Variant report

Variant	nsv978157
Chromosome Location	chr16:59788135-59788739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:59788728-59788778	A549	lung:	n/a
2	chr16:59788728-59788778	SK-N-SH	brain:	n/a
3	chr16:59788728-59788778	PrEC	prostate:	n/a
4	chr16:59788728-59788778	MCF10A-Er-Src	breast:	n/a
5	chr16:59788728-59788778	NB4	blood:	n/a
6	chr16:59788728-59788778	ovcar-3	ovarian:	n/a
7	chr16:59788728-59788778	HNPCEpiC	eye:	n/a
8	chr16:59788728-59788778	AG09309	skin:	n/a
9	chr16:59788728-59788778	BJ	skin:	n/a
10	chr16:59788728-59788778	HEEpiC	esophagus:	n/a
11	chr16:59788728-59788778	HPAEpiC	pulmonary alveolar:	n/a
12	chr16:59788728-59788778	SK-N-SH_RA	brain:	n/a
13	chr16:59788728-59788778	HL-60	blood:	n/a
14	chr16:59788728-59788778	ECC-1	luminal epithelium:	n/a
15	chr16:59788728-59788778	NH-A	brain:	n/a
16	chr16:59788728-59788778	IMR90	lung:	fetal
17	chr16:59788728-59788778	Caco-2	colon:	n/a
18	chr16:59788728-59788778	SKMC	muscle:	n/a
19	chr16:59788728-59788778	HCM	heart:	n/a
20	chr16:59788728-59788778	NHDF-neo	bronchial:	n/a
21	chr16:59788728-59788778	U87	brain:	n/a
22	chr16:59788728-59788778	Hepatocyte	liver:	n/a
23	chr16:59788728-59788778	HMEC	breast:	n/a
24	chr16:59788728-59788778	RPTEC	kidney:	n/a
25	chr16:59788728-59788778	HepG2	liver:	n/a
26	chr16:59788728-59788778	PFSK-1	brain:	n/a
27	chr16:59788728-59788778	MCF-7	breast:	n/a
28	chr16:59788728-59788778	Hela-S3	cervix:	n/a
29	chr16:59788728-59788778	HRE	kidney:	n/a
30	chr16:59788728-59788778	HEK293	kidney:	embryo
31	chr16:59788728-59788778	H1-hESC	embryonic stem cell:	embryo
32	chr16:59788728-59788778	AG04449	skin:	fetal
33	chr16:59788728-59788778	HCT-116	colon:	n/a
34	chr16:59788728-59788778	GM06990	blood:	n/a
35	chr16:59788728-59788778	BE2_C	brain:	n/a
36	chr16:59788728-59788778	GM12892	blood:	n/a
37	chr16:59788728-59788778	GM19239	blood:	n/a
38	chr16:59788728-59788778	SK-N-MC	brain:	n/a
39	chr16:59788728-59788778	T-47D	breast:	n/a
40	chr16:59788728-59788778	HIPEpiC	eye:	n/a
41	chr16:59788728-59788778	LNCaP	prostate:	n/a
42	chr16:59788728-59788778	AoSMC	blood vessel:	n/a
43	chr16:59788728-59788778	K562	blood:	n/a
44	chr16:59788728-59788778	HCF	heart:	n/a
45	chr16:59788728-59788778	HUVEC	blood vessel:	n/a
46	chr16:59788728-59788778	Jurkat	blood:	n/a
47	chr16:59788728-59788778	NHBE	bronchial:	n/a
48	chr16:59788728-59788778	PANC-1	pancreas:	n/a
49	chr16:59788728-59788778	CMK	blood:	n/a
50	chr16:59788728-59788778	GM12878	blood:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-105C20.2.1-5	chr16:59788045-59789095	NONHSAT142893
2	lnc-RP11-105C20.2.1-5	chr16:59788689-59788752	NONHSAT142892
3	lnc-RP11-105C20.2.1-5	chr16:59788365-59788930	NONHSAT142894

No data

Variant related genes	Relation type
ENSG00000260240	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75810291	chr16:59788139-59788140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs547147452	chr16:59788158-59788159	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs565743724	chr16:59788163-59788164	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs75155204	chr16:59788169-59788170	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs529027136	chr16:59788179-59788180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs373251967	chr16:59788185-59788186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs554548542	chr16:59788320-59788321	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs570786742	chr16:59788322-59788323	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs538111341	chr16:59788326-59788327	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2289825	chr16:59788362-59788363	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577788654	chr16:59788416-59788417	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs545177005	chr16:59788426-59788427	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs72785855	chr16:59788442-59788443	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs572493655	chr16:59788482-59788483	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs28485760	chr16:59788519-59788520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs542800153	chr16:59788598-59788599	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs561288613	chr16:59788607-59788608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs531745991	chr16:59788620-59788621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs543705893	chr16:59788637-59788638	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs565197756	chr16:59788640-59788641	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs78826389	chr16:59788649-59788650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs547552569	chr16:59788658-59788659	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs565775413	chr16:59788659-59788660	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs560620715	chr16:59788692-59788693	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs186200861	chr16:59788717-59788718	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs191005614	chr16:59788718-59788719	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59788200-59811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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