Variant report

Variant	nsv984358
Chromosome Location	chr16:82152744-82162189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:82155008-82155157	K562	blood:	n/a	n/a
2	ATF1	chr16:82159991-82160001	K562	blood:	n/a	n/a
3	ATF1	chr16:82153837-82154037	K562	blood:	n/a	n/a
4	CTCF	chr16:82160178-82160210	GM20000	blood:	n/a	n/a
5	CTCF	chr16:82159907-82159976	GM20000	blood:	n/a	n/a
6	GATA3	chr16:82158272-82158644	T-47D	breast:	n/a	n/a
7	GATA3	chr16:82158222-82158646	T-47D	breast:	n/a	n/a
8	MYC	chr16:82161117-82161254	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr16:82161125-82161219	ProgFib	skin:	n/a	n/a
10	POLR2A	chr16:82160134-82160191	Gliobla	brain:	n/a	n/a
11	POLR2A	chr16:82154874-82154967	MCF10A-Er-Src	breast:	n/a	n/a
12	SETDB1	chr16:82161222-82161649	U2OS	brain:	n/a	n/a
13	ZNF384	chr16:82157120-82157129	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:82161215-82161265	GM12892	blood:	n/a
2	chr16:82161215-82161265	ECC-1	luminal epithelium:	n/a
3	chr16:82161215-82161265	H1-hESC	embryonic stem cell:	embryo
4	chr16:82161215-82161265	HRPEpiC	eye:	n/a
5	chr16:82161215-82161265	HRCEpiC	kidney:	n/a
6	chr16:82161215-82161265	ovcar-3	ovarian:	n/a
7	chr16:82161215-82161265	GM19239	blood:	n/a
8	chr16:82161215-82161265	MCF-7	breast:	n/a
9	chr16:82161215-82161265	HIPEpiC	eye:	n/a
10	chr16:82161215-82161265	GM06990	blood:	n/a
11	chr16:82161215-82161265	HEEpiC	esophagus:	n/a
12	chr16:82161215-82161265	CMK	blood:	n/a
13	chr16:82161215-82161265	NT2-D1	testis:	n/a
14	chr16:82161215-82161265	LNCaP	prostate:	n/a
15	chr16:82161215-82161265	HUVEC	blood vessel:	n/a
16	chr16:82161215-82161265	HL-60	blood:	n/a
17	chr16:82161215-82161265	Caco-2	colon:	n/a
18	chr16:82161215-82161265	Hela-S3	cervix:	n/a
19	chr16:82161215-82161265	HAEpiC	amniotic membrane:	n/a
20	chr16:82161215-82161265	PANC-1	pancreas:	n/a
21	chr16:82161215-82161265	SK-N-MC	brain:	n/a
22	chr16:82161215-82161265	AoSMC	blood vessel:	n/a
23	chr16:82161215-82161265	HMEC	breast:	n/a
24	chr16:82161215-82161265	HCF	heart:	n/a
25	chr16:82161215-82161265	PrEC	prostate:	n/a
26	chr16:82161215-82161265	T-47D	breast:	n/a
27	chr16:82161215-82161265	HCPEpiC	choroid plexus:	n/a
28	chr16:82161215-82161265	AG04450	lung:	fetal
29	chr16:82161215-82161265	NH-A	brain:	n/a
30	chr16:82161215-82161265	HPAEpiC	pulmonary alveolar:	n/a
31	chr16:82161215-82161265	HCM	heart:	n/a
32	chr16:82161215-82161265	AG09309	skin:	n/a
33	chr16:82161215-82161265	HCT-116	colon:	n/a
34	chr16:82161215-82161265	Hepatocyte	liver:	n/a
35	chr16:82161215-82161265	K562	blood:	n/a
36	chr16:82161215-82161265	Jurkat	blood:	n/a
37	chr16:82161215-82161265	HNPCEpiC	eye:	n/a
38	chr16:82161215-82161265	BE2_C	brain:	n/a
39	chr16:82161215-82161265	HepG2	liver:	n/a
40	chr16:82161215-82161265	HRE	kidney:	n/a
41	chr16:82161215-82161265	NB4	blood:	n/a
42	chr16:82161215-82161265	SKMC	muscle:	n/a
43	chr16:82161215-82161265	AG04449	skin:	fetal
44	chr16:82161215-82161265	AG10803	skin:	n/a
45	chr16:82161215-82161265	IMR90	lung:	fetal
46	chr16:82161215-82161265	BJ	skin:	n/a
47	chr16:82161215-82161265	ProgFib	skin:	n/a
48	chr16:82161215-82161265	PFSK-1	brain:	n/a
49	chr16:82161215-82161265	HEK293	kidney:	embryo
50	chr16:82161215-82161265	RPTEC	kidney:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82153037..82154968-chr16:82160886..82163230,2	MCF-7	breast:
2	chr16:82153037..82154968-chr16:82160886..82163230,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260161	TF binding region
ENSG00000260161	CpG island

Extended variants
information (count: 513 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550149620	chr16:82152744-82152745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187713453	chr16:82152763-82152764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532814540	chr16:82152820-82152821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4243230	chr16:82152858-82152859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs116634917	chr16:82152863-82152864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114299115	chr16:82152890-82152891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111846945	chr16:82152926-82152927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534166359	chr16:82152944-82152945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547008575	chr16:82152958-82152959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138490708	chr16:82152961-82152962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142922093	chr16:82152972-82152973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557351460	chr16:82152974-82152975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201798260	chr16:82152981-82152982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553807790	chr16:82153004-82153005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192488817	chr16:82153005-82153006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573897637	chr16:82153006-82153007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536118850	chr16:82153033-82153034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558216786	chr16:82153042-82153043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572979906	chr16:82153077-82153078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61404485	chr16:82153120-82153121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs146134125	chr16:82153152-82153153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573557092	chr16:82153156-82153157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543805607	chr16:82153162-82153163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556329247	chr16:82153166-82153167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141492490	chr16:82153174-82153175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115668112	chr16:82153180-82153181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7404146	chr16:82153244-82153245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73604954	chr16:82153271-82153272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528729059	chr16:82153274-82153275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547164221	chr16:82153322-82153323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568670478	chr16:82153337-82153338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185099543	chr16:82153364-82153365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564624568	chr16:82153369-82153370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551017398	chr16:82153392-82153393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150821929	chr16:82153398-82153399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186701596	chr16:82153407-82153408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192780783	chr16:82153431-82153432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371994969	chr16:82153478-82153479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139232093	chr16:82153481-82153482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533754828	chr16:82153498-82153499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555489389	chr16:82153526-82153527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34638657	chr16:82153538-82153539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs529600673	chr16:82153558-82153559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556026339	chr16:82153573-82153574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577248140	chr16:82153579-82153580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184641832	chr16:82153603-82153604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370691537	chr16:82153611-82153612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560031081	chr16:82153623-82153624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540069779	chr16:82153625-82153626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562238851	chr16:82153633-82153634	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82151400-82154200	Weak transcription	Fetal Brain Male	brain
2	chr16:82154200-82154800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
4	chr16:82159800-82161000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr16:82160000-82160200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr16:82160000-82161000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr16:82160200-82160600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr16:82160200-82160800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr16:82160200-82160800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr16:82160200-82160800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr16:82160200-82161000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr16:82160200-82172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr16:82160400-82160800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr16:82160600-82160800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:82160600-82161000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr16:82160800-82170600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr16:82160800-82171600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:82160800-82171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:82160800-82172200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:82160800-82172200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr16:82161000-82161200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr16:82161000-82172000	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr16:82161000-82172000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr16:82161200-82170200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr16:82161800-82162000	Enhancers	Primary hematopoietic stem cells	blood

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