Variant report

Variant	esv2762040
Chromosome Location	chr19:40258142-40273416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:306)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:40264545-40264659	HepG2	liver:	n/a	n/a
2	BATF	chr19:40269361-40269668	GM12878	blood:	n/a	n/a
3	BATF	chr19:40269416-40269699	GM12878	blood:	n/a	n/a
4	CTCF	chr19:40258020-40258170	GM06990	blood:	n/a	n/a
5	CTCF	chr19:40255694-40258244	SK-N-SH	brain:	n/a	chr19:40257518-40257536 chr19:40256293-40256314 chr19:40256989-40257010 chr19:40256291-40256309 chr19:40257513-40257534 chr19:40257519-40257535 chr19:40256987-40257005 chr19:40256292-40256308 chr19:40256990-40256999
6	EBF1	chr19:40269352-40269743	GM12878	blood:	n/a	n/a
7	EBF1	chr19:40269449-40269764	GM12878	blood:	n/a	n/a
8	FOXA1	chr19:40264447-40264830	HepG2	liver:	n/a	n/a
9	GATA3	chr19:40262494-40262785	T-47D	breast:	n/a	n/a
10	GATA3	chr19:40262482-40262726	T-47D	breast:	n/a	n/a
11	IRF4	chr19:40269286-40269770	GM12878	blood:	n/a	n/a
12	IRF4	chr19:40269372-40269696	GM12878	blood:	n/a	n/a
13	MEF2A	chr19:40269384-40269905	GM12878	blood:	n/a	chr19:40269668-40269683
14	MTA3	chr19:40269298-40269890	GM12878	blood:	n/a	n/a
15	NFIC	chr19:40269389-40269865	GM12878	blood:	n/a	n/a
16	NFYB	chr19:40269488-40269741	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:40258445-40258533	MCF-7	breast:	n/a	n/a
18	RUNX3	chr19:40269337-40269855	GM12878	blood:	n/a	n/a
19	RUNX3	chr19:40269364-40269853	GM12878	blood:	n/a	n/a
20	SRF	chr19:40269385-40269666	GM12878	blood:	n/a	n/a
21	SRF	chr19:40269445-40269644	GM12878	blood:	n/a	n/a
22	TCF7L2	chr19:40266948-40267239	PANC-1	pancreas:	n/a	n/a
23	TCF7L2	chr19:40264444-40264910	PANC-1	pancreas:	n/a	n/a
24	YY1	chr19:40269404-40269651	K562	blood:	n/a	chr19:40269554-40269570 chr19:40269557-40269566
25	YY1	chr19:40269428-40269700	GM12878	blood:	n/a	chr19:40269554-40269570 chr19:40269557-40269566
26	YY1	chr19:40269400-40269635	GM12892	blood:	n/a	chr19:40269554-40269570 chr19:40269557-40269566
27	YY1	chr19:40269426-40269642	GM12891	blood:	n/a	chr19:40269554-40269570 chr19:40269557-40269566

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40267283-40267333	HIPEpiC	eye:	n/a
2	chr19:40267283-40267333	HIPEpiC	eye:	n/a
3	chr19:40269534-40269584	HCT-116	colon:	n/a
4	chr19:40269534-40269584	BJ	skin:	n/a
5	chr19:40267283-40267333	U87	brain:	n/a
6	chr19:40267103-40267153	GM12892	blood:	n/a
7	chr19:40267283-40267333	HAEpiC	amniotic membrane:	n/a
8	chr19:40267283-40267333	ovcar-3	ovarian:	n/a
9	chr19:40266546-40266596	T-47D	breast:	n/a
10	chr19:40267283-40267333	SK-N-SH	brain:	n/a
11	chr19:40269534-40269584	MCF10A-Er-Src	breast:	n/a
12	chr19:40269534-40269584	HCF	heart:	n/a
13	chr19:40266546-40266596	HUVEC	blood vessel:	n/a
14	chr19:40266546-40266596	Jurkat	blood:	n/a
15	chr19:40267283-40267333	T-47D	breast:	n/a
16	chr19:40267283-40267333	NHBE	bronchial:	n/a
17	chr19:40269534-40269584	HCPEpiC	choroid plexus:	n/a
18	chr19:40267283-40267333	Caco-2	colon:	n/a
19	chr19:40266791-40266841	Jurkat	blood:	n/a
20	chr19:40266791-40266841	K562	blood:	n/a
21	chr19:40267283-40267333	NHDF-neo	bronchial:	n/a
22	chr19:40266791-40266841	HCPEpiC	choroid plexus:	n/a
23	chr19:40269534-40269584	RPTEC	kidney:	n/a
24	chr19:40266791-40266841	SKMC	muscle:	n/a
25	chr19:40267103-40267153	IMR90	lung:	fetal
26	chr19:40266546-40266596	PANC-1	pancreas:	n/a
27	chr19:40269534-40269584	AG04450	lung:	fetal
28	chr19:40266546-40266596	HRE	kidney:	n/a
29	chr19:40267283-40267333	HCM	heart:	n/a
30	chr19:40267283-40267333	HRPEpiC	eye:	n/a
31	chr19:40267103-40267153	HepG2	liver:	n/a
32	chr19:40267283-40267333	HepG2	liver:	n/a
33	chr19:40267103-40267153	PFSK-1	brain:	n/a
34	chr19:40269534-40269584	HAEpiC	amniotic membrane:	n/a
35	chr19:40266546-40266596	SK-N-MC	brain:	n/a
36	chr19:40269534-40269584	HIPEpiC	eye:	n/a
37	chr19:40267283-40267333	Hela-S3	cervix:	n/a
38	chr19:40266546-40266596	HCM	heart:	n/a
39	chr19:40267103-40267153	Jurkat	blood:	n/a
40	chr19:40266791-40266841	IMR90	lung:	fetal
41	chr19:40267283-40267333	PFSK-1	brain:	n/a
42	chr19:40266791-40266841	PrEC	prostate:	n/a
43	chr19:40267283-40267333	NH-A	brain:	n/a
44	chr19:40266546-40266596	SK-N-SH_RA	brain:	n/a
45	chr19:40266546-40266596	U87	brain:	n/a
46	chr19:40269534-40269584	HRPEpiC	eye:	n/a
47	chr19:40267103-40267153	HRE	kidney:	n/a
48	chr19:40267103-40267153	HEK293	kidney:	embryo
49	chr19:40266791-40266841	PFSK-1	brain:	n/a
50	chr19:40267103-40267153	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40264679..40266808-chr19:40276400..40277975,2	K562	blood:

No data

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

Extended variants
information (count: 254 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535881564	chr19:40258160-40258161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554517745	chr19:40258186-40258187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34513981	chr19:40258214-40258215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186727939	chr19:40258262-40258263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543139824	chr19:40258294-40258295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs55913854	chr19:40258309-40258310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531962313	chr19:40258339-40258340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530054661	chr19:40258386-40258387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576665099	chr19:40258405-40258406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192189568	chr19:40258412-40258413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548223202	chr19:40258418-40258419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62123700	chr19:40258429-40258430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs376693226	chr19:40258432-40258433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529959580	chr19:40258452-40258453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542671117	chr19:40258453-40258454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561306379	chr19:40258483-40258484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565610481	chr19:40258487-40258488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182930007	chr19:40258493-40258494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188581321	chr19:40258507-40258508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527681362	chr19:40258557-40258558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571767395	chr19:40258564-40258565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532756397	chr19:40258573-40258574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547933458	chr19:40258617-40258618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547387340	chr19:40258626-40258627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566261249	chr19:40258640-40258641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372081478	chr19:40258646-40258647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193259693	chr19:40258653-40258654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551623264	chr19:40258735-40258736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78992382	chr19:40258737-40258738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569343581	chr19:40258767-40258768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202175275	chr19:40258806-40258807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184291762	chr19:40258833-40258834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558275110	chr19:40258859-40258860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189129495	chr19:40258871-40258872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534527305	chr19:40258874-40258875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553097997	chr19:40258879-40258880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113331935	chr19:40258938-40258939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542133737	chr19:40258957-40258958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563427558	chr19:40259000-40259001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80257485	chr19:40259005-40259006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191602133	chr19:40259018-40259019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80217074	chr19:40259020-40259021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75143262	chr19:40259127-40259128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547698733	chr19:40259189-40259190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138861169	chr19:40259191-40259192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35285773	chr19:40259193-40259194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540978006	chr19:40259219-40259220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370760177	chr19:40259234-40259235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184118864	chr19:40259237-40259238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548901967	chr19:40259256-40259257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40254000-40259400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:40255600-40259000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:40257200-40259000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr19:40257400-40258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:40257400-40259000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr19:40257400-40259000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:40257400-40259000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr19:40257400-40259200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:40257400-40259200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:40257400-40259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:40258000-40258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:40258200-40259200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:40258800-40259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr19:40259000-40259600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr19:40259000-40259800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr19:40259000-40260000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr19:40259000-40260000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr19:40259000-40260200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr19:40259200-40259600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr19:40259200-40259600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:40259200-40259800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:40259200-40259800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr19:40259200-40260000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr19:40259400-40260000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr19:40267000-40268000	Enhancers	GM12878-XiMat	blood
26	chr19:40268000-40268400	Weak transcription	GM12878-XiMat	blood
27	chr19:40268400-40270000	Enhancers	GM12878-XiMat	blood

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