Variant report

Variant	esv17420
Chromosome Location	chr19:56849972-56851425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:56851135-56851431	GM12878	blood:	n/a	n/a
2	BCL3	chr19:56850430-56850729	GM12878	blood:	n/a	n/a
3	CTCF	chr19:56851205-56851233	Kidney_OC	kidney:	n/a	n/a
4	ESR1	chr19:56850321-56850563	T-47D	breast:	n/a	chr19:56850398-56850415
5	ESR1	chr19:56850287-56850487	T-47D	breast:	n/a	chr19:56850398-56850415
6	ESR1	chr19:56850257-56850543	T-47D	breast:	n/a	chr19:56850398-56850415
7	JUND	chr19:56850244-56850494	HepG2	liver:	n/a	chr19:56850321-56850330
8	TBL1XR1	chr19:56851221-56851257	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr19:56850567-56850795	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56851220-56851270	SAEC	small airway:	n/a
2	chr19:56851220-56851270	HCF	heart:	n/a
3	chr19:56851220-56851270	BJ	skin:	n/a
4	chr19:56850658-56850708	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:56851220-56851270	SK-N-MC	brain:	n/a
6	chr19:56850658-56850708	MCF-7	breast:	n/a
7	chr19:56851220-56851270	PrEC	prostate:	n/a
8	chr19:56851220-56851270	NB4	blood:	n/a
9	chr19:56851220-56851270	U87	brain:	n/a
10	chr19:56850658-56850708	RPTEC	kidney:	n/a
11	chr19:56851220-56851270	SKMC	muscle:	n/a
12	chr19:56850658-56850708	GM19239	blood:	n/a
13	chr19:56851220-56851270	AG04450	lung:	fetal
14	chr19:56851220-56851270	A549	lung:	n/a
15	chr19:56850658-56850708	AG10803	skin:	n/a
16	chr19:56850658-56850708	HEEpiC	esophagus:	n/a
17	chr19:56851220-56851270	IMR90	lung:	fetal
18	chr19:56850658-56850708	GM12891	blood:	n/a
19	chr19:56851220-56851270	HCT-116	colon:	n/a
20	chr19:56851220-56851270	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:56851220-56851270	MCF-7	breast:	n/a
22	chr19:56850658-56850708	HMEC	breast:	n/a
23	chr19:56851220-56851270	H1-hESC	embryonic stem cell:	embryo
24	chr19:56851220-56851270	LNCaP	prostate:	n/a
25	chr19:56850658-56850708	AG09309	skin:	n/a
26	chr19:56850658-56850708	HNPCEpiC	eye:	n/a
27	chr19:56851220-56851270	HRE	kidney:	n/a
28	chr19:56851220-56851270	Hela-S3	cervix:	n/a
29	chr19:56851220-56851270	HNPCEpiC	eye:	n/a
30	chr19:56851220-56851270	SK-N-SH	brain:	n/a
31	chr19:56850658-56850708	LNCaP	prostate:	n/a
32	chr19:56850658-56850708	PANC-1	pancreas:	n/a
33	chr19:56850658-56850708	Hela-S3	cervix:	n/a
34	chr19:56851220-56851270	HCM	heart:	n/a
35	chr19:56851220-56851270	NHBE	bronchial:	n/a
36	chr19:56851220-56851270	HIPEpiC	eye:	n/a
37	chr19:56850658-56850708	HIPEpiC	eye:	n/a
38	chr19:56850658-56850708	GM12878	blood:	n/a
39	chr19:56851220-56851270	AG04449	skin:	fetal
40	chr19:56851220-56851270	PANC-1	pancreas:	n/a
41	chr19:56851220-56851270	HRCEpiC	kidney:	n/a
42	chr19:56850658-56850708	K562	blood:	n/a
43	chr19:56851220-56851270	NH-A	brain:	n/a
44	chr19:56851220-56851270	AoSMC	blood vessel:	n/a
45	chr19:56851220-56851270	Caco-2	colon:	n/a
46	chr19:56851220-56851270	Jurkat	blood:	n/a
47	chr19:56850658-56850708	HCF	heart:	n/a
48	chr19:56851220-56851270	GM12891	blood:	n/a
49	chr19:56850658-56850708	GM12892	blood:	n/a
50	chr19:56851220-56851270	HAEpiC	amniotic membrane:	n/a

No data

Variant related genes	Relation type
ENSG00000267145	TF binding region
ENSG00000267145	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576702645	chr19:56849993-56849994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs542399597	chr19:56850034-56850035	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562268746	chr19:56850098-56850099	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572544402	chr19:56850101-56850102	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190378373	chr19:56850253-56850254	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183282995	chr19:56850270-56850271	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs187928859	chr19:56850295-56850296	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs113197994	chr19:56850313-56850314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs151015762	chr19:56850326-56850327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531506092	chr19:56850339-56850340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111981280	chr19:56850435-56850436	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547955348	chr19:56850440-56850441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs8100118	chr19:56850478-56850479	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140971706	chr19:56850489-56850490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547207216	chr19:56850560-56850561	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192488213	chr19:56850588-56850589	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs144759329	chr19:56850599-56850600	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs36056956	chr19:56850601-56850602	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528291954	chr19:56850609-56850610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs576761910	chr19:56850610-56850611	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs146740629	chr19:56850613-56850614	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs140284131	chr19:56850625-56850626	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113340446	chr19:56850633-56850634	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182692665	chr19:56850635-56850636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs34663767	chr19:56850643-56850644	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs199589615	chr19:56850644-56850645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543407070	chr19:56850656-56850657	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563364731	chr19:56850658-56850659	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs531468948	chr19:56850686-56850687	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs548113744	chr19:56850690-56850691	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
31	rs8100966	chr19:56850692-56850693	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs527542556	chr19:56850701-56850702	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs547462700	chr19:56850705-56850706	Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs570413096	chr19:56850720-56850721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs539522236	chr19:56850724-56850725	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs8101055	chr19:56850726-56850727	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs12972607	chr19:56850727-56850728	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12972614	chr19:56850735-56850736	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs35843446	chr19:56850760-56850761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs8103954	chr19:56850794-56850795	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs111772056	chr19:56850805-56850806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140357367	chr19:56850828-56850829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113909637	chr19:56850839-56850840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145040544	chr19:56850862-56850863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113291353	chr19:56850871-56850872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550176458	chr19:56850873-56850874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138880958	chr19:56850896-56850897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8103292	chr19:56850897-56850898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113112030	chr19:56850907-56850908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8103397	chr19:56850915-56850916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56849000-56850200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:56850000-56850200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr19:56850400-56851600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:56851200-56852000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood

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