Variant report

Variant	nsv579076
Chromosome Location	chr19:24056803-24152735
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:411)
CpG islands
(count:122)
Chromatin interactive
region (count:12)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:411 , 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	ATF1	chr19:24082792-24082903	K562	blood:	n/a	n/a
2	ATF1	chr19:24097373-24097798	K562	blood:	n/a	n/a
3	ATF3	chr19:24097347-24097690	K562	blood:	n/a	n/a
4	CBX3	chr19:24097376-24097802	K562	blood:	n/a	n/a
5	CEBPB	chr19:24072664-24072864	HepG2	liver:	n/a	n/a
6	CEBPB	chr19:24067770-24067949	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:24137391-24137485	IMR90	lung:	n/a	n/a
8	CEBPB	chr19:24104270-24104301	K562	blood:	n/a	n/a
9	CEBPB	chr19:24108215-24108391	HepG2	liver:	n/a	chr19:24108307-24108318
10	CEBPB	chr19:24091167-24091261	A549	lung:	n/a	n/a
11	CEBPB	chr19:24081588-24082206	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:24097393-24097705	MCF-7	breast:	n/a	n/a
13	CEBPB	chr19:24089814-24089980	A549	lung:	n/a	n/a
14	CEBPB	chr19:24090268-24090459	A549	lung:	n/a	n/a
15	CEBPB	chr19:24137774-24137977	K562	blood:	n/a	chr19:24137849-24137860
16	CEBPB	chr19:24108206-24108466	A549	lung:	n/a	chr19:24108307-24108318
17	CEBPB	chr19:24081510-24082196	A549	lung:	n/a	n/a
18	CEBPB	chr19:24072689-24072942	A549	lung:	n/a	n/a
19	CEBPB	chr19:24137722-24138015	IMR90	lung:	n/a	chr19:24137849-24137860
20	CEBPB	chr19:24089351-24089528	A549	lung:	n/a	n/a
21	CEBPB	chr19:24097435-24097683	IMR90	lung:	n/a	n/a
22	CEBPB	chr19:24137373-24138010	HepG2	liver:	n/a	chr19:24137849-24137860
23	CEBPB	chr19:24108284-24108419	H1-hESC	embryonic stem cell:	n/a	chr19:24108307-24108318
24	CEBPB	chr19:24108238-24108422	K562	blood:	n/a	chr19:24108307-24108318
25	CEBPB	chr19:24100626-24100978	MCF-7	breast:	n/a	n/a
26	CEBPB	chr19:24098849-24098997	K562	blood:	n/a	n/a
27	CEBPB	chr19:24065481-24065571	HepG2	liver:	n/a	n/a
28	CEBPB	chr19:24097376-24097743	K562	blood:	n/a	n/a
29	CEBPB	chr19:24097506-24097590	A549	lung:	n/a	n/a
30	CEBPB	chr19:24137704-24138014	A549	lung:	n/a	chr19:24137849-24137860
31	CEBPB	chr19:24108200-24108395	IMR90	lung:	n/a	chr19:24108307-24108318
32	CEBPB	chr19:24097420-24097714	K562	blood:	n/a	n/a
33	CEBPB	chr19:24150478-24150629	HepG2	liver:	n/a	n/a
34	CEBPZ	chr19:24070604-24070807	HepG2	liver:	n/a	n/a
35	CEBPZ	chr19:24065321-24065511	HepG2	liver:	n/a	n/a
36	CHD2	chr19:24097496-24097766	GM12878	blood:	n/a	n/a
37	CHD2	chr19:24097507-24098117	K562	blood:	n/a	n/a
38	CREB1	chr19:24097434-24097763	A549	lung:	n/a	n/a
39	CTCF	chr19:24140680-24140830	HMF	breast:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
40	CTCF	chr19:24069956-24070010	GM13976	blood:	n/a	n/a
41	CTCF	chr19:24101899-24101916	GM20000	blood:	n/a	n/a
42	CTCF	chr19:24140580-24140730	BJ	skin:	n/a	n/a
43	CTCF	chr19:24140920-24141070	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr19:24097820-24098070	AG04449	skin:	n/a	n/a
45	CTCF	chr19:24140620-24140770	HVMF	connective:	n/a	n/a
46	CTCF	chr19:24146440-24146590	GM12866	blood:	n/a	n/a
47	CTCF	chr19:24140680-24140830	WI-38	lung:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
48	CTCF	chr19:24140660-24140810	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr19:24148679-24148738	Lung_OC	lung:	n/a	n/a
50	CTCF	chr19:24140760-24140910	HEK293	kidney:	n/a	chr19:24140813-24140822 chr19:24140815-24140825

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:24097753-24097803	NHBE	bronchial:	n/a
2	chr19:24097753-24097803	AoSMC	blood vessel:	n/a
3	chr19:24152294-24152344	RPTEC	kidney:	n/a
4	chr19:24097753-24097803	BE2_C	brain:	n/a
5	chr19:24152294-24152344	HEEpiC	esophagus:	n/a
6	chr19:24097753-24097803	BJ	skin:	n/a
7	chr19:24097753-24097803	HAEpiC	amniotic membrane:	n/a
8	chr19:24097753-24097803	AG09319	gingival:	n/a
9	chr19:24152294-24152344	BJ	skin:	n/a
10	chr19:24097753-24097803	Caco-2	colon:	n/a
11	chr19:24097753-24097803	SK-N-MC	brain:	n/a
12	chr19:24152294-24152344	HCT-116	colon:	n/a
13	chr19:24097753-24097803	NH-A	brain:	n/a
14	chr19:24097753-24097803	CMK	blood:	n/a
15	chr19:24097753-24097803	AG04449	skin:	fetal
16	chr19:24097753-24097803	SK-N-SH	brain:	n/a
17	chr19:24152294-24152344	HAEpiC	amniotic membrane:	n/a
18	chr19:24152294-24152344	LNCaP	prostate:	n/a
19	chr19:24152294-24152344	IMR90	lung:	fetal
20	chr19:24152294-24152344	BE2_C	brain:	n/a
21	chr19:24097753-24097803	HMEC	breast:	n/a
22	chr19:24097753-24097803	NB4	blood:	n/a
23	chr19:24097753-24097803	GM19239	blood:	n/a
24	chr19:24097753-24097803	RPTEC	kidney:	n/a
25	chr19:24097753-24097803	HNPCEpiC	eye:	n/a
26	chr19:24097753-24097803	HIPEpiC	eye:	n/a
27	chr19:24152294-24152344	HCPEpiC	choroid plexus:	n/a
28	chr19:24097753-24097803	MCF10A-Er-Src	breast:	n/a
29	chr19:24152294-24152344	ProgFib	skin:	n/a
30	chr19:24152294-24152344	Jurkat	blood:	n/a
31	chr19:24152294-24152344	PrEC	prostate:	n/a
32	chr19:24152294-24152344	MCF-7	breast:	n/a
33	chr19:24152294-24152344	Hela-S3	cervix:	n/a
34	chr19:24097753-24097803	LNCaP	prostate:	n/a
35	chr19:24097753-24097803	HRCEpiC	kidney:	n/a
36	chr19:24152294-24152344	GM12892	blood:	n/a
37	chr19:24152294-24152344	SK-N-SH_RA	brain:	n/a
38	chr19:24097753-24097803	PFSK-1	brain:	n/a
39	chr19:24152294-24152344	GM06990	blood:	n/a
40	chr19:24097753-24097803	AG10803	skin:	n/a
41	chr19:24097753-24097803	NHDF-neo	bronchial:	n/a
42	chr19:24152294-24152344	HNPCEpiC	eye:	n/a
43	chr19:24097753-24097803	H1-hESC	embryonic stem cell:	embryo
44	chr19:24152294-24152344	HRCEpiC	kidney:	n/a
45	chr19:24152294-24152344	K562	blood:	n/a
46	chr19:24097753-24097803	HL-60	blood:	n/a
47	chr19:24152294-24152344	GM19239	blood:	n/a
48	chr19:24097753-24097803	ProgFib	skin:	n/a
49	chr19:24097753-24097803	PANC-1	pancreas:	n/a
50	chr19:24152294-24152344	HepG2	liver:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:24097706..24100500-chr19:24267529..24270344,3	K562	blood:
2	chr19:24098019..24099596-chr19:24100994..24103194,2	K562	blood:
3	chr19:24121908..24123986-chr19:24125230..24127009,2	MCF-7	breast:
4	chr19:24097916..24099582-chr19:24104881..24106475,2	K562	blood:
5	chr19:24098019..24099596-chr19:24100994..24103194,2	K562	blood:
6	chr19:24127186..24129970-chr19:24140101..24141968,2	K562	blood:
7	chr19:24090411..24092500-chr19:24096453..24099025,2	K562	blood:
8	chr19:24121908..24123986-chr19:24125230..24127009,2	MCF-7	breast:
9	chr19:24093000..24094884-chr19:24096609..24099585,2	K562	blood:
10	chr19:24113206..24114972-chr19:24116698..24118505,2	K562	blood:
11	chr19:24095542..24098509-chr19:24107269..24108889,2	K562	blood:
12	chr19:24097916..24099582-chr19:24104881..24106475,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF681-2	chr19:24101883-24103000	ENSG00000104777
2	lnc-RPSAP58-4	chr19:24110590-24112089	ENSG00000269397.1
3	lnc-ZNF681-2	chr19:24134950-24135238	NONHSAT063949
4	lnc-ZNF681-2	chr19:24134972-24135238	ENSG00000104777
5	lnc-ZNF681-2	chr19:24140533-24140732	ENSG00000104777
6	lnc-ZNF254-2	chr19:24118022-24118975	NONHSAT063946
7	lnc-ZNF681-2	chr19:24140533-24141028	NONHSAT063949

No data

Variant related genes	Relation type
ZNF726	TF binding region
ENSG00000267924	TF binding region
ZNF92P3	TF binding region
ENSG00000269397	TF binding region
ENSG00000269289	TF binding region
ZNF726	CpG island
ENSG00000267924	CpG island
ZNF92P3	CpG island
ENSG00000269397	CpG island
ENSG00000269289	CpG island
ENSG00000269289	chromatin interactions
ENSG00000213967	chromatin interactions
ENSG00000213096	chromatin interactions
ENSG00000269421	chromatin interactions
RALB	miRNA target sites
PGRMC1	miRNA target sites

Extended variants
information (count: 3490 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:3490 , 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	rs7257737	chr19:24056803-24056804	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536571701	chr19:24056850-24056851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548330913	chr19:24056893-24056894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566585897	chr19:24056927-24056928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373507641	chr19:24056950-24056951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183013014	chr19:24056997-24056998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368383804	chr19:24057039-24057040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558415223	chr19:24057062-24057063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139227659	chr19:24057063-24057064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187295839	chr19:24057064-24057065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12463053	chr19:24057076-24057077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574766481	chr19:24057158-24057159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542176205	chr19:24057164-24057165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144212565	chr19:24057183-24057184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572596478	chr19:24057187-24057188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76032829	chr19:24057266-24057267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116807707	chr19:24057280-24057281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs193300376	chr19:24057319-24057320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539532797	chr19:24057337-24057338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371902393	chr19:24057370-24057371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185522413	chr19:24057409-24057410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562079072	chr19:24057428-24057429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530000280	chr19:24057446-24057447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548216247	chr19:24057447-24057448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559729511	chr19:24057471-24057472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368060374	chr19:24057511-24057512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527534260	chr19:24057544-24057545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552358925	chr19:24057552-24057553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56839283	chr19:24057561-24057562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537574124	chr19:24057567-24057568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555707396	chr19:24057587-24057588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11878343	chr19:24057606-24057607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs536140784	chr19:24057613-24057614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190478654	chr19:24057617-24057618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192328578	chr19:24057619-24057620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62114185	chr19:24057624-24057625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558406707	chr19:24057637-24057638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140066345	chr19:24057672-24057673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59317334	chr19:24057681-24057682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8101148	chr19:24057686-24057687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142579134	chr19:24057694-24057695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141889367	chr19:24057702-24057703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56257424	chr19:24057719-24057720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201449766	chr19:24057720-24057721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199689200	chr19:24057722-24057723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529318698	chr19:24057730-24057731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542098737	chr19:24057739-24057740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560148762	chr19:24057770-24057771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117300929	chr19:24057826-24057827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551928826	chr19:24057827-24057828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	18194544	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24048200-24059600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:24054200-24057200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:24054600-24060000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:24058200-24060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:24059200-24060200	Enhancers	Fetal Lung	lung
6	chr19:24059200-24060400	Enhancers	Gastric	stomach
7	chr19:24059200-24060600	Enhancers	Placenta	Placenta
8	chr19:24059200-24060600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:24059600-24060400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:24059600-24060600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr19:24059800-24060200	Enhancers	Colonic Mucosa	Colon
12	chr19:24060000-24060200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:24060000-24060600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:24060000-24060800	ZNF genes & repeats	Lung	lung
15	chr19:24060400-24065200	Weak transcription	Gastric	stomach
16	chr19:24060800-24065200	Weak transcription	Lung	lung
17	chr19:24061400-24063400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:24063000-24063400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr19:24064600-24067600	Enhancers	Liver	Liver
20	chr19:24064800-24066000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr19:24065000-24065400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:24065000-24065400	Enhancers	Colonic Mucosa	Colon
23	chr19:24065000-24065600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr19:24065200-24065600	Enhancers	Gastric	stomach
25	chr19:24065200-24065600	Enhancers	Lung	lung
26	chr19:24065400-24065800	Enhancers	Stomach Mucosa	stomach
27	chr19:24065600-24065800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr19:24065600-24070600	Weak transcription	Gastric	stomach
29	chr19:24065800-24066400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:24066400-24069000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr19:24067600-24068000	Flanking Active TSS	Liver	Liver
32	chr19:24068000-24071600	Enhancers	Liver	Liver
33	chr19:24069000-24070000	Enhancers	Colonic Mucosa	Colon
34	chr19:24069000-24070400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr19:24069600-24071600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr19:24070000-24070800	Weak transcription	Colonic Mucosa	Colon
37	chr19:24070400-24071000	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:24070600-24071400	Enhancers	Gastric	stomach
39	chr19:24070800-24071200	Active TSS	Colonic Mucosa	Colon
40	chr19:24071000-24071400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:24071400-24071600	ZNF genes & repeats	Colonic Mucosa	Colon
42	chr19:24071400-24071600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr19:24079200-24080000	Enhancers	Liver	Liver
44	chr19:24079400-24080200	Enhancers	Colonic Mucosa	Colon
45	chr19:24079400-24080400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr19:24080200-24084000	Weak transcription	Colonic Mucosa	Colon
47	chr19:24083400-24084000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr19:24084000-24085000	Enhancers	Colonic Mucosa	Colon
49	chr19:24087800-24088200	ZNF genes & repeats	Liver	Liver
50	chr19:24088200-24089200	Weak transcription	Liver	Liver

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