Variant report

Variant	nsv573301
Chromosome Location	chr16:80800656-80818676
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80795037..80797883-chr16:80807258..80809705,2	MCF-7	breast:
2	chr16:80795153..80796921-chr16:80801305..80802952,2	MCF-7	breast:
3	chr16:80809291..80811612-chr16:80817355..80819809,2	MCF-7	breast:
4	chr16:80814189..80816119-chr16:80824110..80826754,2	K562	blood:
5	chr16:80753856..80755452-chr16:80810403..80813281,2	MCF-7	breast:
6	chr16:80801378..80804737-chr16:80832241..80835034,3	MCF-7	breast:
7	chr16:80812055..80815396-chr16:80837025..80838979,4	MCF-7	breast:
8	chr16:80812160..80813982-chr16:80814490..80816336,2	MCF-7	breast:
9	chr16:80793147..80796035-chr16:80798659..80801085,2	MCF-7	breast:
10	chr16:80808235..80810529-chr16:80811249..80813336,2	MCF-7	breast:
11	chr16:80572758..80574587-chr16:80801032..80802655,2	MCF-7	breast:
12	chr16:80807863..80810063-chr16:80836867..80839644,2	MCF-7	breast:
13	chr16:80808235..80810529-chr16:80811249..80813336,2	MCF-7	breast:
14	chr16:80812160..80813982-chr16:80814490..80816336,2	MCF-7	breast:
15	chr16:80809291..80811612-chr16:80817355..80819809,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166446	chromatin interactions

Extended variants
information (count: 977 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16953976	chr16:80800656-80800657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187744514	chr16:80800658-80800659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192107871	chr16:80800665-80800666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116304578	chr16:80800692-80800693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115493170	chr16:80800721-80800722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528085947	chr16:80800724-80800725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546255500	chr16:80800725-80800726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567835982	chr16:80800736-80800737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182741940	chr16:80800739-80800740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553112825	chr16:80800765-80800766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556861826	chr16:80800784-80800785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569074366	chr16:80800789-80800790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539347441	chr16:80800794-80800795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558032897	chr16:80800796-80800797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148844635	chr16:80800828-80800829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374238262	chr16:80800847-80800848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562791399	chr16:80800850-80800851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143780885	chr16:80800854-80800855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375851274	chr16:80800867-80800868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188315478	chr16:80800877-80800878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370721667	chr16:80800894-80800895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374430371	chr16:80800913-80800914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192596670	chr16:80800924-80800925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116024909	chr16:80800944-80800945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368350164	chr16:80800951-80800952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148137038	chr16:80800971-80800972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546140306	chr16:80800978-80800979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374513925	chr16:80801008-80801009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564456345	chr16:80801026-80801027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143108107	chr16:80801039-80801040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184800269	chr16:80801051-80801052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567751495	chr16:80801078-80801079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374563950	chr16:80801088-80801089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547091909	chr16:80801097-80801098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs17755333	chr16:80801142-80801143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572256398	chr16:80801184-80801185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12447634	chr16:80801190-80801191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549555491	chr16:80801191-80801192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371480957	chr16:80801193-80801194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558047727	chr16:80801200-80801201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189300751	chr16:80801244-80801245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145163149	chr16:80801249-80801250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192698830	chr16:80801250-80801251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138998461	chr16:80801252-80801253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574825870	chr16:80801287-80801288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538192968	chr16:80801302-80801303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558351657	chr16:80801357-80801358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185107933	chr16:80801397-80801398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557437942	chr16:80801432-80801433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141981063	chr16:80801433-80801434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80794200-80803400	Weak transcription	HUVEC	blood vessel
2	chr16:80796800-80802200	Weak transcription	Hela-S3	cervix
3	chr16:80801400-80803000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr16:80802000-80806200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr16:80802200-80803200	Strong transcription	Hela-S3	cervix
6	chr16:80803000-80803600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr16:80803000-80803600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr16:80803000-80803600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr16:80803000-80803600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr16:80803000-80803800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr16:80803000-80803800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr16:80803000-80804000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr16:80803000-80804000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr16:80803200-80803400	ZNF genes & repeats	Hela-S3	cervix
15	chr16:80803200-80803600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr16:80803200-80803800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr16:80803200-80804000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:80803200-80804200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr16:80803400-80803800	Enhancers	HUVEC	blood vessel
20	chr16:80803400-80805600	Weak transcription	Hela-S3	cervix
21	chr16:80803600-80805000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr16:80803600-80807800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:80803800-80812200	Weak transcription	HUVEC	blood vessel
24	chr16:80805000-80805200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
25	chr16:80805600-80807800	Strong transcription	Hela-S3	cervix
26	chr16:80807800-80812000	Weak transcription	Hela-S3	cervix
27	chr16:80812000-80813400	Enhancers	Hela-S3	cervix
28	chr16:80812200-80812600	Enhancers	HUVEC	blood vessel
29	chr16:80812400-80813400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr16:80812600-80813000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr16:80812600-80813400	Flanking Active TSS	HUVEC	blood vessel
32	chr16:80813400-80814200	Enhancers	HUVEC	blood vessel
33	chr16:80813400-80817000	Weak transcription	Hela-S3	cervix
34	chr16:80813400-80818400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr16:80814200-80821000	Weak transcription	HUVEC	blood vessel
36	chr16:80817000-80817200	ZNF genes & repeats	Hela-S3	cervix
37	chr16:80818600-80819000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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