Variant report

Variant	nsv542987
Chromosome Location	chr16:80317627-80471469
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:48)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:
2	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
3	chr16:80453914..80455778-chr16:80465927..80468447,2	MCF-7	breast:
4	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
5	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
6	chr16:79635942..79636526-chr16:80403665..80404343,2	K562	blood:
7	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
8	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
9	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
10	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
11	chr16:80467020..80469434-chr16:80558552..80560756,2	K562	blood:
12	chr16:80346494..80349912-chr16:80349943..80351879,3	MCF-7	breast:
13	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
14	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
15	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
16	chr16:80427816..80429853-chr16:80431372..80434203,2	K562	blood:
17	chr16:79295136..79296034-chr16:80352578..80353724,3	MCF-7	breast:
18	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
19	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
20	chr16:80374923..80375802-chr16:80560060..80560618,2	MCF-7	breast:
21	chr16:80355317..80357062-chr16:80358913..80360830,2	K562	blood:
22	chr16:80352039..80354003-chr16:80355342..80358091,2	MCF-7	breast:
23	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
24	chr16:80313815..80316621-chr16:80321015..80323022,2	MCF-7	breast:
25	chr16:80342529..80346218-chr16:80346467..80349314,3	MCF-7	breast:
26	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
27	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
28	chr16:80387925..80389611-chr16:80393256..80396237,2	MCF-7	breast:
29	chr16:80469396..80471000-chr16:80474458..80476737,2	MCF-7	breast:
30	chr16:80422507..80424954-chr16:80425811..80427475,2	K562	blood:
31	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
32	chr16:80455099..80456969-chr16:80460045..80462962,2	MCF-7	breast:
33	chr16:80464231..80466883-chr16:80470014..80471728,2	K562	blood:
34	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
35	chr16:80373054..80375893-chr16:80376366..80378130,2	K562	blood:
36	chr16:80400278..80401795-chr16:80405835..80408436,2	MCF-7	breast:
37	chr16:80348589..80350243-chr16:80374118..80376486,2	K562	blood:
38	chr16:80116624..80119575-chr16:80356454..80358256,2	MCF-7	breast:
39	chr16:80334401..80335928-chr16:80343154..80345608,2	MCF-7	breast:
40	chr16:80351834..80354338-chr16:80364335..80365848,2	MCF-7	breast:
41	chr16:80351732..80352309-chr20:52188388..52189040,2	MCF-7	breast:
42	chr16:80351169..80352110-chr16:80403270..80403802,2	MCF-7	breast:
43	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
44	chr16:80377234..80379448-chr16:80383112..80384932,2	MCF-7	breast:
45	chr16:80312419..80315004-chr16:80317152..80320675,4	MCF-7	breast:
46	chr16:80456261..80457828-chr16:80462045..80464017,2	K562	blood:
47	chr16:80443585..80445085-chr3:63915478..63917736,2	MCF-7	breast:
48	chr16:80367065..80371561-chr16:80373594..80377229,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLRB2-5	chr16:80331366-80331485	ucscGeneNc_uc002fgs_2
2	lnc-DYNLRB2-5	chr16:80331572-80331684	ucscGeneNc_uc002fgs_2
3	lnc-DYNLRB2-5	chr16:80330180-80330542	ucscGeneNc_uc002fgs_2

No data

Extended variants
information (count: 7457 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:7457 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77184971	chr16:80317663-80317664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571875489	chr16:80317664-80317665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527502664	chr16:80317691-80317692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531671974	chr16:80317727-80317728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138433494	chr16:80317730-80317731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34733203	chr16:80317762-80317763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559867527	chr16:80317773-80317774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571247851	chr16:80317784-80317785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547520027	chr16:80317856-80317857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553753965	chr16:80317869-80317870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550239910	chr16:80317881-80317882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117841365	chr16:80317910-80317911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149411044	chr16:80317914-80317915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144796793	chr16:80317916-80317917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571695199	chr16:80317928-80317929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60783349	chr16:80317942-80317943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs117165307	chr16:80317972-80317973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576526273	chr16:80317976-80317977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536536922	chr16:80317990-80317991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148551585	chr16:80318030-80318031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144109594	chr16:80318042-80318043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73579679	chr16:80318045-80318046	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559704627	chr16:80318047-80318048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572201494	chr16:80318083-80318084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147314073	chr16:80318088-80318089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561055398	chr16:80318093-80318094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78709940	chr16:80318098-80318099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569648089	chr16:80318101-80318102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140760776	chr16:80318122-80318123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564803210	chr16:80318132-80318133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532251921	chr16:80318158-80318159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144609611	chr16:80318194-80318195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181235207	chr16:80318209-80318210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536537503	chr16:80318218-80318219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151283490	chr16:80318219-80318220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569889839	chr16:80318220-80318221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537220738	chr16:80318237-80318238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185633804	chr16:80318264-80318265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375254059	chr16:80318270-80318271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577226567	chr16:80318277-80318278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535119318	chr16:80318330-80318331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13332766	chr16:80318357-80318358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574817728	chr16:80318406-80318407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558701804	chr16:80318408-80318409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12930110	chr16:80318447-80318448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139295740	chr16:80318448-80318449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561195407	chr16:80318458-80318459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs199971669	chr16:80318498-80318499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534398583	chr16:80318508-80318509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543611257	chr16:80318549-80318550	Enhancers	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80309000-80318200	Weak transcription	HSMM	muscle
2	chr16:80314400-80318200	Weak transcription	HSMMtube	muscle
3	chr16:80316200-80317800	Weak transcription	Osteobl	bone
4	chr16:80316800-80319000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:80316800-80319800	Enhancers	NHDF-Ad	bronchial
6	chr16:80316800-80320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:80317000-80320000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr16:80317600-80319400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:80317600-80319600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:80317600-80319800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:80317800-80318200	Weak transcription	NHLF	lung
12	chr16:80317800-80319600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:80317800-80320000	Enhancers	Osteobl	bone
14	chr16:80318200-80318400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr16:80318200-80319000	Enhancers	HSMMtube	muscle
16	chr16:80318200-80319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:80318200-80319800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:80318200-80320000	Enhancers	HSMM	muscle
19	chr16:80318200-80320000	Enhancers	NH-A	brain
20	chr16:80318400-80319200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:80318400-80319200	Enhancers	HMEC	breast
22	chr16:80318400-80319600	Enhancers	NHLF	lung
23	chr16:80318400-80319800	Enhancers	NHEK	skin
24	chr16:80319000-80319200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr16:80319000-80321800	Weak transcription	HSMMtube	muscle
26	chr16:80319600-80321800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:80319800-80322000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:80320000-80321800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr16:80320000-80321800	Weak transcription	HSMM	muscle
30	chr16:80320000-80322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:80320400-80320800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr16:80320800-80321200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr16:80321800-80322600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:80321800-80323000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr16:80321800-80323600	Enhancers	HSMM	muscle
36	chr16:80321800-80323600	Enhancers	HSMMtube	muscle
37	chr16:80322000-80322200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:80322000-80322800	Enhancers	Ovary	ovary
39	chr16:80322400-80322800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr16:80322600-80324200	Enhancers	Fetal Muscle Leg	muscle
41	chr16:80322800-80323800	Weak transcription	Ovary	ovary
42	chr16:80323400-80324200	Enhancers	Fetal Intestine Small	intestine
43	chr16:80323600-80324000	Weak transcription	HSMM	muscle
44	chr16:80324000-80324200	Enhancers	Ovary	ovary
45	chr16:80328200-80329200	Enhancers	HUVEC	blood vessel
46	chr16:80329200-80330400	Weak transcription	HUVEC	blood vessel
47	chr16:80329600-80329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:80329600-80329800	ZNF genes & repeats	HSMM	muscle
49	chr16:80329800-80332200	Weak transcription	HSMM	muscle
50	chr16:80330400-80330600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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