Variant report

Variant	nsv111
Chromosome Location	chr15:55208707-55247202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:55202578..55205059-chr15:55214627..55217518,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC13C-3	chr15:55212817-55213114	ucExp_388_+
2	lnc-RSL24D1-3	chr15:55212817-55213114	ucExp_388_-

Extended variants
information (count: 1145 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143405532	chr15:55209437-55209438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533579285	chr15:55209441-55209442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556660991	chr15:55209449-55209450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553749656	chr15:55209482-55209483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113733199	chr15:55209512-55209513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148371663	chr15:55209555-55209556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78493996	chr15:55209568-55209569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555840044	chr15:55209573-55209574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1358527	chr15:55209655-55209656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545571118	chr15:55209669-55209670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565468754	chr15:55209690-55209691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141790842	chr15:55209767-55209768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8024876	chr15:55209775-55209776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs955890	chr15:55209781-55209782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7495046	chr15:55209797-55209798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555412323	chr15:55212866-55212867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs575132736	chr15:55212871-55212872	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs113871450	chr15:55212875-55212876	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs117494871	chr15:55212885-55212886	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs533396794	chr15:55212888-55212889	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs566054936	chr15:55212889-55212890	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115452305	chr15:55212890-55212891	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs376222574	chr15:55212931-55212932	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs78213681	chr15:55212950-55212951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs371834971	chr15:55212966-55212967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs111601454	chr15:55212975-55212976	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs537338058	chr15:55212977-55212978	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs112315704	chr15:55212987-55212988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs145681892	chr15:55212996-55212997	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs551623189	chr15:55213053-55213054	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs191276472	chr15:55213065-55213066	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534009795	chr15:55213079-55213080	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs575609209	chr15:55213106-55213107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs184188326	chr15:55225209-55225210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72738252	chr15:55225213-55225214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188131540	chr15:55225217-55225218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543351094	chr15:55225223-55225224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556569893	chr15:55225291-55225292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576412034	chr15:55225344-55225345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181037993	chr15:55225404-55225405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565246216	chr15:55225430-55225431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78233739	chr15:55225443-55225444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187381856	chr15:55225455-55225456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560344667	chr15:55225467-55225468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577322112	chr15:55225518-55225519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34284889	chr15:55225535-55225536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529071532	chr15:55225549-55225550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140341386	chr15:55225563-55225564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192063041	chr15:55225570-55225571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531471379	chr15:55225587-55225588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	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
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55209400-55209800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr15:55225200-55252800	Weak transcription	Aorta	Aorta
3	chr15:55232200-55233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:55243400-55244800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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