Variant report

Variant	esv2751612
Chromosome Location	chr16:72633299-72651914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72651292..72654183-chr16:72655159..72657587,2	MCF-7	breast:
2	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
3	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:
4	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:
5	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
6	chr16:72622601..72625359-chr16:72638031..72640326,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2
2	lnc-PMFBP1-4	chr16:72651082-72651133	NONHSAT143568
3	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2
4	lnc-PMFBP1-4	chr16:72644281-72644638	NONHSAT143568
5	lnc-PMFBP1-4	chr16:72651238-72651452	ENSG00000261008.2
6	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2

No data

Variant related genes	Relation type
SFRS13A	miRNA target sites
CEPT1	miRNA target sites

Extended variants
information (count: 774 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:774 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12445485	chr16:72633305-72633306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147447438	chr16:72633309-72633310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555858361	chr16:72633311-72633312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575407121	chr16:72633404-72633405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533434457	chr16:72633456-72633457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561384699	chr16:72633483-72633484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139865022	chr16:72633486-72633487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143939360	chr16:72633521-72633522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557612579	chr16:72633542-72633543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186613921	chr16:72633555-72633556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536491825	chr16:72633568-72633569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144275903	chr16:72633611-72633612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562991957	chr16:72633615-72633616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529803488	chr16:72633630-72633631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548373483	chr16:72633650-72633651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566590128	chr16:72633705-72633706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534072936	chr16:72633764-72633765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552087953	chr16:72633773-72633774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570081583	chr16:72633794-72633795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148780016	chr16:72633809-72633810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142386099	chr16:72633810-72633811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574205736	chr16:72633811-72633812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576195875	chr16:72633816-72633817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191309503	chr16:72633854-72633855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548356840	chr16:72633899-72633900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573381965	chr16:72633927-72633928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569973012	chr16:72633957-72633958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543598059	chr16:72634056-72634057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540902812	chr16:72634070-72634071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115053508	chr16:72634108-72634109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577279891	chr16:72634133-72634134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544620066	chr16:72634171-72634172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556157085	chr16:72634196-72634197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373543448	chr16:72634197-72634198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79191795	chr16:72634202-72634203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374441857	chr16:72634228-72634229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183174208	chr16:72634243-72634244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560279786	chr16:72634288-72634289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561682430	chr16:72634294-72634295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79440651	chr16:72634299-72634300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143176211	chr16:72634317-72634318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537305197	chr16:72634332-72634333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529406434	chr16:72634343-72634344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531170175	chr16:72634349-72634350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11639633	chr16:72634350-72634351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs568014534	chr16:72634351-72634352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569223389	chr16:72634402-72634403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146677465	chr16:72634408-72634409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553616979	chr16:72634434-72634435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140232450	chr16:72634435-72634436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72626800-72638600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr16:72632600-72636000	Weak transcription	GM12878-XiMat	blood
3	chr16:72636000-72638400	Enhancers	GM12878-XiMat	blood
4	chr16:72638000-72639000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr16:72638400-72639200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr16:72638400-72643600	Weak transcription	GM12878-XiMat	blood
7	chr16:72638600-72639200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:72638600-72639200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:72638600-72639400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr16:72638800-72639000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:72639000-72643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr16:72639000-72643400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr16:72639200-72643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr16:72639200-72643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr16:72639400-72643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:72639600-72640000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:72642600-72643000	Enhancers	Fetal Muscle Leg	muscle
18	chr16:72643000-72643200	Enhancers	NHDF-Ad	bronchial
19	chr16:72643000-72644400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr16:72643000-72644800	Weak transcription	Fetal Muscle Leg	muscle
21	chr16:72643200-72644400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr16:72643400-72643600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr16:72643400-72644400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr16:72643400-72644400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:72643400-72644400	Enhancers	Primary B cells from cord blood	blood
26	chr16:72643400-72644600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr16:72643400-72646000	Weak transcription	NHDF-Ad	bronchial
28	chr16:72643600-72644000	Enhancers	GM12878-XiMat	blood
29	chr16:72643600-72644400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr16:72643600-72644400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr16:72643600-72644600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr16:72643600-72660600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr16:72644000-72644400	Flanking Active TSS	GM12878-XiMat	blood
34	chr16:72644000-72644600	Enhancers	Primary B cells from peripheral blood	blood
35	chr16:72644200-72644600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:72644200-72644600	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr16:72644400-72644600	Enhancers	GM12878-XiMat	blood
38	chr16:72644400-72649200	Weak transcription	Primary B cells from cord blood	blood
39	chr16:72644400-72652000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr16:72644400-72660400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr16:72644600-72649400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:72644600-72649400	Weak transcription	GM12878-XiMat	blood
43	chr16:72644800-72645400	Enhancers	Fetal Muscle Leg	muscle
44	chr16:72644800-72649400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:72645200-72645400	Enhancers	Fetal Stomach	stomach
46	chr16:72645200-72645600	Enhancers	Fetal Muscle Trunk	muscle
47	chr16:72645400-72646000	Weak transcription	Fetal Muscle Leg	muscle
48	chr16:72645400-72646200	Weak transcription	Fetal Stomach	stomach
49	chr16:72645800-72646200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr16:72645800-72646400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links