Variant report

Variant	esv1800006
Chromosome Location	chr16:69982440-70005207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr16:69999182-69999502	HepG2	liver:	n/a	n/a
2	CEBPD	chr16:69999210-69999421	HepG2	liver:	n/a	n/a
3	CTCF	chr16:69985041-69985053	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr16:70004499-70004526	Lung_OC	lung:	n/a	n/a
5	CTCF	chr16:70000364-70000446	LNCaP	prostate:	n/a	n/a
6	CTCF	chr16:69991793-69991895	GM13976	blood:	n/a	n/a
7	CTCF	chr16:69984991-69985236	Gliobla	brain:	n/a	n/a
8	CTCF	chr16:70002225-70002358	GM13976	blood:	n/a	n/a
9	CTCF	chr16:69992952-69992983	LNCaP	prostate:	n/a	n/a
10	CTCF	chr16:69984957-69985245	A549	lung:	n/a	n/a
11	CTCF	chr16:69985065-69985141	A549	lung:	n/a	n/a
12	CTCF	chr16:69995267-69995309	LNCaP	prostate:	n/a	n/a
13	CTCF	chr16:69991772-69991788	GM13976	blood:	n/a	n/a
14	CTCF	chr16:69992990-69993094	LNCaP	prostate:	n/a	n/a
15	CTCF	chr16:70002243-70002328	LNCaP	prostate:	n/a	n/a
16	CTCF	chr16:69993730-69993820	GM13976	blood:	n/a	n/a
17	CTCF	chr16:69985083-69985092	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr16:69994228-69994248	LNCaP	prostate:	n/a	n/a
19	CTCF	chr16:69985093-69985109	Hela-S3	cervix:	n/a	n/a
20	EBF1	chr16:69999357-69999621	GM12878	blood:	n/a	chr16:69999507-69999516
21	EBF1	chr16:69999391-69999669	GM12878	blood:	n/a	chr16:69999507-69999516
22	ELF1	chr16:69999204-69999374	HepG2	liver:	n/a	chr16:69999324-69999336
23	FOSL2	chr16:69983241-69983694	HepG2	liver:	n/a	n/a
24	FOSL2	chr16:69998708-69998955	HepG2	liver:	n/a	n/a
25	FOSL2	chr16:69985654-69986090	HepG2	liver:	n/a	chr16:69985744-69985755
26	FOSL2	chr16:69984871-69985512	HepG2	liver:	n/a	chr16:69985134-69985142 chr16:69984930-69984939
27	FOSL2	chr16:70005052-70005494	HepG2	liver:	n/a	chr16:70005226-70005240 chr16:70005201-70005210
28	FOSL2	chr16:69982512-69982819	HepG2	liver:	n/a	n/a
29	FOSL2	chr16:69999428-69999827	HepG2	liver:	n/a	chr16:69999713-69999722
30	FOSL2	chr16:69998966-69999410	HepG2	liver:	n/a	n/a
31	FOSL2	chr16:69993322-69993555	HepG2	liver:	n/a	n/a
32	FOSL2	chr16:69983861-69984720	HepG2	liver:	n/a	n/a
33	FOSL2	chr16:69993670-69993881	HepG2	liver:	n/a	n/a
34	GABPA	chr16:69998859-69999603	HepG2	liver:	n/a	chr16:69999343-69999357 chr16:69999346-69999357 chr16:69999346-69999360
35	GABPA	chr16:69999073-69999357	A549	lung:	n/a	chr16:69999343-69999357 chr16:69999346-69999357
36	GATA2	chr16:69984936-69985358	K562	blood:	n/a	n/a
37	HDAC2	chr16:69999187-69999426	HepG2	liver:	n/a	n/a
38	HEY1	chr16:69984156-69984393	HepG2	liver:	n/a	chr16:69984374-69984389
39	HEY1	chr16:70002109-70002374	K562	blood:	n/a	n/a
40	HEY1	chr16:70002114-70002407	K562	blood:	n/a	n/a
41	HEY1	chr16:69998999-69999459	HepG2	liver:	n/a	n/a
42	HEY1	chr16:69998907-69999920	HepG2	liver:	n/a	chr16:69999746-69999761
43	JUND	chr16:69999100-69999262	HepG2	liver:	n/a	n/a
44	JUND	chr16:70005171-70005446	HepG2	liver:	n/a	chr16:70005226-70005240 chr16:70005201-70005210
45	JUND	chr16:69984106-69984400	HepG2	liver:	n/a	n/a
46	JUND	chr16:69995793-69996032	HepG2	liver:	n/a	n/a
47	JUND	chr16:69985013-69985256	HepG2	liver:	n/a	chr16:69985134-69985142
48	JUND	chr16:69994180-69994382	HepG2	liver:	n/a	n/a
49	JUND	chr16:69999288-69999402	HepG2	liver:	n/a	n/a
50	JUND	chr16:69999055-69999400	HepG2	liver:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:69988428-69988478	SK-N-SH	brain:	n/a
2	chr16:69999859-69999909	HepG2	liver:	n/a
3	chr16:69999859-69999909	BJ	skin:	n/a
4	chr16:69997368-69997418	NHDF-neo	bronchial:	n/a
5	chr16:69999425-69999475	NB4	blood:	n/a
6	chr16:69999425-69999475	NHBE	bronchial:	n/a
7	chr16:70004872-70004922	PANC-1	pancreas:	n/a
8	chr16:69999425-69999475	H1-hESC	embryonic stem cell:	embryo
9	chr16:69988428-69988478	HCM	heart:	n/a
10	chr16:69984889-69984939	BE2_C	brain:	n/a
11	chr16:69984889-69984939	SK-N-SH	brain:	n/a
12	chr16:69997368-69997418	BJ	skin:	n/a
13	chr16:69984927-69984977	NT2-D1	testis:	n/a
14	chr16:69999425-69999475	HEK293	kidney:	embryo
15	chr16:69999859-69999909	PFSK-1	brain:	n/a
16	chr16:69984927-69984977	A549	lung:	n/a
17	chr16:70004872-70004922	HRPEpiC	eye:	n/a
18	chr16:69984889-69984939	HEEpiC	esophagus:	n/a
19	chr16:69984927-69984977	SK-N-SH_RA	brain:	n/a
20	chr16:69997368-69997418	GM12891	blood:	n/a
21	chr16:69984927-69984977	AG10803	skin:	n/a
22	chr16:69984927-69984977	PFSK-1	brain:	n/a
23	chr16:69988428-69988478	HepG2	liver:	n/a
24	chr16:69999859-69999909	HCT-116	colon:	n/a
25	chr16:69997368-69997418	Hepatocyte	liver:	n/a
26	chr16:69999859-69999909	U87	brain:	n/a
27	chr16:69984927-69984977	GM19239	blood:	n/a
28	chr16:69988428-69988478	Hepatocyte	liver:	n/a
29	chr16:69999425-69999475	HRE	kidney:	n/a
30	chr16:70004872-70004922	GM06990	blood:	n/a
31	chr16:69984927-69984977	AG09319	gingival:	n/a
32	chr16:69999425-69999475	SK-N-MC	brain:	n/a
33	chr16:69997368-69997418	SAEC	small airway:	n/a
34	chr16:69988428-69988478	HRCEpiC	kidney:	n/a
35	chr16:69984927-69984977	HPAEpiC	pulmonary alveolar:	n/a
36	chr16:69997368-69997418	HAEpiC	amniotic membrane:	n/a
37	chr16:69988428-69988478	Jurkat	blood:	n/a
38	chr16:69988428-69988478	A549	lung:	n/a
39	chr16:69999425-69999475	HCPEpiC	choroid plexus:	n/a
40	chr16:69984927-69984977	ProgFib	skin:	n/a
41	chr16:69999859-69999909	PrEC	prostate:	n/a
42	chr16:69999425-69999475	K562	blood:	n/a
43	chr16:69988428-69988478	SK-N-SH_RA	brain:	n/a
44	chr16:69997368-69997418	IMR90	lung:	fetal
45	chr16:69984889-69984939	ECC-1	luminal epithelium:	n/a
46	chr16:69984927-69984977	K562	blood:	n/a
47	chr16:69984927-69984977	NH-A	brain:	n/a
48	chr16:69988428-69988478	HRPEpiC	eye:	n/a
49	chr16:69999425-69999475	ProgFib	skin:	n/a
50	chr16:69984927-69984977	PrEC	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WWP2-3	chr16:69985376-69987715	NONHSAT143377

No data

Variant related genes	Relation type
CLEC18A	TF binding region
CLEC18A	CpG island

Extended variants
information (count: 535 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:535 , 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	rs572771093	chr16:69982444-69982445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533846853	chr16:69982459-69982460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76024593	chr16:69982476-69982477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397834035	chr16:69982497-69982498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558674377	chr16:69982514-69982515	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576963433	chr16:69982728-69982729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544437814	chr16:69982756-69982757	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs60991603	chr16:69982885-69982886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573331284	chr16:69982891-69982892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542390035	chr16:69982899-69982900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2549591	chr16:69982911-69982912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562428645	chr16:69982914-69982915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574613981	chr16:69983014-69983015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202047527	chr16:69983116-69983117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2650533	chr16:69983135-69983136	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200168466	chr16:69983251-69983252	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201107709	chr16:69983379-69983380	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs541819146	chr16:69983606-69983607	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs62053329	chr16:69983724-69983725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199888154	chr16:69983872-69983873	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs560205932	chr16:69983969-69983970	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs376046755	chr16:69984083-69984084	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs552907543	chr16:69984118-69984119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs139813358	chr16:69984145-69984146	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs531801432	chr16:69984156-69984157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs144640712	chr16:69984290-69984291	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs2650535	chr16:69984299-69984300	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550382153	chr16:69984306-69984307	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs2650536	chr16:69984308-69984309	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2650537	chr16:69984430-69984431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs201753638	chr16:69984532-69984533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs568438767	chr16:69984537-69984538	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs62053331	chr16:69984625-69984626	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs199854295	chr16:69984728-69984729	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs2549232	chr16:69984786-69984787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201142381	chr16:69984811-69984812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2650539	chr16:69984928-69984929	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs535573218	chr16:69984939-69984940	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs547350398	chr16:69984979-69984980	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs565741436	chr16:69984999-69985000	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs62053333	chr16:69985153-69985154	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs539498043	chr16:69985243-69985244	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200598028	chr16:69985248-69985249	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs201077214	chr16:69985255-69985256	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs199537784	chr16:69985274-69985275	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs558566760	chr16:69985298-69985299	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201275802	chr16:69985339-69985340	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201892990	chr16:69985340-69985341	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs570759998	chr16:69985343-69985344	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs4985466	chr16:69985383-69985384	Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	21909424	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20841430	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69974600-69986600	Weak transcription	HepG2	liver
2	chr16:69975000-69985200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:69975600-69985200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr16:69976200-69984200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr16:69976800-69998600	Weak transcription	Spleen	Spleen
6	chr16:69977400-69986200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr16:69977400-69988800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:69977600-69985200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr16:69984200-69984400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:69985200-69985400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:69985200-69985400	Enhancers	Brain Hippocampus Middle	brain
12	chr16:69985200-69985600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:69985200-69985600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr16:69985200-69985600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr16:69985600-69986600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr16:69985600-69991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr16:69986200-69987200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr16:69986600-69987000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:69986600-69987000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:69986600-69987200	Enhancers	HepG2	liver
21	chr16:69988800-69989800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:69989800-69998800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:69995400-69998600	Weak transcription	Gastric	stomach
24	chr16:69998400-69998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:69998400-69998600	Enhancers	Adipose Nuclei	Adipose
26	chr16:69998600-69998800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr16:69998600-69998800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr16:69998600-69998800	Enhancers	Liver	Liver
29	chr16:69998600-69998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr16:69998600-69998800	Enhancers	Fetal Muscle Leg	muscle
31	chr16:69998600-69998800	Enhancers	Gastric	stomach
32	chr16:69998600-69998800	Enhancers	Left Ventricle	heart
33	chr16:69998600-69998800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr16:69998600-69999000	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr16:69998600-69999000	Enhancers	HUVEC	blood vessel
36	chr16:69998600-69999200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:69998600-69999400	Enhancers	Spleen	Spleen
38	chr16:69998600-69999600	Active TSS	Duodenum Mucosa	Duodenum
39	chr16:69998600-69999600	Active TSS	HSMM	muscle
40	chr16:69998800-69999000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr16:69998800-69999000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:69998800-69999000	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr16:69998800-69999000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:69998800-69999000	Active TSS	Fetal Muscle Trunk	muscle
45	chr16:69998800-69999000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr16:69998800-69999200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr16:69998800-69999200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr16:69998800-69999200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr16:69998800-69999200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr16:69998800-69999200	Flanking Active TSS	Liver	Liver

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