213	chr3:97906856-97906857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34290035	chr3:97906878-97906879	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550674086	chr3:97906882-97906883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73135346	chr3:97906887-97906888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536306738	chr3:97906932-97906933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73135348	chr3:97906942-97906943	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535805036	chr3:97906946-97906947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35625467	chr3:97906949-97906950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572695122	chr3:97906958-97906959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73135351	chr3:97906971-97906972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558414126	chr3:97906986-97906987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35100128	chr3:97906992-97906993	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34931487	chr3:97907001-97907002	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs34800460	chr3:97907017-97907018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574415665	chr3:97907052-97907053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539949536	chr3:97907061-97907062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34924704	chr3:97907062-97907063	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs528683669	chr3:97907066-97907067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143878219	chr3:97907069-97907070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565503609	chr3:97907071-97907072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552814239	chr3:97907085-97907086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370635073	chr3:97907087-97907088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72925195	chr3:97907093-97907094	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541420868	chr3:97907118-97907119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148577126	chr3:97907125-97907126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191268510	chr3:97907129-97907130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530152766	chr3:97907144-97907145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202054554	chr3:97907147-97907148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375423951	chr3:97907148-97907149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546755274	chr3:97907153-97907154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566659005	chr3:97907160-97907161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562984362	chr3:97907161-97907162	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:97902000-97907000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr3:97902200-97907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:97902400-97907000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:97906400-97906800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:97906800-97907000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:97906800-97907000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:97906800-97908000	Enhancers	Primary hematopoietic stem cells	blood
8	chr3:97906800-97908400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:97907000-97907400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:97907000-97908000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:97907000-97908000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:97907000-97908200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:97907000-97910200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:97907200-97907600	Enhancers	Primary T cells from cord blood	blood
15	chr3:97907200-97907600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:97907200-97907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:97907200-97907600	Enhancers	GM12878-XiMat	blood
18	chr3:97907200-97907800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:97907400-97908400	Enhancers	HUES6 Cell Line	embryonic stem cell

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