Variant report

Variant	nsv1055982
Chromosome Location	chr16:80151604-80202923
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:10)
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	chr16:80192243..80194874-chr16:80195006..80196589,2	K562	blood:
2	chr12:14926673..14928869-chr16:80184118..80186587,2	MCF-7	breast:
3	chr16:80164328..80166827-chr16:80167258..80169658,2	MCF-7	breast:
4	chr16:80149028..80151901-chr16:80155425..80157730,2	K562	blood:
5	chr16:80110668..80112262-chr16:80192001..80193923,2	K562	blood:
6	chr16:80201693..80203729-chr16:80204153..80206753,2	MCF-7	breast:
7	chr16:80194118..80196698-chr16:80201674..80203282,2	MCF-7	breast:
8	chr16:80197749..80200244-chr16:80208676..80210441,2	K562	blood:
9	chr16:80146986..80149039-chr16:80150822..80152607,2	MCF-7	breast:
10	chr16:80187241..80188033-chr9:124138887..124139739,2	MCF-7	breast:
11	chr16:80194118..80196698-chr16:80201674..80203282,2	MCF-7	breast:
12	chr16:80192243..80194874-chr16:80195006..80196589,2	K562	blood:
13	chr16:80164328..80166827-chr16:80167258..80169658,2	MCF-7	breast:
14	chr16:80149028..80151901-chr16:80155425..80157730,2	K562	blood:
15	chr16:80192745..80194874-chr16:80195006..80196730,2	K562	blood:
16	chr16:80192745..80194874-chr16:80195006..80196730,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-6	chr16:80193234-80193352	ENSG00000259867.1
2	lnc-CDYL2-6	chr16:80193234-80193352	ENSG00000259867.1
3	lnc-DYNLRB2-3	chr16:80191528-80191552	ENSG00000260706.1
4	lnc-CDYL2-6	chr16:80191511-80191579	ENSG00000259867.1
5	lnc-DYNLRB2-3	chr16:80195776-80195993	XLOC_011799
6	lnc-DYNLRB2-3	chr16:80190122-80190272	ENSG00000260706.1
7	lnc-CDYL2-6	chr16:80194129-80194203	ENSG00000259867.1
8	lnc-CDYL2-6	chr16:80188950-80189904	ENSG00000259867.1
9	lnc-DYNLRB2-3	chr16:80201301-80201474	ENSG00000260706.1
10	lnc-CDYL2-6	chr16:80189146-80189904	ENSG00000259867.1

No data

Variant related genes	Relation type
ENSG00000246705	chromatin interactions
EGR2	miRNA target sites

Extended variants
information (count: 2541 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2541 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560347173	chr16:80151618-80151619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs527866256	chr16:80151650-80151651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13333828	chr16:80151664-80151665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10514481	chr16:80151666-80151667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531990878	chr16:80151668-80151669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549921721	chr16:80151675-80151676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571639361	chr16:80151677-80151678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74041339	chr16:80151726-80151727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146546433	chr16:80151753-80151754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566719939	chr16:80151774-80151775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2009458	chr16:80151779-80151780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs2009457	chr16:80151800-80151801	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371496740	chr16:80151802-80151803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367880041	chr16:80151816-80151817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569377334	chr16:80151823-80151824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187061023	chr16:80151837-80151838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141302332	chr16:80151848-80151849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372119931	chr16:80151858-80151859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555916779	chr16:80151864-80151865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191477599	chr16:80151879-80151880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375369055	chr16:80151880-80151881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183629409	chr16:80151885-80151886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs16952436	chr16:80151890-80151891	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs145035097	chr16:80151906-80151907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199980911	chr16:80151914-80151915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10514482	chr16:80151927-80151928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148039302	chr16:80151969-80151970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189470796	chr16:80152006-80152007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2017985	chr16:80152019-80152020	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs539119471	chr16:80152037-80152038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16952439	chr16:80152050-80152051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558818141	chr16:80152055-80152056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547766656	chr16:80152080-80152081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs150136376	chr16:80152101-80152102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138669444	chr16:80152103-80152104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193301866	chr16:80152108-80152109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142888078	chr16:80152146-80152147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs16952440	chr16:80152153-80152154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs147353481	chr16:80152154-80152155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185526124	chr16:80152204-80152205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190387331	chr16:80152236-80152237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538248890	chr16:80152257-80152258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553311112	chr16:80152260-80152261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2017957	chr16:80152280-80152281	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10400987	chr16:80152288-80152289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554892248	chr16:80152289-80152290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576570858	chr16:80152293-80152294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60393256	chr16:80152312-80152313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565582683	chr16:80152318-80152319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532815030	chr16:80152327-80152328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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 lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Adrenocortical carcinoma	18281524	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Hypoplastic left heart syndrome	22349727	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80138000-80156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:80148400-80156000	Weak transcription	Ovary	ovary
3	chr16:80148600-80155600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80151000-80151800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:80151200-80152200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:80151400-80151800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:80151400-80151800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr16:80151400-80151800	Enhancers	Adipose Nuclei	Adipose
9	chr16:80151400-80152000	Enhancers	Fetal Lung	lung
10	chr16:80151400-80152200	Enhancers	NHEK	skin
11	chr16:80151800-80153800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:80151800-80154600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:80151800-80154600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:80151800-80159600	Weak transcription	Adipose Nuclei	Adipose
15	chr16:80152000-80155000	Weak transcription	Fetal Lung	lung
16	chr16:80152200-80154400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:80152200-80154400	Weak transcription	NHEK	skin
18	chr16:80153800-80155400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr16:80154400-80154800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:80154400-80155000	Enhancers	NHEK	skin
21	chr16:80154400-80155600	Enhancers	HMEC	breast
22	chr16:80154400-80156800	Enhancers	Brain Germinal Matrix	brain
23	chr16:80154600-80154800	Enhancers	Psoas Muscle	Psoas
24	chr16:80154600-80155400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:80154600-80155400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:80154600-80155400	Enhancers	Esophagus	oesophagus
27	chr16:80154600-80155400	Enhancers	Fetal Muscle Leg	muscle
28	chr16:80154800-80155200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:80154800-80156000	Weak transcription	Psoas Muscle	Psoas
30	chr16:80154800-80156800	Enhancers	Fetal Stomach	stomach
31	chr16:80155000-80155200	Enhancers	Placenta Amnion	Placenta Amnion
32	chr16:80155000-80155400	Flanking Active TSS	NHEK	skin
33	chr16:80155000-80156800	Enhancers	Fetal Lung	lung
34	chr16:80155200-80155400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:80155200-80156000	Enhancers	Brain Hippocampus Middle	brain
36	chr16:80155200-80156600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:80155200-80156600	Enhancers	NHDF-Ad	bronchial
38	chr16:80155200-80157400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr16:80155400-80155800	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:80155400-80156600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr16:80155600-80155800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:80155800-80156000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:80155800-80156000	Enhancers	Fetal Intestine Large	intestine
44	chr16:80155800-80156400	Enhancers	Stomach Smooth Muscle	stomach
45	chr16:80155800-80156600	Enhancers	Fetal Muscle Leg	muscle
46	chr16:80156000-80156200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:80156000-80156400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:80156000-80156400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr16:80156000-80156400	Enhancers	Psoas Muscle	Psoas
50	chr16:80156000-80157200	Enhancers	Ovary	ovary

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