Variant report

Variant	esv18642
Chromosome Location	chr3:97904245-97909194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:97907135..97908282-chr3:98048120..98049025,6	MCF-7	breast:
2	chr3:97757849..97759434-chr3:97903672..97904727,17	MCF-7	breast:
3	chr3:97904894..97907628-chr3:98045904..98048505,2	K562	blood:
4	chr3:97907135..97908080-chr3:98062563..98063391,2	MCF-7	breast:
5	chr3:97758293..97759189-chr3:97903652..97904697,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MINA-6	chr3:97904268-97904295	NONHSAT090787

Extended variants
information (count: 363 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386663669	chr3:97904247-97904248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71618720	chr3:97904256-97904257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9848177	chr3:97904257-97904258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs9848199	chr3:97904293-97904294	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564647511	chr3:97904335-97904336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151338372	chr3:97904354-97904355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559848517	chr3:97904358-97904359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67055113	chr3:97904379-97904380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545907227	chr3:97904385-97904386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562618269	chr3:97904393-97904394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386663671	chr3:97904412-97904413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71113891	chr3:97904422-97904423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67479571	chr3:97904453-97904454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs561547008	chr3:97904477-97904478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373734702	chr3:97904481-97904482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs66496940	chr3:97904505-97904506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs67894920	chr3:97904531-97904532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386663672	chr3:97904555-97904556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13088901	chr3:97904563-97904564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189432739	chr3:97904566-97904567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537967507	chr3:97904568-97904569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13088925	chr3:97904594-97904595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs13084315	chr3:97904616-97904617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140605913	chr3:97904652-97904653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13084481	chr3:97904673-97904674	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13089085	chr3:97904680-97904681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545841900	chr3:97904685-97904686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150445255	chr3:97904687-97904688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570012424	chr3:97904706-97904707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576171024	chr3:97904711-97904712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541964712	chr3:97904720-97904721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561275681	chr3:97904731-97904732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145361645	chr3:97904761-97904762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540559693	chr3:97904769-97904770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560869674	chr3:97904817-97904818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532359543	chr3:97904829-97904830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552120780	chr3:97904874-97904875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374775866	chr3:97904883-97904884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13069991	chr3:97904885-97904886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7429620	chr3:97904897-97904898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531647118	chr3:97904901-97904902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548672149	chr3:97904908-97904909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13090781	chr3:97904911-97904912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201111693	chr3:97904946-97904947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376995144	chr3:97904948-97904949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553759088	chr3:97904960-97904961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57616527	chr3:97904961-97904962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80001903	chr3:97904964-97904965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13070139	chr3:97904965-97904966	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs539759923	chr3:97904981-97904982	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:24 , 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	chr3:97902200-97906400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:97902200-97907200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:97902400-97907000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:97906400-97906800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:97906800-97907000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:97906800-97907000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:97906800-97908000	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:97906800-97908400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:97907000-97907400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr3:97907000-97908000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:97907000-97908000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:97907000-97908200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:97907000-97910200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:97907200-97907600	Enhancers	Primary T cells from cord blood	blood
16	chr3:97907200-97907600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:97907200-97907600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:97907200-97907600	Enhancers	GM12878-XiMat	blood
19	chr3:97907200-97907800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:97907400-97908400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr3:97908200-97908600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:97908400-97910000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:97908600-97908800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:97908800-97910800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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