Variant report

Variant	esv3445639
Chromosome Location	chr15:49879810-49882008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP8B4-1	chr15:49880213-49880280	NONHSAT042382
2	lnc-ATP8B4-1	chr15:49881973-49882204	NONHSAT042381
3	lnc-ATP8B4-1	chr15:49881973-49882204	NONHSAT042382
4	lnc-ATP8B4-1	chr15:49880213-49880280	NONHSAT042381
5	lnc-ATP8B4-1	chr15:49881971-49882204	NONHSAT042383

Extended variants
information (count: 93 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59606072	chr15:49879863-49879864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369346597	chr15:49879887-49879888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527488346	chr15:49879904-49879905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75394815	chr15:49879906-49879907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567214234	chr15:49879910-49879911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537283302	chr15:49879933-49879934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537784041	chr15:49879956-49879957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557302964	chr15:49879975-49879976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569181192	chr15:49880012-49880013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73404194	chr15:49880039-49880040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557973982	chr15:49880051-49880052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117442553	chr15:49880063-49880064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534382232	chr15:49880087-49880088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190599411	chr15:49880089-49880090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574364426	chr15:49880131-49880132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544598468	chr15:49880137-49880138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373566125	chr15:49880140-49880141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182251328	chr15:49880151-49880152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371996147	chr15:49880169-49880170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375361662	chr15:49880176-49880177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373641467	chr15:49880187-49880188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368594090	chr15:49880191-49880192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559814749	chr15:49880203-49880204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201938075	chr15:49880210-49880211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143539780	chr15:49880216-49880217	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs150531376	chr15:49880239-49880240	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs554720443	chr15:49880251-49880252	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201076822	chr15:49880255-49880256	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs184983763	chr15:49880259-49880260	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs78578834	chr15:49880260-49880261	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs576491479	chr15:49880293-49880294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370598061	chr15:49880297-49880298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374956037	chr15:49880310-49880311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549815571	chr15:49880348-49880349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569185755	chr15:49880352-49880353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539445725	chr15:49880392-49880393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551839099	chr15:49880420-49880421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566952597	chr15:49880439-49880440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564852894	chr15:49880445-49880446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34409171	chr15:49880465-49880466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74012429	chr15:49880483-49880484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs574297173	chr15:49880522-49880523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538494073	chr15:49880531-49880532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543241576	chr15:49880543-49880544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578230003	chr15:49880743-49880744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544672066	chr15:49880744-49880745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559751909	chr15:49880745-49880746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556859418	chr15:49880752-49880753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71120695	chr15:49880793-49880794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375875353	chr15:49880799-49880800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49856200-49897400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr15:49863800-49881400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:49864800-49881600	Weak transcription	Brain Substantia Nigra	brain
4	chr15:49865000-49880400	Weak transcription	Fetal Lung	lung
5	chr15:49865400-49881400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:49865400-49881800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr15:49866800-49881200	Weak transcription	Primary T cells from cord blood	blood
8	chr15:49866800-49881600	Weak transcription	Pancreas	Pancrea
9	chr15:49866800-49897600	Weak transcription	Ovary	ovary
10	chr15:49867200-49881400	Weak transcription	Fetal Heart	heart
11	chr15:49868800-49892400	Weak transcription	Left Ventricle	heart
12	chr15:49878400-49880000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr15:49879000-49880600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:49879400-49881400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:49879400-49881400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:49879600-49880800	Weak transcription	Colon Smooth Muscle	Colon
17	chr15:49879600-49887600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:49881400-49881600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr15:49881400-49881600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr15:49881400-49881600	Enhancers	Hela-S3	cervix
21	chr15:49881400-49882000	Enhancers	Stomach Smooth Muscle	stomach
22	chr15:49881400-49882400	Enhancers	Brain Cingulate Gyrus	brain
23	chr15:49881400-49883400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:49881600-49882000	Enhancers	Brain Substantia Nigra	brain
25	chr15:49881800-49882000	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:49882000-49882800	Weak transcription	Brain Substantia Nigra	brain

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