Variant report

Variant	esv1851516
Chromosome Location	chr16:80766198-80813696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr16:80810260-80810424	K562	blood:	n/a	n/a
2	BATF	chr16:80773513-80773713	GM12878	blood:	n/a	chr16:80773626-80773637
3	CEBPB	chr16:80772537-80772732	K562	blood:	n/a	chr16:80772590-80772601
4	CEBPB	chr16:80778697-80779217	MCF-7	breast:	n/a	n/a
5	CEBPB	chr16:80790819-80790993	A549	lung:	n/a	n/a
6	CEBPB	chr16:80767440-80767761	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr16:80785016-80785433	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr16:80805151-80805293	A549	lung:	n/a	n/a
9	CEBPB	chr16:80778913-80778964	K562	blood:	n/a	n/a
10	CEBPB	chr16:80778884-80778977	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr16:80772341-80772898	MCF-7	breast:	n/a	chr16:80772590-80772601
12	CEBPB	chr16:80775638-80776049	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr16:80772493-80772742	HepG2	liver:	n/a	chr16:80772590-80772601
14	CEBPB	chr16:80778803-80779015	HepG2	liver:	n/a	n/a
15	CEBPB	chr16:80772435-80772776	IMR90	lung:	n/a	chr16:80772590-80772601
16	CEBPB	chr16:80769862-80770137	HepG2	liver:	n/a	n/a
17	CEBPB	chr16:80772374-80772810	MCF-7	breast:	n/a	chr16:80772590-80772601
18	CEBPB	chr16:80772474-80772690	A549	lung:	n/a	chr16:80772590-80772601
19	CEBPB	chr16:80772464-80772750	Hela-S3	cervix:	n/a	chr16:80772590-80772601
20	CREB1	chr16:80786573-80786905	GM12878	blood:	n/a	n/a
21	CREB1	chr16:80786408-80786875	GM12878	blood:	n/a	n/a
22	CTCF	chr16:80794560-80794710	HPAF	blood vessel:	n/a	chr16:80794648-80794661
23	CTCF	chr16:80778900-80779050	GM12865	blood:	n/a	n/a
24	CTCF	chr16:80794620-80794770	GM06990	blood:	n/a	chr16:80794648-80794661
25	CTCF	chr16:80778860-80779010	GM12875	blood:	n/a	n/a
26	CTCF	chr16:80794620-80794770	Caco-2	colon:	n/a	chr16:80794648-80794661
27	CTCF	chr16:80778940-80779090	GM12875	blood:	n/a	n/a
28	CTCF	chr16:80794560-80794710	HEK293	kidney:	n/a	chr16:80794648-80794661
29	CTCF	chr16:80794580-80794730	RPTEC	kidney:	n/a	chr16:80794648-80794661
30	CTCF	chr16:80794620-80794770	RPTEC	kidney:	n/a	chr16:80794648-80794661
31	CTCF	chr16:80794600-80794750	HCT-116	colon:	n/a	chr16:80794648-80794661
32	CTCF	chr16:80778980-80779130	GM12865	blood:	n/a	n/a
33	CTCF	chr16:80773780-80773930	GM12865	blood:	n/a	n/a
34	CTCF	chr16:80794620-80794770	AG04450	lung:	n/a	chr16:80794648-80794661
35	CTCF	chr16:80800540-80800690	GM06990	blood:	n/a	n/a
36	CTCF	chr16:80778937-80779011	GM12892	blood:	n/a	n/a
37	CTCF	chr16:80794620-80794770	HepG2	liver:	n/a	chr16:80794648-80794661
38	CTCF	chr16:80778970-80778983	GM19238	blood:	n/a	n/a
39	CTCF	chr16:80810766-80810775	GM13976	blood:	n/a	n/a
40	CTCF	chr16:80794800-80794950	A549	lung:	n/a	n/a
41	CTCF	chr16:80794580-80794730	MCF-7	breast:	n/a	chr16:80794648-80794661
42	EBF1	chr16:80773378-80773717	GM12878	blood:	n/a	n/a
43	ELF1	chr16:80778641-80779192	GM12878	blood:	n/a	n/a
44	ELK1	chr16:80768995-80769019	K562	blood:	n/a	n/a
45	EP300	chr16:80778671-80778703	GM12878	blood:	n/a	n/a
46	FOS	chr16:80812525-80812941	MCF10A-Er-Src	breast:	n/a	chr16:80812783-80812794
47	FOS	chr16:80772460-80772810	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr16:80773456-80773806	MCF10A-Er-Src	breast:	n/a	chr16:80773628-80773640 chr16:80773630-80773638 chr16:80773630-80773639 chr16:80773686-80773695 chr16:80773631-80773638 chr16:80773626-80773637
49	FOS	chr16:80773477-80773802	MCF10A-Er-Src	breast:	n/a	chr16:80773628-80773640 chr16:80773630-80773638 chr16:80773630-80773639 chr16:80773686-80773695 chr16:80773631-80773638 chr16:80773626-80773637
50	FOS	chr16:80777741-80778039	MCF10A-Er-Src	breast:	n/a	chr16:80777894-80777903 chr16:80777896-80777903 chr16:80777893-80777905

No.	Distal block	Cell Line	Cell type
1	chr16:80791934..80794867-chr16:80796683..80798258,2	K562	blood:
2	chr16:80812160..80813982-chr16:80814490..80816336,2	MCF-7	breast:
3	chr16:80650331..80653317-chr16:80787913..80789751,2	MCF-7	breast:
4	chr16:80785744..80787464-chr16:80788203..80790386,2	MCF-7	breast:
5	chr16:80808235..80810529-chr16:80811249..80813336,2	MCF-7	breast:
6	chr16:80812055..80815396-chr16:80837025..80838979,4	MCF-7	breast:
7	chr16:80791934..80794867-chr16:80796683..80798258,2	K562	blood:
8	chr16:80807863..80810063-chr16:80836867..80839644,2	MCF-7	breast:
9	chr16:80789011..80790811-chr16:80792089..80794243,2	MCF-7	breast:
10	chr16:80777749..80781585-chr16:80837001..80839848,3	MCF-7	breast:
11	chr16:80781071..80782918-chr16:80783959..80785487,2	MCF-7	breast:
12	chr16:80779693..80781322-chr16:80792403..80794824,2	MCF-7	breast:
13	chr16:80808235..80810529-chr16:80811249..80813336,2	MCF-7	breast:
14	chr16:80789011..80790811-chr16:80792089..80794243,2	MCF-7	breast:
15	chr16:80795153..80796921-chr16:80801305..80802952,2	MCF-7	breast:
16	chr16:80785744..80787464-chr16:80788203..80790386,2	MCF-7	breast:
17	chr16:80809291..80811612-chr16:80817355..80819809,2	MCF-7	breast:
18	chr16:80781071..80782918-chr16:80783959..80785487,2	MCF-7	breast:
19	chr16:80779693..80781322-chr16:80792403..80794824,2	MCF-7	breast:
20	chr16:80793147..80796035-chr16:80798659..80801085,2	MCF-7	breast:
21	chr16:80785900..80790747-chr16:80791255..80795658,5	MCF-7	breast:
22	chr16:80759949..80762185-chr16:80763649..80766451,2	MCF-7	breast:
23	chr16:80765116..80767269-chr16:80784443..80786538,2	MCF-7	breast:
24	chr16:80801378..80804737-chr16:80832241..80835034,3	MCF-7	breast:
25	chr16:80790763..80793323-chr16:80837043..80838771,2	MCF-7	breast:
26	chr16:80785900..80790747-chr16:80791255..80795658,5	MCF-7	breast:
27	chr16:80765116..80767269-chr16:80784443..80786538,2	MCF-7	breast:
28	chr16:80795037..80797883-chr16:80807258..80809705,2	MCF-7	breast:
29	chr16:80793147..80796035-chr16:80798659..80801085,2	MCF-7	breast:
30	chr16:80756751..80759614-chr16:80770866..80773817,2	MCF-7	breast:
31	chr16:80572758..80574587-chr16:80801032..80802655,2	MCF-7	breast:
32	chr16:80772543..80774780-chr16:80838144..80840162,2	MCF-7	breast:
33	chr16:80795153..80796921-chr16:80801305..80802952,2	MCF-7	breast:
34	chr16:80753856..80755452-chr16:80810403..80813281,2	MCF-7	breast:
35	chr16:80795037..80797883-chr16:80807258..80809705,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DYNLRB2-1	chr16:80770257-80770412	ENSG00000260594.1
2	lnc-DYNLRB2-1	chr16:80775995-80776202	ENSG00000260594.1
3	lnc-DYNLRB2-1	chr16:80772558-80772645	ENSG00000260594.1

Variant related genes	Relation type
ENSG00000260594	TF binding region
CDYL2	TF binding region
ENSG00000166446	chromatin interactions

Extended variants
information (count: 2680 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:2680 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11644231	chr16:80766198-80766199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150129860	chr16:80766200-80766201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143624925	chr16:80766202-80766203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145946805	chr16:80766240-80766241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540861013	chr16:80766284-80766285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140520190	chr16:80766287-80766288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576620532	chr16:80766288-80766289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150428403	chr16:80766298-80766299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568840341	chr16:80766319-80766320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538120641	chr16:80766340-80766341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532860569	chr16:80766348-80766349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551468653	chr16:80766408-80766409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551714154	chr16:80766452-80766453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138182893	chr16:80766469-80766470	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555188352	chr16:80766516-80766517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567211803	chr16:80766616-80766617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149300014	chr16:80766617-80766618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557025076	chr16:80766626-80766627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575612027	chr16:80766630-80766631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75755539	chr16:80766642-80766643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558212896	chr16:80766649-80766650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377137089	chr16:80766665-80766666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17826881	chr16:80766687-80766688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540820570	chr16:80766717-80766718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562276787	chr16:80766720-80766721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116739705	chr16:80766728-80766729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188557264	chr16:80766754-80766755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192864538	chr16:80766766-80766767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376608304	chr16:80766773-80766774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199770486	chr16:80766776-80766777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397949761	chr16:80766779-80766780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535970875	chr16:80766789-80766790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146232556	chr16:80766850-80766851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183418789	chr16:80766866-80766867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561794659	chr16:80766868-80766869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370635000	chr16:80766873-80766874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566226675	chr16:80766877-80766878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374806246	chr16:80766890-80766891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527421707	chr16:80766898-80766899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17754079	chr16:80766902-80766903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117839777	chr16:80766910-80766911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528879045	chr16:80766941-80766942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138145931	chr16:80766943-80766944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544477392	chr16:80766962-80766963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539821266	chr16:80766974-80766975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558169297	chr16:80766980-80766981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578092107	chr16:80766989-80766990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375128395	chr16:80767003-80767004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187116916	chr16:80767017-80767018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534291732	chr16:80767040-80767041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80761800-80769800	Weak transcription	Hela-S3	cervix
2	chr16:80761800-80773400	Weak transcription	Esophagus	oesophagus
3	chr16:80766000-80772800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr16:80767000-80767400	Enhancers	Placenta	Placenta
5	chr16:80767200-80768200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr16:80767400-80785000	Weak transcription	Placenta	Placenta
7	chr16:80767600-80785200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:80767800-80768000	Enhancers	Primary hematopoietic stem cells	blood
9	chr16:80768000-80772800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:80768800-80773800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr16:80769400-80770400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:80769400-80774600	Weak transcription	Primary T cells from cord blood	blood
13	chr16:80769600-80770000	Enhancers	Fetal Intestine Small	intestine
14	chr16:80769600-80770200	Enhancers	Pancreas	Pancrea
15	chr16:80769600-80770400	Enhancers	Liver	Liver
16	chr16:80769600-80773400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:80769800-80770000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:80769800-80770000	Enhancers	Spleen	Spleen
19	chr16:80769800-80773000	Strong transcription	Hela-S3	cervix
20	chr16:80770000-80773400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:80770000-80773400	Weak transcription	Fetal Intestine Small	intestine
22	chr16:80770000-80773400	Weak transcription	Spleen	Spleen
23	chr16:80770200-80773400	Weak transcription	Pancreas	Pancrea
24	chr16:80770200-80773800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr16:80770200-80773800	Weak transcription	NHEK	skin
26	chr16:80770200-80785000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:80771200-80776000	Weak transcription	Brain Angular Gyrus	brain
28	chr16:80771400-80771600	ZNF genes & repeats	Lung	lung
29	chr16:80771600-80773400	Weak transcription	Lung	lung
30	chr16:80772800-80773000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
31	chr16:80773000-80773200	ZNF genes & repeats	Hela-S3	cervix
32	chr16:80773200-80773800	Weak transcription	Hela-S3	cervix
33	chr16:80773400-80773600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:80773400-80774000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:80773400-80774000	ZNF genes & repeats	Esophagus	oesophagus
36	chr16:80773400-80774200	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr16:80773400-80774200	ZNF genes & repeats	Lung	lung
38	chr16:80773400-80774200	ZNF genes & repeats	Pancreas	Pancrea
39	chr16:80773400-80776800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:80773600-80774000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr16:80773600-80774200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
42	chr16:80773800-80774000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr16:80773800-80774200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:80773800-80774200	ZNF genes & repeats	NHEK	skin
45	chr16:80773800-80774400	ZNF genes & repeats	Hela-S3	cervix
46	chr16:80773800-80775000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr16:80774000-80775600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:80774000-80778600	Weak transcription	Esophagus	oesophagus
49	chr16:80774000-80782600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:80774200-80775600	Weak transcription	NHEK	skin

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