Variant report

Variant	nsv984357
Chromosome Location	chr16:76269223-76269835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr16:76269096-76269254	MCF-7	breast:	n/a	n/a
2	MYC	chr16:76268999-76269228	MCF-7	breast:	n/a	n/a
3	POLR2A	chr16:76268978-76269329	MCF-7	breast:	n/a	n/a
4	POLR2A	chr16:76269043-76269512	MCF-7	breast:	n/a	n/a
5	ZBTB33	chr16:76269331-76269557	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76269297-76269347	PrEC	prostate:	n/a
2	chr16:76269409-76269459	AG10803	skin:	n/a
3	chr16:76269192-76269242	GM12892	blood:	n/a
4	chr16:76269184-76269234	RPTEC	kidney:	n/a
5	chr16:76269409-76269459	NHBE	bronchial:	n/a
6	chr16:76269297-76269347	HCM	heart:	n/a
7	chr16:76269409-76269459	HEK293	kidney:	embryo
8	chr16:76269409-76269459	HL-60	blood:	n/a
9	chr16:76269184-76269234	AoSMC	blood vessel:	n/a
10	chr16:76269297-76269347	HAEpiC	amniotic membrane:	n/a
11	chr16:76269192-76269242	CMK	blood:	n/a
12	chr16:76269184-76269234	AG09309	skin:	n/a
13	chr16:76269184-76269234	BE2_C	brain:	n/a
14	chr16:76269192-76269242	GM12878	blood:	n/a
15	chr16:76269192-76269242	Jurkat	blood:	n/a
16	chr16:76269409-76269459	AG09319	gingival:	n/a
17	chr16:76269192-76269242	T-47D	breast:	n/a
18	chr16:76269297-76269347	NT2-D1	testis:	n/a
19	chr16:76269297-76269347	AG04449	skin:	fetal
20	chr16:76269184-76269234	SK-N-MC	brain:	n/a
21	chr16:76269409-76269459	CMK	blood:	n/a
22	chr16:76269409-76269459	HCM	heart:	n/a
23	chr16:76269192-76269242	HCPEpiC	choroid plexus:	n/a
24	chr16:76269409-76269459	Caco-2	colon:	n/a
25	chr16:76269184-76269234	HUVEC	blood vessel:	n/a
26	chr16:76269184-76269234	HL-60	blood:	n/a
27	chr16:76269192-76269242	HEEpiC	esophagus:	n/a
28	chr16:76269409-76269459	AoSMC	blood vessel:	n/a
29	chr16:76269297-76269347	LNCaP	prostate:	n/a
30	chr16:76269297-76269347	K562	blood:	n/a
31	chr16:76269184-76269234	AG04450	lung:	fetal
32	chr16:76269192-76269242	AG09309	skin:	n/a
33	chr16:76269409-76269459	HUVEC	blood vessel:	n/a
34	chr16:76269192-76269242	AoSMC	blood vessel:	n/a
35	chr16:76269184-76269234	MCF10A-Er-Src	breast:	n/a
36	chr16:76269192-76269242	HNPCEpiC	eye:	n/a
37	chr16:76269297-76269347	SK-N-SH_RA	brain:	n/a
38	chr16:76269409-76269459	IMR90	lung:	fetal
39	chr16:76269184-76269234	A549	lung:	n/a
40	chr16:76269297-76269347	NHBE	bronchial:	n/a
41	chr16:76269297-76269347	H1-hESC	embryonic stem cell:	embryo
42	chr16:76269192-76269242	BE2_C	brain:	n/a
43	chr16:76269409-76269459	AG04450	lung:	fetal
44	chr16:76269184-76269234	HAEpiC	amniotic membrane:	n/a
45	chr16:76269297-76269347	HL-60	blood:	n/a
46	chr16:76269184-76269234	GM12892	blood:	n/a
47	chr16:76269184-76269234	SKMC	muscle:	n/a
48	chr16:76269184-76269234	NH-A	brain:	n/a
49	chr16:76269297-76269347	AoSMC	blood vessel:	n/a
50	chr16:76269192-76269242	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:76267035..76268706-chr16:76269783..76271539,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-3	chr16:76268585-76269326	NONHSAT143776
2	lnc-AC025287.1-3	chr16:76268953-76269521	NONHSAT143777

No data

Variant related genes	Relation type
RPL18P13	TF binding region
RPL18P13	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562476276	chr16:76269265-76269266	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs575968856	chr16:76269274-76269275	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs145011977	chr16:76269298-76269299	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs376852990	chr16:76269301-76269302	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs16944028	chr16:76269313-76269314	ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116634942	chr16:76269337-76269338	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs114181691	chr16:76269359-76269360	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
8	rs368126957	chr16:76269361-76269362	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs186091639	chr16:76269375-76269376	ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs113551198	chr16:76269431-76269432	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs533396347	chr16:76269469-76269470	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs189759170	chr16:76269473-76269474	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs139004801	chr16:76269477-76269478	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535963145	chr16:76269482-76269483	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs141595431	chr16:76269501-76269502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs565741556	chr16:76269528-76269529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs181433561	chr16:76269538-76269539	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150453036	chr16:76269561-76269562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576949324	chr16:76269573-76269574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539281329	chr16:76269604-76269605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138297227	chr16:76269630-76269631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576020612	chr16:76269653-76269654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114544338	chr16:76269656-76269657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79153261	chr16:76269736-76269737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376377331	chr16:76269748-76269749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541731249	chr16:76269754-76269755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564655664	chr16:76269767-76269768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149614738	chr16:76269776-76269777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1544950	chr16:76269793-76269794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs4402597	chr16:76269804-76269805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529303708	chr16:76269809-76269810	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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76269000-76269400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:76269400-76272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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