Variant report

Variant	nsv1064718
Chromosome Location	chr19:23683950-23760511
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr19:23737404-23737655	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr19:23702925-23703368	IMR90	lung:	n/a	n/a
3	CEBPB	chr19:23705244-23705712	A549	lung:	n/a	n/a
4	CEBPB	chr19:23704157-23704644	A549	lung:	n/a	n/a
5	CEBPB	chr19:23744142-23744447	K562	blood:	n/a	n/a
6	CEBPB	chr19:23728072-23728616	A549	lung:	n/a	n/a
7	CEBPB	chr19:23726968-23727205	A549	lung:	n/a	chr19:23727071-23727082
8	CEBPB	chr19:23714324-23714886	Hela-S3	cervix:	n/a	chr19:23714556-23714567
9	CEBPB	chr19:23744148-23744592	IMR90	lung:	n/a	n/a
10	CEBPB	chr19:23728169-23728655	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:23714492-23714717	IMR90	lung:	n/a	chr19:23714556-23714567
12	CEBPB	chr19:23726192-23726392	A549	lung:	n/a	n/a
13	CEBPB	chr19:23744087-23744680	A549	lung:	n/a	n/a
14	CEBPB	chr19:23748134-23748691	HepG2	liver:	n/a	n/a
15	CEBPB	chr19:23705291-23705718	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr19:23742030-23742215	IMR90	lung:	n/a	n/a
17	CEBPB	chr19:23728287-23728951	IMR90	lung:	n/a	n/a
18	CEBPB	chr19:23732021-23732658	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr19:23747769-23748706	A549	lung:	n/a	n/a
20	CEBPB	chr19:23703669-23703892	IMR90	lung:	n/a	n/a
21	CEBPB	chr19:23713259-23713285	A549	lung:	n/a	n/a
22	CEBPB	chr19:23726629-23726742	HepG2	liver:	n/a	n/a
23	CEBPB	chr19:23702877-23703664	A549	lung:	n/a	n/a
24	CEBPB	chr19:23726285-23726403	HepG2	liver:	n/a	n/a
25	CEBPB	chr19:23702897-23704641	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr19:23722270-23722731	MCF-7	breast:	n/a	n/a
27	CEBPB	chr19:23714110-23714827	HepG2	liver:	n/a	chr19:23714556-23714567
28	CEBPB	chr19:23746254-23746481	A549	lung:	n/a	n/a
29	CEBPB	chr19:23705280-23705623	IMR90	lung:	n/a	n/a
30	CEBPB	chr19:23707275-23707432	HepG2	liver:	n/a	n/a
31	CEBPB	chr19:23742876-23743205	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:23742838-23743194	A549	lung:	n/a	n/a
33	CEBPB	chr19:23726983-23727207	IMR90	lung:	n/a	chr19:23727071-23727082
34	CEBPB	chr19:23705193-23705662	MCF-7	breast:	n/a	n/a
35	CEBPB	chr19:23744045-23744862	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr19:23744130-23744699	HepG2	liver:	n/a	n/a
37	CEBPB	chr19:23718314-23718394	HepG2	liver:	n/a	chr19:23718378-23718389
38	CEBPB	chr19:23742002-23742164	A549	lung:	n/a	n/a
39	CEBPB	chr19:23746267-23746490	HepG2	liver:	n/a	n/a
40	CEBPB	chr19:23742064-23742103	HepG2	liver:	n/a	n/a
41	CEBPB	chr19:23705300-23705591	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:23714085-23714861	A549	lung:	n/a	chr19:23714556-23714567
43	CEBPB	chr19:23703034-23704567	HepG2	liver:	n/a	n/a
44	CEBPB	chr19:23747772-23748744	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr19:23737273-23737956	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr19:23726956-23727173	HepG2	liver:	n/a	chr19:23727071-23727082
47	CEBPB	chr19:23748278-23748678	IMR90	lung:	n/a	n/a
48	CEBPB	chr19:23748022-23748698	MCF-7	breast:	n/a	n/a
49	CEBPB	chr19:23705258-23705669	MCF-7	breast:	n/a	n/a
50	CHD1	chr19:23710727-23710771	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:23716991..23718899-chr19:23719198..23721188,2	MCF-7	breast:
2	chr19:23716991..23718899-chr19:23719198..23721188,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPSAP58-1	chr19:23741124-23741642	XLOC_013022
2	lnc-ZNF675-1	chr19:23708438-23709389	XLOC_013278
3	lnc-ZNF675-1	chr19:23748014-23748050	XLOC_013278
4	lnc-ZNF675-1	chr19:23708550-23709389	XLOC_013278
5	lnc-ZNF675-1	chr19:23708876-23709389	NONHSAT063926
6	lnc-ZNF675-1	chr19:23714333-23714492	XLOC_013278
7	lnc-RPSAP58-1	chr19:23740397-23740511	XLOC_013022
8	lnc-RPSAP58-1	chr19:23734519-23734611	XLOC_013022
9	lnc-ZNF675-1	chr19:23710720-23710821	NONHSAT063926
10	lnc-ZNF675-1	chr19:23710720-23710816	XLOC_013278
11	lnc-ZNF675-1	chr19:23710720-23710816	XLOC_013278
12	lnc-RPSAP58-1	chr19:23741124-23741230	XLOC_013022
13	lnc-ZNF91-3	chr19:23688077-23688167	NONHSAT063921

No data

Variant related genes	Relation type
ZNF725P	TF binding region
SKIV2L2	miRNA target sites
USP6NL	miRNA target sites
RAB34	miRNA target sites
CYR61	miRNA target sites
NEO1	miRNA target sites
TRAM1	miRNA target sites
MASTL	miRNA target sites

Extended variants
information (count: 3495 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:3495 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202057450	chr19:23692210-23692211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs557063273	chr19:23692231-23692232	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs186446555	chr19:23692275-23692276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73556817	chr19:23692371-23692372	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75384880	chr19:23692411-23692412	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs937205	chr19:23692415-23692416	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116445004	chr19:23692429-23692430	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115821459	chr19:23692430-23692431	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73556818	chr19:23692444-23692445	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539763422	chr19:23692469-23692470	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182451542	chr19:23692554-23692555	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73556820	chr19:23692576-23692577	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs937206	chr19:23692617-23692618	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555385949	chr19:23692620-23692621	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17769629	chr19:23692643-23692644	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567654772	chr19:23692662-23692663	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576524102	chr19:23692698-23692699	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187549276	chr19:23692716-23692717	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553570309	chr19:23692720-23692721	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114423278	chr19:23692758-23692759	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545538651	chr19:23692775-23692776	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563850745	chr19:23692784-23692785	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200271016	chr19:23692794-23692795	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111296277	chr19:23692919-23692920	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs7259933	chr19:23692925-23692926	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542649709	chr19:23692930-23692931	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143502392	chr19:23692950-23692951	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528609987	chr19:23692960-23692961	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77847464	chr19:23692968-23692969	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191538217	chr19:23693005-23693006	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17769652	chr19:23693009-23693010	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs17712908	chr19:23693053-23693054	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs530660830	chr19:23693078-23693079	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs797872	chr19:23693090-23693091	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570000870	chr19:23693121-23693122	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183099949	chr19:23693137-23693138	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7260316	chr19:23693161-23693162	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61599496	chr19:23693169-23693170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34075894	chr19:23693200-23693201	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398034308	chr19:23693209-23693210	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556334385	chr19:23693229-23693230	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188133762	chr19:23693234-23693235	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201962006	chr19:23693260-23693261	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7260447	chr19:23693261-23693262	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371587713	chr19:23693269-23693270	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs61519186	chr19:23693290-23693291	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528385434	chr19:23693324-23693325	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534161610	chr19:23693335-23693336	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs199797315	chr19:23693343-23693344	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545290639	chr19:23693363-23693364	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23692200-23693600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:23692400-23693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:23692600-23693400	Enhancers	Placenta	Placenta
4	chr19:23693400-23693800	Weak transcription	Placenta	Placenta
5	chr19:23693800-23694000	Enhancers	Placenta	Placenta
6	chr19:23694000-23695000	Weak transcription	Placenta	Placenta
7	chr19:23695000-23696000	Enhancers	Placenta	Placenta
8	chr19:23696000-23697800	Weak transcription	Placenta	Placenta
9	chr19:23696200-23697600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr19:23697000-23698000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr19:23697800-23698400	Enhancers	Placenta	Placenta
12	chr19:23699000-23700600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:23699400-23700600	Enhancers	NHEK	skin
14	chr19:23700600-23703600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:23700800-23701200	Enhancers	Left Ventricle	heart
16	chr19:23700800-23702000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:23701400-23701800	Enhancers	Left Ventricle	heart
18	chr19:23702000-23710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:23703600-23705800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:23704400-23705200	Enhancers	HMEC	breast
21	chr19:23705600-23705800	Enhancers	Placenta	Placenta
22	chr19:23705800-23706000	ZNF genes & repeats	Gastric	stomach
23	chr19:23705800-23707000	Weak transcription	Placenta	Placenta
24	chr19:23705800-23707200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:23706000-23708000	Weak transcription	Gastric	stomach
26	chr19:23707000-23707400	Enhancers	Placenta	Placenta
27	chr19:23707000-23707400	Enhancers	Left Ventricle	heart
28	chr19:23707000-23707600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
29	chr19:23707200-23707400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr19:23707200-23707400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr19:23707200-23707400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr19:23707400-23707600	Enhancers	Duodenum Mucosa	Duodenum
33	chr19:23707400-23707600	Enhancers	Stomach Mucosa	stomach
34	chr19:23707400-23707800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr19:23707400-23707800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:23707600-23707800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:23707600-23708800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr19:23707800-23708000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr19:23707800-23708000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr19:23707800-23708800	Weak transcription	Stomach Mucosa	stomach
41	chr19:23707800-23709400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:23708000-23708200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr19:23708000-23708800	Enhancers	Gastric	stomach
44	chr19:23708000-23709000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr19:23708200-23708800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr19:23708600-23709000	Enhancers	Fetal Intestine Large	intestine
47	chr19:23708800-23709000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr19:23708800-23709200	Enhancers	HMEC	breast
49	chr19:23708800-23709400	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr19:23708800-23709400	Enhancers	Stomach Mucosa	stomach

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