Variant report

Variant	nsv572974
Chromosome Location	chr16:74405090-74455293
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:74445450-74445698	HepG2	liver:	n/a	n/a
2	CEBPB	chr16:74441969-74442184	K562	blood:	n/a	n/a
3	CEBPB	chr16:74408185-74408404	Hela-S3	cervix:	n/a	chr16:74408302-74408313
4	CEBPB	chr16:74408191-74408395	K562	blood:	n/a	chr16:74408302-74408313
5	CEBPB	chr16:74408152-74408392	HepG2	liver:	n/a	chr16:74408302-74408313
6	CEBPB	chr16:74408261-74408362	HepG2	liver:	n/a	chr16:74408302-74408313
7	CHD2	chr16:74438089-74438284	K562	blood:	n/a	n/a
8	CTCF	chr16:74429074-74429151	GM19240	blood:	n/a	n/a
9	CTCF	chr16:74445043-74445079	LNCaP	prostate:	n/a	n/a
10	CTCF	chr16:74455279-74455397	Gliobla	brain:	n/a	n/a
11	CTCF	chr16:74406320-74406470	HPAF	blood vessel:	n/a	n/a
12	CTCF	chr16:74454473-74454610	Medullo	brain:	n/a	n/a
13	CTCF	chr16:74439122-74439203	LNCaP	prostate:	n/a	n/a
14	CTCF	chr16:74455158-74455467	A549	lung:	n/a	n/a
15	CTCF	chr16:74447000-74447150	K562	blood:	n/a	n/a
16	CTCF	chr16:74444705-74444737	LNCaP	prostate:	n/a	n/a
17	CTCF	chr16:74447094-74447128	LNCaP	prostate:	n/a	n/a
18	CTCF	chr16:74448704-74448788	Lung_OC	lung:	n/a	n/a
19	CTCF	chr16:74428940-74429090	GM06990	blood:	n/a	n/a
20	CTCF	chr16:74438956-74439023	LNCaP	prostate:	n/a	n/a
21	CTCF	chr16:74429054-74429211	GM12892	blood:	n/a	n/a
22	CTCF	chr16:74406960-74407110	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr16:74428920-74429070	GM12865	blood:	n/a	n/a
24	CTCF	chr16:74428900-74429050	GM12866	blood:	n/a	n/a
25	EBF1	chr16:74440725-74441034	GM12878	blood:	n/a	chr16:74440913-74440922
26	EBF1	chr16:74440773-74441308	GM12878	blood:	n/a	chr16:74440913-74440922
27	ELF1	chr16:74430410-74430702	K562	blood:	n/a	n/a
28	FOS	chr16:74416220-74416420	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
29	FOS	chr16:74438578-74438775	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr16:74416231-74416418	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
31	FOS	chr16:74416225-74416419	MCF10A-Er-Src	breast:	n/a	chr16:74416368-74416377
32	FOSL2	chr16:74425650-74425949	HepG2	liver:	n/a	n/a
33	FOSL2	chr16:74426745-74427124	HepG2	liver:	n/a	chr16:74426968-74426976
34	FOSL2	chr16:74434012-74434255	HepG2	liver:	n/a	n/a
35	FOSL2	chr16:74427546-74427796	HepG2	liver:	n/a	n/a
36	FOSL2	chr16:74428997-74429323	HepG2	liver:	n/a	n/a
37	FOSL2	chr16:74454499-74454739	HepG2	liver:	n/a	chr16:74454673-74454684
38	FOSL2	chr16:74446232-74446653	HepG2	liver:	n/a	n/a
39	FOSL2	chr16:74434922-74435309	HepG2	liver:	n/a	chr16:74435220-74435229 chr16:74435190-74435204
40	FOSL2	chr16:74438069-74438493	HepG2	liver:	n/a	n/a
41	FOSL2	chr16:74441008-74441430	HepG2	liver:	n/a	n/a
42	FOSL2	chr16:74454923-74455415	HepG2	liver:	n/a	n/a
43	FOSL2	chr16:74454198-74454441	HepG2	liver:	n/a	n/a
44	FOSL2	chr16:74440445-74440873	HepG2	liver:	n/a	chr16:74440707-74440716
45	FOSL2	chr16:74453941-74454159	HepG2	liver:	n/a	chr16:74454105-74454116
46	FOSL2	chr16:74453378-74453614	HepG2	liver:	n/a	n/a
47	FOSL2	chr16:74404917-74405248	HepG2	liver:	n/a	n/a
48	FOSL2	chr16:74445449-74445672	HepG2	liver:	n/a	n/a
49	GABPA	chr16:74440791-74441356	HepG2	liver:	n/a	n/a
50	GATA2	chr16:74425447-74425716	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	chr16:74446218-74446268	GM06990	blood:	n/a
2	chr16:74406059-74406109	MCF-7	breast:	n/a
3	chr16:74446218-74446268	ovcar-3	ovarian:	n/a
4	chr16:74455140-74455190	AoSMC	blood vessel:	n/a
5	chr16:74441639-74441689	SK-N-MC	brain:	n/a
6	chr16:74455140-74455190	GM19239	blood:	n/a
7	chr16:74455140-74455190	HEEpiC	esophagus:	n/a
8	chr16:74446218-74446268	Jurkat	blood:	n/a
9	chr16:74406059-74406109	Hepatocyte	liver:	n/a
10	chr16:74455140-74455190	BE2_C	brain:	n/a
11	chr16:74441639-74441689	RPTEC	kidney:	n/a
12	chr16:74406059-74406109	HRPEpiC	eye:	n/a
13	chr16:74406059-74406109	AoSMC	blood vessel:	n/a
14	chr16:74446218-74446268	HRE	kidney:	n/a
15	chr16:74455140-74455190	MCF-7	breast:	n/a
16	chr16:74406059-74406109	LNCaP	prostate:	n/a
17	chr16:74406059-74406109	NH-A	brain:	n/a
18	chr16:74455140-74455190	HNPCEpiC	eye:	n/a
19	chr16:74446218-74446268	HRPEpiC	eye:	n/a
20	chr16:74446218-74446268	BE2_C	brain:	n/a
21	chr16:74441639-74441689	HPAEpiC	pulmonary alveolar:	n/a
22	chr16:74455140-74455190	Caco-2	colon:	n/a
23	chr16:74455140-74455190	T-47D	breast:	n/a
24	chr16:74406059-74406109	HAEpiC	amniotic membrane:	n/a
25	chr16:74441639-74441689	PFSK-1	brain:	n/a
26	chr16:74446218-74446268	RPTEC	kidney:	n/a
27	chr16:74455140-74455190	HL-60	blood:	n/a
28	chr16:74406059-74406109	HEK293	kidney:	embryo
29	chr16:74455140-74455190	PFSK-1	brain:	n/a
30	chr16:74446218-74446268	PFSK-1	brain:	n/a
31	chr16:74406059-74406109	HCM	heart:	n/a
32	chr16:74455140-74455190	HRE	kidney:	n/a
33	chr16:74441639-74441689	GM12892	blood:	n/a
34	chr16:74446218-74446268	Hela-S3	cervix:	n/a
35	chr16:74441639-74441689	GM12878	blood:	n/a
36	chr16:74441639-74441689	T-47D	breast:	n/a
37	chr16:74446218-74446268	BJ	skin:	n/a
38	chr16:74446218-74446268	NT2-D1	testis:	n/a
39	chr16:74406059-74406109	SK-N-MC	brain:	n/a
40	chr16:74406059-74406109	AG10803	skin:	n/a
41	chr16:74406059-74406109	A549	lung:	n/a
42	chr16:74446218-74446268	SK-N-SH_RA	brain:	n/a
43	chr16:74406059-74406109	Caco-2	colon:	n/a
44	chr16:74446218-74446268	HEK293	kidney:	embryo
45	chr16:74406059-74406109	NHBE	bronchial:	n/a
46	chr16:74455140-74455190	HepG2	liver:	n/a
47	chr16:74446218-74446268	LNCaP	prostate:	n/a
48	chr16:74406059-74406109	RPTEC	kidney:	n/a
49	chr16:74446218-74446268	NHDF-neo	bronchial:	n/a
50	chr16:74406059-74406109	PrEC	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC18B-1	chr16:74411642-74411717	XLOC_012009
2	lnc-CLEC18B-1	chr16:74411388-74411587	XLOC_012009

No data

Variant related genes	Relation type
NPIPB15	TF binding region
CLEC18B	TF binding region
ENSG00000261170	TF binding region
ENSG00000214331	TF binding region
NPIPB15	CpG island
CLEC18B	CpG island
ENSG00000261170	CpG island
ENSG00000214331	CpG island

Extended variants
information (count: 1718 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1718 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559889859	chr16:74405110-74405111	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs572246418	chr16:74405198-74405199	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528818909	chr16:74405228-74405229	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs552082624	chr16:74405262-74405263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186951481	chr16:74405263-74405264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532924632	chr16:74405265-74405266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549914586	chr16:74405268-74405269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569605632	chr16:74405269-74405270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531016425	chr16:74405270-74405271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548945236	chr16:74405294-74405295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565849811	chr16:74405302-74405303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534628543	chr16:74405308-74405309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557600123	chr16:74405309-74405310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12446326	chr16:74405323-74405324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191800553	chr16:74405332-74405333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574096527	chr16:74405352-74405353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543093737	chr16:74405388-74405389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553319973	chr16:74405421-74405422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536689466	chr16:74405463-74405464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76076525	chr16:74405473-74405474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58237191	chr16:74405474-74405475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184238668	chr16:74405480-74405481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565540171	chr16:74405502-74405503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113094584	chr16:74405525-74405526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112931232	chr16:74405558-74405559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530912596	chr16:74405562-74405563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201667766	chr16:74405600-74405601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529011324	chr16:74405602-74405603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549038777	chr16:74405606-74405607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565755367	chr16:74405656-74405657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528237388	chr16:74405676-74405677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551270993	chr16:74405682-74405683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571161392	chr16:74405700-74405701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144398899	chr16:74405706-74405707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146593688	chr16:74405731-74405732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376754904	chr16:74405747-74405748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567630551	chr16:74405749-74405750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58332217	chr16:74405750-74405751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11347468	chr16:74405769-74405770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374142006	chr16:74405779-74405780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398029915	chr16:74405781-74405782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147987179	chr16:74405790-74405791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573488811	chr16:74405832-74405833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545574687	chr16:74405837-74405838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140684050	chr16:74405849-74405850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576050162	chr16:74405863-74405864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544904578	chr16:74405864-74405865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555674162	chr16:74405881-74405882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187432277	chr16:74405894-74405895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542370397	chr16:74405908-74405909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	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

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74403000-74440600	Weak transcription	Right Atrium	heart
2	chr16:74403200-74406200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:74403200-74407200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr16:74404200-74406400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr16:74406200-74406400	Bivalent Enhancer	HepG2	liver
6	chr16:74406200-74407600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:74406400-74406600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr16:74407200-74407400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:74407400-74407600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:74407600-74408600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr16:74408600-74408800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:74408600-74408800	Bivalent Enhancer	Fetal Stomach	stomach
13	chr16:74416200-74416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr16:74416400-74416800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:74416400-74416800	Enhancers	Primary T cells from cord blood	blood
16	chr16:74416400-74416800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr16:74416400-74416800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:74423800-74430400	Weak transcription	Ovary	ovary
19	chr16:74423800-74431400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr16:74423800-74432400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:74424000-74430800	Weak transcription	Brain Anterior Caudate	brain
22	chr16:74424600-74430400	Weak transcription	Adipose Nuclei	Adipose
23	chr16:74425400-74425800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:74425400-74429200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:74425400-74429800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr16:74429200-74432400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr16:74429200-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:74429800-74430200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr16:74429800-74430800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr16:74429800-74430800	Enhancers	Fetal Kidney	kidney
31	chr16:74429800-74431000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr16:74429800-74431000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr16:74429800-74431000	Enhancers	Fetal Muscle Trunk	muscle
34	chr16:74429800-74432600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr16:74429800-74432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr16:74430000-74430800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:74430200-74431000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:74430200-74431000	Enhancers	Fetal Muscle Leg	muscle
39	chr16:74430400-74430600	Enhancers	Rectal Smooth Muscle	rectum
40	chr16:74430400-74430600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr16:74430400-74430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:74430400-74430800	Enhancers	Adipose Nuclei	Adipose
43	chr16:74430400-74430800	Enhancers	Fetal Lung	lung
44	chr16:74430400-74431000	Enhancers	Fetal Brain Female	brain
45	chr16:74430400-74431000	Enhancers	Ovary	ovary
46	chr16:74430400-74432400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr16:74430400-74433000	Enhancers	Fetal Stomach	stomach
48	chr16:74430400-74433000	Enhancers	HUVEC	blood vessel
49	chr16:74430600-74431800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr16:74430600-74432000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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