Variant report

Variant	esv1794068
Chromosome Location	chr16:69993611-70048808
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:534)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr16:70027831-70028579	GM12878	blood:	n/a	n/a
2	BATF	chr16:70027465-70028625	GM12878	blood:	n/a	chr16:70027829-70027838
3	BATF	chr16:70030873-70031085	GM12878	blood:	n/a	n/a
4	BATF	chr16:70030809-70031132	GM12878	blood:	n/a	n/a
5	BATF	chr16:70027141-70027316	GM12878	blood:	n/a	n/a
6	BCL11A	chr16:70027757-70028623	GM12878	blood:	n/a	n/a
7	BCL11A	chr16:70036786-70037039	GM12878	blood:	n/a	n/a
8	BCL11A	chr16:70036802-70037068	GM12878	blood:	n/a	n/a
9	BCL11A	chr16:70030931-70031131	GM12878	blood:	n/a	n/a
10	BCL11A	chr16:70030895-70031136	GM12878	blood:	n/a	n/a
11	BCL11A	chr16:70028667-70028869	GM12878	blood:	n/a	n/a
12	BCL11A	chr16:70027834-70028563	GM12878	blood:	n/a	n/a
13	BCL11A	chr16:70031808-70032044	GM12878	blood:	n/a	n/a
14	CEBPB	chr16:70033106-70033209	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr16:70040001-70040200	H1-hESC	embryonic stem cell:	n/a	chr16:70040028-70040041
16	CEBPD	chr16:69999182-69999502	HepG2	liver:	n/a	n/a
17	CEBPD	chr16:69999210-69999421	HepG2	liver:	n/a	n/a
18	CTCF	chr16:70007042-70007166	A549	lung:	n/a	n/a
19	CTCF	chr16:70000364-70000446	LNCaP	prostate:	n/a	n/a
20	CTCF	chr16:70027761-70027822	GM13976	blood:	n/a	n/a
21	CTCF	chr16:70030946-70031010	LNCaP	prostate:	n/a	n/a
22	CTCF	chr16:70048100-70048250	HA-sp	spinal cord:	n/a	n/a
23	CTCF	chr16:70007048-70007160	Gliobla	brain:	n/a	n/a
24	CTCF	chr16:70007066-70007207	LNCaP	prostate:	n/a	n/a
25	CTCF	chr16:70007040-70007190	GM12873	blood:	n/a	n/a
26	CTCF	chr16:70007020-70007170	GM06990	blood:	n/a	n/a
27	CTCF	chr16:70004499-70004526	Lung_OC	lung:	n/a	n/a
28	CTCF	chr16:70007046-70007140	MCF-7	breast:	n/a	n/a
29	CTCF	chr16:70002225-70002358	GM13976	blood:	n/a	n/a
30	CTCF	chr16:69993730-69993820	GM13976	blood:	n/a	n/a
31	CTCF	chr16:70007034-70007184	GM12891	blood:	n/a	n/a
32	CTCF	chr16:70007040-70007153	GM19239	blood:	n/a	n/a
33	CTCF	chr16:69994228-69994248	LNCaP	prostate:	n/a	n/a
34	CTCF	chr16:70007036-70007155	GM19238	blood:	n/a	n/a
35	CTCF	chr16:70007020-70007170	GM12869	blood:	n/a	n/a
36	CTCF	chr16:70007049-70007166	K562	blood:	n/a	n/a
37	CTCF	chr16:70007087-70007113	NHEK	skin:	n/a	n/a
38	CTCF	chr16:70007080-70007230	HEK293	kidney:	n/a	n/a
39	CTCF	chr16:70006981-70007209	GM12892	blood:	n/a	n/a
40	CTCF	chr16:70002243-70002328	LNCaP	prostate:	n/a	n/a
41	CTCF	chr16:70030743-70031129	K562	blood:	n/a	n/a
42	CTCF	chr16:70007040-70007190	GM12864	blood:	n/a	n/a
43	CTCF	chr16:70007000-70007150	GM12872	blood:	n/a	n/a
44	CTCF	chr16:70027759-70027806	GM13977	blood:	n/a	n/a
45	CTCF	chr16:70007030-70007169	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr16:69995267-69995309	LNCaP	prostate:	n/a	n/a
47	CTCF	chr16:70007043-70007167	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr16:70007025-70007190	GM12878	blood:	n/a	n/a
49	CTCF	chr16:70030744-70030960	K562	blood:	n/a	n/a
50	CTCF	chr16:70007004-70007185	GM19240	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	chr16:69999425-69999475	GM12891	blood:	n/a
2	chr16:69997368-69997418	NHDF-neo	bronchial:	n/a
3	chr16:69999425-69999475	HCPEpiC	choroid plexus:	n/a
4	chr16:69999859-69999909	PFSK-1	brain:	n/a
5	chr16:70004872-70004922	HEEpiC	esophagus:	n/a
6	chr16:69997368-69997418	AoSMC	blood vessel:	n/a
7	chr16:69999859-69999909	NT2-D1	testis:	n/a
8	chr16:69999425-69999475	MCF-7	breast:	n/a
9	chr16:69999425-69999475	HL-60	blood:	n/a
10	chr16:69999859-69999909	CMK	blood:	n/a
11	chr16:69997368-69997418	NHBE	bronchial:	n/a
12	chr16:69999425-69999475	ProgFib	skin:	n/a
13	chr16:70004872-70004922	AG04449	skin:	fetal
14	chr16:70004872-70004922	NH-A	brain:	n/a
15	chr16:70004872-70004922	HAEpiC	amniotic membrane:	n/a
16	chr16:69999859-69999909	HIPEpiC	eye:	n/a
17	chr16:69999425-69999475	AG09319	gingival:	n/a
18	chr16:69999425-69999475	HEK293	kidney:	embryo
19	chr16:69999425-69999475	MCF10A-Er-Src	breast:	n/a
20	chr16:69997368-69997418	A549	lung:	n/a
21	chr16:69997368-69997418	ECC-1	luminal epithelium:	n/a
22	chr16:69999859-69999909	HCPEpiC	choroid plexus:	n/a
23	chr16:69999425-69999475	BJ	skin:	n/a
24	chr16:69999859-69999909	GM12892	blood:	n/a
25	chr16:69999859-69999909	HRPEpiC	eye:	n/a
26	chr16:69997368-69997418	MCF-7	breast:	n/a
27	chr16:69999859-69999909	HCF	heart:	n/a
28	chr16:70004872-70004922	HEK293	kidney:	embryo
29	chr16:69999425-69999475	GM12878	blood:	n/a
30	chr16:69999859-69999909	Jurkat	blood:	n/a
31	chr16:69999859-69999909	NB4	blood:	n/a
32	chr16:69997368-69997418	NH-A	brain:	n/a
33	chr16:69997368-69997418	AG10803	skin:	n/a
34	chr16:69999425-69999475	H1-hESC	embryonic stem cell:	embryo
35	chr16:69999859-69999909	HepG2	liver:	n/a
36	chr16:70004872-70004922	HIPEpiC	eye:	n/a
37	chr16:69997368-69997418	SK-N-SH_RA	brain:	n/a
38	chr16:69999859-69999909	SAEC	small airway:	n/a
39	chr16:69999859-69999909	HAEpiC	amniotic membrane:	n/a
40	chr16:69999425-69999475	ovcar-3	ovarian:	n/a
41	chr16:69999425-69999475	SAEC	small airway:	n/a
42	chr16:69997368-69997418	IMR90	lung:	fetal
43	chr16:70004872-70004922	ProgFib	skin:	n/a
44	chr16:69999425-69999475	AG10803	skin:	n/a
45	chr16:69999859-69999909	SK-N-MC	brain:	n/a
46	chr16:69999425-69999475	HCT-116	colon:	n/a
47	chr16:69997368-69997418	GM12892	blood:	n/a
48	chr16:69999859-69999909	AG09309	skin:	n/a
49	chr16:70004872-70004922	ovcar-3	ovarian:	n/a
50	chr16:69997368-69997418	HCT-116	colon:	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXOSC6-3	chr16:70011980-70012015	NONHSAT143378
2	lnc-EXOSC6-3	chr16:70011509-70011906	NONHSAT143378
3	lnc-EXOSC6-3	chr16:70016253-70016368	NONHSAT143378
4	lnc-EXOSC6-3	chr16:70012125-70012185	NONHSAT143378

No data

Variant related genes	Relation type
ENSG00000226232	TF binding region
ENSG00000226232	CpG island

Extended variants
information (count: 2150 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2150 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62053356	chr16:69993682-69993683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62053357	chr16:69993901-69993902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62053358	chr16:69993954-69993955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62053359	chr16:69993994-69993995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2650553	chr16:69994613-69994614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2549135	chr16:69995457-69995458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62054262	chr16:69995784-69995785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62054263	chr16:69995811-69995812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3869413	chr16:69996044-69996045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563148757	chr16:69996421-69996422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62054265	chr16:69996482-69996483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62054266	chr16:69996537-69996538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62050606	chr16:69996556-69996557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548761894	chr16:69996559-69996560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372963769	chr16:69996596-69996597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534452141	chr16:69996618-69996619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552381858	chr16:69996682-69996683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570960468	chr16:69996738-69996739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537828505	chr16:69996739-69996740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556158772	chr16:69996750-69996751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62050607	chr16:69996868-69996869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200717896	chr16:69996876-69996877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368179465	chr16:69996922-69996923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201545424	chr16:69996928-69996929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554294472	chr16:69996934-69996935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572946455	chr16:69996947-69996948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540459346	chr16:69996948-69996949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370325241	chr16:69996953-69996954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576896247	chr16:69996957-69996958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543829702	chr16:69996962-69996963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140388616	chr16:69996963-69996964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530372664	chr16:69997079-69997080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542538353	chr16:69997087-69997088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560808411	chr16:69997146-69997147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527866913	chr16:69997171-69997172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552767360	chr16:69997210-69997211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570827434	chr16:69997282-69997283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531848189	chr16:69997369-69997370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374347529	chr16:69997404-69997405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568114454	chr16:69997410-69997411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376143349	chr16:69997432-69997433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554431583	chr16:69997448-69997449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566791759	chr16:69997507-69997508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199732245	chr16:69997537-69997538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13527	chr16:69997606-69997607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558734980	chr16:69997618-69997619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376417231	chr16:69997719-69997720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112215768	chr16:69997827-69997828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1054755	chr16:69997863-69997864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576825600	chr16:69997924-69997925	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69976800-69998600	Weak transcription	Spleen	Spleen
2	chr16:69989800-69998800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:69995400-69998600	Weak transcription	Gastric	stomach
4	chr16:69998400-69998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:69998400-69998600	Enhancers	Adipose Nuclei	Adipose
6	chr16:69998600-69998800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:69998600-69998800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr16:69998600-69998800	Enhancers	Liver	Liver
9	chr16:69998600-69998800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:69998600-69998800	Enhancers	Fetal Muscle Leg	muscle
11	chr16:69998600-69998800	Enhancers	Gastric	stomach
12	chr16:69998600-69998800	Enhancers	Left Ventricle	heart
13	chr16:69998600-69998800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr16:69998600-69999000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr16:69998600-69999000	Enhancers	HUVEC	blood vessel
16	chr16:69998600-69999200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:69998600-69999400	Enhancers	Spleen	Spleen
18	chr16:69998600-69999600	Active TSS	Duodenum Mucosa	Duodenum
19	chr16:69998600-69999600	Active TSS	HSMM	muscle
20	chr16:69998800-69999000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr16:69998800-69999000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:69998800-69999000	Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr16:69998800-69999000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr16:69998800-69999000	Active TSS	Fetal Muscle Trunk	muscle
25	chr16:69998800-69999000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr16:69998800-69999200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr16:69998800-69999200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr16:69998800-69999200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr16:69998800-69999200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr16:69998800-69999200	Flanking Active TSS	Liver	Liver
31	chr16:69998800-69999200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr16:69998800-69999200	Flanking Active TSS	Left Ventricle	heart
33	chr16:69998800-69999200	Active TSS	Placenta Amnion	Placenta Amnion
34	chr16:69998800-69999200	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr16:69998800-69999400	Active TSS	Brain Anterior Caudate	brain
36	chr16:69998800-69999400	Active TSS	Brain Hippocampus Middle	brain
37	chr16:69998800-69999400	Active TSS	Colon Smooth Muscle	Colon
38	chr16:69998800-69999400	Active TSS	Fetal Intestine Large	intestine
39	chr16:69998800-69999400	Active TSS	Gastric	stomach
40	chr16:69998800-69999600	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr16:69998800-69999600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr16:69998800-69999600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:69998800-69999600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr16:69998800-69999600	Active TSS	Primary hematopoietic stem cells	blood
45	chr16:69998800-69999600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr16:69998800-69999600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:69998800-69999600	Active TSS	Muscle Satellite Cultured Cells	--
48	chr16:69998800-69999600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:69998800-69999600	Active TSS	Colonic Mucosa	Colon
50	chr16:69998800-69999600	Active TSS	Fetal Intestine Small	intestine

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