Variant report

Variant	nsv1056987
Chromosome Location	chr16:72620573-72658730
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:16)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:
2	chr16:72655553..72658383-chr16:72661111..72662657,2	K562	blood:
3	chr16:72621877..72623975-chr16:72629734..72632332,2	K562	blood:
4	chr16:72625289..72626865-chr16:72628654..72630919,2	MCF-7	breast:
5	chr16:72653301..72655444-chr16:72697417..72699415,2	MCF-7	breast:
6	chr16:72654611..72656159-chr16:72657449..72659706,2	MCF-7	breast:
7	chr16:72651292..72654183-chr16:72655159..72657587,2	MCF-7	breast:
8	chr16:72648333..72650478-chr16:72650766..72653685,2	MCF-7	breast:
9	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
10	chr16:72621877..72623975-chr16:72629734..72632332,2	K562	blood:
11	chr16:72651292..72654183-chr16:72655159..72657587,2	MCF-7	breast:
12	chr16:72625289..72626865-chr16:72628654..72630919,2	MCF-7	breast:
13	chr16:72654611..72656159-chr16:72657449..72659706,2	MCF-7	breast:
14	chr16:72622601..72625359-chr16:72638031..72640326,2	MCF-7	breast:
15	chr16:72647985..72650353-chr16:72650392..72652238,2	K562	blood:
16	chr16:72622601..72625359-chr16:72638031..72640326,2	MCF-7	breast:

(count:8 , 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	ENSG00000261008.2
3	lnc-PMFBP1-4	chr16:72644281-72644638	NONHSAT143568
4	lnc-PMFBP1-4	chr16:72651082-72651133	ENSG00000261008.2
5	lnc-PMFBP1-4	chr16:72651082-72651133	NONHSAT143568
6	lnc-PMFBP1-4	chr16:72651238-72651452	ENSG00000261008.2
7	lnc-DHX38-22	chr16:72656278-72656454	NONHSAT143594
8	lnc-ZFHX3-4	chr16:72655197-72655587	NONHSAT143593

No data

Variant related genes	Relation type
ENSG00000261008	chromatin interactions
ENSG00000259768	chromatin interactions
SFRS13A	miRNA target sites
CEPT1	miRNA target sites

Extended variants
information (count: 1533 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1533 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540386588	chr16:72621222-72621223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77343309	chr16:72621247-72621248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186703124	chr16:72621252-72621253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532784900	chr16:72621264-72621265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544553923	chr16:72621276-72621277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563228835	chr16:72621296-72621297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193299523	chr16:72621313-72621314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143524557	chr16:72621328-72621329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559503276	chr16:72621372-72621373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527780064	chr16:72621378-72621379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185512845	chr16:72621456-72621457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560112671	chr16:72621466-72621467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190272492	chr16:72621478-72621479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547319538	chr16:72621489-72621490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181472346	chr16:72621491-72621492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397939607	chr16:72621516-72621517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372161573	chr16:72621517-72621518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538079394	chr16:72621535-72621536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184059579	chr16:72621545-72621546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568367671	chr16:72621591-72621592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529880981	chr16:72621592-72621593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs16971050	chr16:72621614-72621615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs372965619	chr16:72621615-72621616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146267476	chr16:72621643-72621644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67878455	chr16:72621669-72621670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535679674	chr16:72621670-72621671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368446999	chr16:72621675-72621676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71386965	chr16:72621707-72621708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569703922	chr16:72621713-72621714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71386966	chr16:72621718-72621719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71386967	chr16:72621721-72621722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28703579	chr16:72621782-72621783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571747871	chr16:72621786-72621787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545490509	chr16:72621808-72621809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557860036	chr16:72621855-72621856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577349036	chr16:72621872-72621873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544804920	chr16:72621880-72621881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372148322	chr16:72621893-72621894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139268417	chr16:72621968-72621969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530429077	chr16:72622049-72622050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7189059	chr16:72622060-72622061	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368439562	chr16:72622109-72622110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552133229	chr16:72622111-72622112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149976096	chr16:72622126-72622127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552375482	chr16:72622136-72622137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570940470	chr16:72622189-72622190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113982900	chr16:72622212-72622213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550919677	chr16:72622264-72622265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549950736	chr16:72622274-72622275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117117209	chr16:72622295-72622296	Enhancers 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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72621200-72624200	Weak transcription	HepG2	liver
2	chr16:72622000-72623600	Enhancers	Brain Germinal Matrix	brain
3	chr16:72622200-72624000	Enhancers	Primary B cells from cord blood	blood
4	chr16:72623000-72627200	Enhancers	Primary B cells from peripheral blood	blood
5	chr16:72623600-72623800	Enhancers	NHDF-Ad	bronchial
6	chr16:72623600-72624000	Weak transcription	Brain Germinal Matrix	brain
7	chr16:72623800-72624400	Enhancers	Brain Hippocampus Middle	brain
8	chr16:72623800-72627600	Weak transcription	NHDF-Ad	bronchial
9	chr16:72624000-72624200	Enhancers	GM12878-XiMat	blood
10	chr16:72624000-72624400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr16:72624000-72624800	Enhancers	Brain Germinal Matrix	brain
12	chr16:72624000-72624800	Enhancers	Fetal Kidney	kidney
13	chr16:72624200-72624400	Flanking Active TSS	GM12878-XiMat	blood
14	chr16:72624200-72624600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:72624200-72625200	Enhancers	HepG2	liver
16	chr16:72624400-72624600	Enhancers	GM12878-XiMat	blood
17	chr16:72624400-72625000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr16:72624400-72627400	Enhancers	Primary B cells from cord blood	blood
19	chr16:72624600-72625200	Flanking Active TSS	GM12878-XiMat	blood
20	chr16:72624800-72626600	Weak transcription	Brain Germinal Matrix	brain
21	chr16:72625000-72629600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr16:72625200-72626400	Enhancers	GM12878-XiMat	blood
23	chr16:72625200-72629400	Weak transcription	HepG2	liver
24	chr16:72626000-72626600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr16:72626400-72626800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr16:72626400-72627200	Flanking Active TSS	GM12878-XiMat	blood
27	chr16:72626600-72627000	Enhancers	Brain Germinal Matrix	brain
28	chr16:72626800-72638600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:72627200-72628000	Enhancers	GM12878-XiMat	blood
30	chr16:72627600-72628000	Enhancers	NHDF-Ad	bronchial
31	chr16:72627800-72628600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:72628000-72630000	Weak transcription	GM12878-XiMat	blood
33	chr16:72630000-72632600	Enhancers	GM12878-XiMat	blood
34	chr16:72632600-72636000	Weak transcription	GM12878-XiMat	blood
35	chr16:72636000-72638400	Enhancers	GM12878-XiMat	blood
36	chr16:72638000-72639000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr16:72638400-72639200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr16:72638400-72643600	Weak transcription	GM12878-XiMat	blood
39	chr16:72638600-72639200	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr16:72638600-72639200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr16:72638600-72639400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr16:72638800-72639000	Enhancers	H1 Cell Line	embryonic stem cell
43	chr16:72639000-72643200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr16:72639000-72643400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr16:72639200-72643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr16:72639200-72643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr16:72639400-72643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:72639600-72640000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr16:72642600-72643000	Enhancers	Fetal Muscle Leg	muscle
50	chr16:72643000-72643200	Enhancers	NHDF-Ad	bronchial

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