Variant report

Variant	esv3358347
Chromosome Location	chr12:105693757-105707693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APPL2-1	chr12:105702407-105702558	ENSG00000257642.1
2	lnc-APPL2-1	chr12:105698645-105698927	ENSG00000257642.1

Extended variants
information (count: 661 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:661 , 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	rs560621395	chr12:105693771-105693772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200612845	chr12:105693789-105693790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375318524	chr12:105693790-105693791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111229060	chr12:105693795-105693796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113001276	chr12:105693814-105693815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190700082	chr12:105693833-105693834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529298486	chr12:105693848-105693849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531315134	chr12:105693854-105693855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547912554	chr12:105693855-105693856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541373513	chr12:105693864-105693865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192853398	chr12:105693897-105693898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533810859	chr12:105693984-105693985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553655260	chr12:105693991-105693992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6539204	chr12:105694020-105694021	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs138657582	chr12:105694049-105694050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558985036	chr12:105694050-105694051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575680372	chr12:105694060-105694061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544707316	chr12:105694081-105694082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185308566	chr12:105694083-105694084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566760437	chr12:105694107-105694108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116291251	chr12:105694120-105694121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117969785	chr12:105694144-105694145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532735937	chr12:105694162-105694163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375136205	chr12:105694163-105694164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551253664	chr12:105694170-105694171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79383352	chr12:105694188-105694189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531275536	chr12:105694208-105694209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547904052	chr12:105694219-105694220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72487518	chr12:105694246-105694247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373837047	chr12:105694256-105694257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149955570	chr12:105694259-105694260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548663340	chr12:105694283-105694284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527302138	chr12:105694289-105694290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547283145	chr12:105694332-105694333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570439333	chr12:105694335-105694336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539600783	chr12:105694338-105694339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148906932	chr12:105694362-105694363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569851553	chr12:105694410-105694411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537904277	chr12:105694419-105694420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555108128	chr12:105694448-105694449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535445739	chr12:105694457-105694458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534232476	chr12:105694476-105694477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188525656	chr12:105694477-105694478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554483715	chr12:105694501-105694502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143589417	chr12:105694508-105694509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7966786	chr12:105694513-105694514	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116921428	chr12:105694514-105694515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148299874	chr12:105694516-105694517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141393916	chr12:105694535-105694536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147455149	chr12:105694549-105694550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105692200-105703600	Weak transcription	A549	lung
2	chr12:105692200-105708000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:105694600-105694800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:105694800-105695000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:105695000-105695200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:105695000-105695800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:105695000-105695800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:105695400-105708200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:105695800-105709200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:105696200-105701200	Weak transcription	HUVEC	blood vessel
11	chr12:105696200-105709400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:105696800-105697000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:105698000-105698200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:105698200-105702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:105698600-105698800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:105698800-105701200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:105699800-105700000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:105700000-105704000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:105700200-105702200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:105701200-105701800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr12:105701200-105701800	Enhancers	HUVEC	blood vessel
22	chr12:105701200-105702200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:105701400-105701800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:105701400-105701800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:105701800-105702400	Weak transcription	HUVEC	blood vessel
26	chr12:105701800-105703600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr12:105701800-105709400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:105702200-105702600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:105702200-105704200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:105702400-105702600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:105702400-105702600	Active TSS	Stomach Mucosa	stomach
32	chr12:105702400-105702600	Enhancers	HUVEC	blood vessel
33	chr12:105702600-105704000	Weak transcription	Stomach Mucosa	stomach
34	chr12:105702600-105706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:105702600-105709400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:105703000-105703200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:105703000-105704000	Enhancers	HepG2	liver
38	chr12:105703200-105704400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:105703600-105704200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:105703600-105704200	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:105703600-105705200	Enhancers	Liver	Liver
42	chr12:105703600-105705200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:105703600-105705400	Enhancers	A549	lung
44	chr12:105704000-105705400	Enhancers	Stomach Mucosa	stomach
45	chr12:105704000-105705800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:105704000-105705800	Enhancers	Hela-S3	cervix
47	chr12:105704000-105706400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:105704200-105704400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:105704200-105705200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:105704200-105705200	Enhancers	Aorta	Aorta

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