Variant report

Variant	esv3444688
Chromosome Location	chr19:24055486-24150674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:408)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:408 , 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	chr19:24098849-24098997	K562	blood:	n/a	n/a
6	CEBPB	chr19:24072689-24072942	A549	lung:	n/a	n/a
7	CEBPB	chr19:24100626-24100978	MCF-7	breast:	n/a	n/a
8	CEBPB	chr19:24065481-24065571	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:24137391-24137485	IMR90	lung:	n/a	n/a
10	CEBPB	chr19:24091167-24091261	A549	lung:	n/a	n/a
11	CEBPB	chr19:24108238-24108422	K562	blood:	n/a	chr19:24108307-24108318
12	CEBPB	chr19:24150478-24150629	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:24081588-24082206	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:24089814-24089980	A549	lung:	n/a	n/a
15	CEBPB	chr19:24108200-24108395	IMR90	lung:	n/a	chr19:24108307-24108318
16	CEBPB	chr19:24108206-24108466	A549	lung:	n/a	chr19:24108307-24108318
17	CEBPB	chr19:24097420-24097714	K562	blood:	n/a	n/a
18	CEBPB	chr19:24067770-24067949	HepG2	liver:	n/a	n/a
19	CEBPB	chr19:24108284-24108419	H1-hESC	embryonic stem cell:	n/a	chr19:24108307-24108318
20	CEBPB	chr19:24097376-24097743	K562	blood:	n/a	n/a
21	CEBPB	chr19:24081510-24082196	A549	lung:	n/a	n/a
22	CEBPB	chr19:24097506-24097590	A549	lung:	n/a	n/a
23	CEBPB	chr19:24104270-24104301	K562	blood:	n/a	n/a
24	CEBPB	chr19:24137774-24137977	K562	blood:	n/a	chr19:24137849-24137860
25	CEBPB	chr19:24090268-24090459	A549	lung:	n/a	n/a
26	CEBPB	chr19:24072664-24072864	HepG2	liver:	n/a	n/a
27	CEBPB	chr19:24137373-24138010	HepG2	liver:	n/a	chr19:24137849-24137860
28	CEBPB	chr19:24089351-24089528	A549	lung:	n/a	n/a
29	CEBPB	chr19:24097393-24097705	MCF-7	breast:	n/a	n/a
30	CEBPB	chr19:24108215-24108391	HepG2	liver:	n/a	chr19:24108307-24108318
31	CEBPB	chr19:24137722-24138015	IMR90	lung:	n/a	chr19:24137849-24137860
32	CEBPB	chr19:24097435-24097683	IMR90	lung:	n/a	n/a
33	CEBPB	chr19:24137704-24138014	A549	lung:	n/a	chr19:24137849-24137860
34	CEBPZ	chr19:24070604-24070807	HepG2	liver:	n/a	n/a
35	CEBPZ	chr19:24065321-24065511	HepG2	liver:	n/a	n/a
36	CHD2	chr19:24097507-24098117	K562	blood:	n/a	n/a
37	CHD2	chr19:24097496-24097766	GM12878	blood:	n/a	n/a
38	CREB1	chr19:24097434-24097763	A549	lung:	n/a	n/a
39	CTCF	chr19:24110520-24110543	Kidney_OC	kidney:	n/a	n/a
40	CTCF	chr19:24069956-24070010	GM13976	blood:	n/a	n/a
41	CTCF	chr19:24098013-24098031	MCF-7	breast:	n/a	n/a
42	CTCF	chr19:24140820-24140970	HMF	breast:	n/a	n/a
43	CTCF	chr19:24146440-24146590	GM12866	blood:	n/a	n/a
44	CTCF	chr19:24140934-24141042	GM20000	blood:	n/a	n/a
45	CTCF	chr19:24101899-24101916	GM20000	blood:	n/a	n/a
46	CTCF	chr19:24140680-24140830	HMF	breast:	n/a	chr19:24140813-24140822 chr19:24140815-24140825
47	CTCF	chr19:24140620-24140770	HVMF	connective:	n/a	n/a
48	CTCF	chr19:24065325-24065334	MCF-7	breast:	n/a	n/a
49	CTCF	chr19:24140640-24140790	AG10803	skin:	n/a	n/a
50	CTCF	chr19:24148679-24148738	Lung_OC	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:24097753-24097803	A549	lung:	n/a
2	chr19:24097753-24097803	NB4	blood:	n/a
3	chr19:24097753-24097803	HCF	heart:	n/a
4	chr19:24097753-24097803	AG10803	skin:	n/a
5	chr19:24097753-24097803	GM19239	blood:	n/a
6	chr19:24097753-24097803	HCM	heart:	n/a
7	chr19:24097753-24097803	ECC-1	luminal epithelium:	n/a
8	chr19:24097753-24097803	HCT-116	colon:	n/a
9	chr19:24097753-24097803	AG04450	lung:	fetal
10	chr19:24097753-24097803	PrEC	prostate:	n/a
11	chr19:24097753-24097803	U87	brain:	n/a
12	chr19:24097753-24097803	PFSK-1	brain:	n/a
13	chr19:24097753-24097803	GM06990	blood:	n/a
14	chr19:24097753-24097803	Hepatocyte	liver:	n/a
15	chr19:24097753-24097803	HCPEpiC	choroid plexus:	n/a
16	chr19:24097753-24097803	AoSMC	blood vessel:	n/a
17	chr19:24097753-24097803	SKMC	muscle:	n/a
18	chr19:24097753-24097803	Caco-2	colon:	n/a
19	chr19:24097753-24097803	HMEC	breast:	n/a
20	chr19:24097753-24097803	ovcar-3	ovarian:	n/a
21	chr19:24097753-24097803	HEK293	kidney:	embryo
22	chr19:24097753-24097803	SAEC	small airway:	n/a
23	chr19:24097753-24097803	HIPEpiC	eye:	n/a
24	chr19:24097753-24097803	BE2_C	brain:	n/a
25	chr19:24097753-24097803	K562	blood:	n/a
26	chr19:24097753-24097803	NHDF-neo	bronchial:	n/a
27	chr19:24097753-24097803	NT2-D1	testis:	n/a
28	chr19:24097753-24097803	SK-N-MC	brain:	n/a
29	chr19:24097753-24097803	AG04449	skin:	fetal
30	chr19:24097753-24097803	HRPEpiC	eye:	n/a
31	chr19:24097753-24097803	SK-N-SH_RA	brain:	n/a
32	chr19:24097753-24097803	ProgFib	skin:	n/a
33	chr19:24097753-24097803	HL-60	blood:	n/a
34	chr19:24097753-24097803	MCF10A-Er-Src	breast:	n/a
35	chr19:24097753-24097803	CMK	blood:	n/a
36	chr19:24097753-24097803	HRCEpiC	kidney:	n/a
37	chr19:24097753-24097803	HepG2	liver:	n/a
38	chr19:24097753-24097803	H1-hESC	embryonic stem cell:	embryo
39	chr19:24097753-24097803	NHBE	bronchial:	n/a
40	chr19:24097753-24097803	GM12878	blood:	n/a
41	chr19:24097753-24097803	Hela-S3	cervix:	n/a
42	chr19:24097753-24097803	HUVEC	blood vessel:	n/a
43	chr19:24097753-24097803	NH-A	brain:	n/a
44	chr19:24097753-24097803	BJ	skin:	n/a
45	chr19:24097753-24097803	PANC-1	pancreas:	n/a
46	chr19:24097753-24097803	MCF-7	breast:	n/a
47	chr19:24097753-24097803	IMR90	lung:	fetal
48	chr19:24097753-24097803	AG09309	skin:	n/a
49	chr19:24097753-24097803	HRE	kidney:	n/a
50	chr19:24097753-24097803	RPTEC	kidney:	n/a

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

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

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

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

No data

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

Extended variants
information (count: 3459 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:3459 , 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	rs554509237	chr19:24055494-24055495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541646015	chr19:24055513-24055514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116518861	chr19:24055534-24055535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148467455	chr19:24055543-24055544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12971479	chr19:24055580-24055581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188349032	chr19:24055588-24055589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557198003	chr19:24055596-24055597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12971291	chr19:24055618-24055619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12971510	chr19:24055621-24055622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12973274	chr19:24055638-24055639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386808164	chr19:24055642-24055643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12971966	chr19:24055644-24055645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200959462	chr19:24055672-24055673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568043432	chr19:24055681-24055682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12971538	chr19:24055688-24055689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12973481	chr19:24055692-24055693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12971785	chr19:24055721-24055722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs199730022	chr19:24055726-24055727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111920421	chr19:24055739-24055740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111594715	chr19:24055750-24055751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386808165	chr19:24055757-24055758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190604869	chr19:24055759-24055760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550011743	chr19:24055768-24055769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182883769	chr19:24055772-24055773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187904554	chr19:24055779-24055780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190918071	chr19:24055792-24055793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182910485	chr19:24055795-24055796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12973731	chr19:24055814-24055815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113577719	chr19:24055815-24055816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12972035	chr19:24055816-24055817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12972062	chr19:24055839-24055840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12972249	chr19:24055861-24055862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12973943	chr19:24055867-24055868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184245881	chr19:24055873-24055874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200474723	chr19:24055874-24055875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55681526	chr19:24055880-24055881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56200625	chr19:24055888-24055889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11085654	chr19:24055904-24055905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111288050	chr19:24055907-24055908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11085655	chr19:24055912-24055913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181570962	chr19:24055913-24055914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11085656	chr19:24055931-24055932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs386808166	chr19:24055941-24055942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111596300	chr19:24055942-24055943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11085658	chr19:24055943-24055944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111415869	chr19:24055952-24055953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185957504	chr19:24055978-24055979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557175569	chr19:24056016-24056017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191169586	chr19:24056031-24056032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542738975	chr19:24056039-24056040	Weak transcription Enhancers	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:704 , 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	chr19:24054800-24056200	Enhancers	Liver	Liver
5	chr19:24058200-24060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:24059200-24060200	Enhancers	Fetal Lung	lung
7	chr19:24059200-24060400	Enhancers	Gastric	stomach
8	chr19:24059200-24060600	Enhancers	Placenta	Placenta
9	chr19:24059200-24060600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr19:24059600-24060400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:24059600-24060600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr19:24059800-24060200	Enhancers	Colonic Mucosa	Colon
13	chr19:24060000-24060200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:24060000-24060600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:24060000-24060800	ZNF genes & repeats	Lung	lung
16	chr19:24060400-24065200	Weak transcription	Gastric	stomach
17	chr19:24060800-24065200	Weak transcription	Lung	lung
18	chr19:24061400-24063400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:24063000-24063400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr19:24064600-24067600	Enhancers	Liver	Liver
21	chr19:24064800-24066000	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr19:24065000-24065400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:24065000-24065400	Enhancers	Colonic Mucosa	Colon
24	chr19:24065000-24065600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr19:24065200-24065600	Enhancers	Gastric	stomach
26	chr19:24065200-24065600	Enhancers	Lung	lung
27	chr19:24065400-24065800	Enhancers	Stomach Mucosa	stomach
28	chr19:24065600-24065800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr19:24065600-24070600	Weak transcription	Gastric	stomach
30	chr19:24065800-24066400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr19:24066400-24069000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr19:24067600-24068000	Flanking Active TSS	Liver	Liver
33	chr19:24068000-24071600	Enhancers	Liver	Liver
34	chr19:24069000-24070000	Enhancers	Colonic Mucosa	Colon
35	chr19:24069000-24070400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
36	chr19:24069600-24071600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr19:24070000-24070800	Weak transcription	Colonic Mucosa	Colon
38	chr19:24070400-24071000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr19:24070600-24071400	Enhancers	Gastric	stomach
40	chr19:24070800-24071200	Active TSS	Colonic Mucosa	Colon
41	chr19:24071000-24071400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr19:24071400-24071600	ZNF genes & repeats	Colonic Mucosa	Colon
43	chr19:24071400-24071600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr19:24079200-24080000	Enhancers	Liver	Liver
45	chr19:24079400-24080200	Enhancers	Colonic Mucosa	Colon
46	chr19:24079400-24080400	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr19:24080200-24084000	Weak transcription	Colonic Mucosa	Colon
48	chr19:24083400-24084000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr19:24084000-24085000	Enhancers	Colonic Mucosa	Colon
50	chr19:24087800-24088200	ZNF genes & repeats	Liver	Liver

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