Variant report

Variant	nsv977890
Chromosome Location	chr16:72602610-72604360
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	chr16:72601285..72603828-chr16:72609527..72611174,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2
2	lnc-PMFBP1-4	chr16:72604334-72604412	NONHSAT143568
3	lnc-PMFBP1-4	chr16:72604350-72604414	ENSG00000261008.2
4	lnc-PMFBP1-4	chr16:72604334-72604414	ENSG00000261008.2

Variant related genes	Relation type
NHSL2	miRNA target sites

Extended variants
information (count: 49 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1025330	chr16:72602611-72602612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191499294	chr16:72602623-72602624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537891858	chr16:72602629-72602630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16971036	chr16:72602649-72602650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183926984	chr16:72602684-72602685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186717773	chr16:72602701-72602702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560404925	chr16:72602735-72602736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193151003	chr16:72602858-72602859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546083776	chr16:72602891-72602892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564273634	chr16:72602931-72602932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185653125	chr16:72602960-72602961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543050526	chr16:72602964-72602965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561416672	chr16:72603073-72603074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs16971037	chr16:72603076-72603077	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs16971038	chr16:72603087-72603088	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567055953	chr16:72603117-72603118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544150168	chr16:72603141-72603142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527925879	chr16:72603143-72603144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552826591	chr16:72603179-72603180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190025894	chr16:72603229-72603230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571091473	chr16:72603433-72603434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560698482	chr16:72603470-72603471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538219924	chr16:72603471-72603472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556618408	chr16:72603533-72603534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140250554	chr16:72603549-72603550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535962455	chr16:72603550-72603551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553962923	chr16:72603555-72603556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370462261	chr16:72603562-72603563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572205075	chr16:72603563-72603564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545723013	chr16:72603582-72603583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181612655	chr16:72603583-72603584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558018761	chr16:72603611-72603612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528489422	chr16:72603631-72603632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145212917	chr16:72603634-72603635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542978617	chr16:72603641-72603642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561353325	chr16:72603666-72603667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184066142	chr16:72603710-72603711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564159552	chr16:72603728-72603729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34149393	chr16:72603731-72603732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528907194	chr16:72603769-72603770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146459050	chr16:72603811-72603812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200555415	chr16:72603854-72603855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559223310	chr16:72603870-72603871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs188408118	chr16:72603883-72603884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552523448	chr16:72603889-72603890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181138778	chr16:72603899-72603900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185181192	chr16:72603902-72603903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577030389	chr16:72603924-72603925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs16971039	chr16:72603988-72603989	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72602000-72603000	Enhancers	HepG2	liver
2	chr16:72602200-72603000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:72602600-72602800	Enhancers	Fetal Intestine Large	intestine
4	chr16:72602600-72603000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:72602600-72603000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:72602600-72604000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr16:72602800-72604000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:72602800-72604000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:72602800-72604000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:72603000-72603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr16:72603000-72603400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:72603400-72604000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:72603400-72604000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:72603400-72604000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr16:72603400-72604000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr16:72603400-72604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:72603600-72604000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:72603600-72604000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:72603600-72604000	Enhancers	Gastric	stomach

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