Variant report

Variant	esv1796501
Chromosome Location	chr19:39723520-39740868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:39728457-39728802	HepG2	liver:	n/a	chr19:39728593-39728609 chr19:39728579-39728595
2	BHLHE40	chr19:39728423-39728840	GM12878	blood:	n/a	chr19:39728593-39728609 chr19:39728579-39728595
3	BHLHE40	chr19:39728458-39728820	K562	blood:	n/a	chr19:39728593-39728609 chr19:39728579-39728595
4	CEBPB	chr19:39731085-39731436	K562	blood:	n/a	chr19:39731251-39731262
5	CEBPB	chr19:39731139-39731423	H1-hESC	embryonic stem cell:	n/a	chr19:39731251-39731262
6	CEBPB	chr19:39731134-39731355	A549	lung:	n/a	chr19:39731251-39731262
7	CEBPB	chr19:39731092-39731382	K562	blood:	n/a	chr19:39731251-39731262
8	CEBPB	chr19:39731155-39731303	HepG2	liver:	n/a	chr19:39731251-39731262
9	CEBPB	chr19:39731083-39731426	HepG2	liver:	n/a	chr19:39731251-39731262
10	CEBPB	chr19:39731115-39731428	IMR90	lung:	n/a	chr19:39731251-39731262
11	CEBPB	chr19:39731083-39731405	A549	lung:	n/a	chr19:39731251-39731262
12	CEBPB	chr19:39731146-39731288	Hela-S3	cervix:	n/a	chr19:39731251-39731262
13	CEBPB	chr19:39729120-39729238	HepG2	liver:	n/a	chr19:39729176-39729187
14	CEBPB	chr19:39731088-39731408	A549	lung:	n/a	chr19:39731251-39731262
15	CHD2	chr19:39728561-39728708	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr19:39737653-39737778	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr19:39735864-39736073	GM19239	blood:	n/a	chr19:39735985-39735994
18	CTCF	chr19:39736040-39736190	GM12872	blood:	n/a	n/a
19	CTCF	chr19:39735790-39736177	K562	blood:	n/a	chr19:39735985-39735994
20	CTCF	chr19:39735927-39736086	GM20000	blood:	n/a	chr19:39735985-39735994
21	CTCF	chr19:39735852-39736119	GM12878	blood:	n/a	chr19:39735985-39735994
22	CTCF	chr19:39735592-39735688	GM12891	blood:	n/a	n/a
23	CTCF	chr19:39735889-39736094	LNCaP	prostate:	n/a	chr19:39735985-39735994
24	CTCF	chr19:39735888-39736000	Lung_OC	lung:	n/a	chr19:39735985-39735994
25	CTCF	chr19:39735757-39736187	A549	lung:	n/a	chr19:39735985-39735994
26	CTCF	chr19:39728600-39728750	GM12868	blood:	n/a	n/a
27	CTCF	chr19:39735912-39736051	Fibrobl	skin:	n/a	chr19:39735985-39735994
28	CTCF	chr19:39735911-39736070	Spleen_OC	spleen:	n/a	chr19:39735985-39735994
29	CTCF	chr19:39723500-39723650	HEK293	kidney:	n/a	n/a
30	CTCF	chr19:39735629-39735670	GM19239	blood:	n/a	n/a
31	CTCF	chr19:39735609-39735688	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:39735625-39735719	GM12892	blood:	n/a	n/a
33	CTCF	chr19:39735864-39736110	GM13977	blood:	n/a	chr19:39735985-39735994
34	CTCF	chr19:39723520-39723670	MCF-7	breast:	n/a	n/a
35	CTCF	chr19:39735954-39736080	HUVEC	blood vessel:	n/a	chr19:39735985-39735994
36	CTCF	chr19:39736060-39736210	HEK293	kidney:	n/a	n/a
37	CTCF	chr19:39735787-39736049	A549	lung:	n/a	chr19:39735985-39735994
38	CTCF	chr19:39736020-39736170	HepG2	liver:	n/a	n/a
39	CTCF	chr19:39737953-39738025	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr19:39735811-39736156	A549	lung:	n/a	chr19:39735985-39735994
41	CTCF	chr19:39735853-39736103	GM12891	blood:	n/a	chr19:39735985-39735994
42	CTCF	chr19:39737611-39737672	Lung_OC	lung:	n/a	n/a
43	CTCF	chr19:39738280-39738430	SAEC	small airway:	n/a	n/a
44	CTCF	chr19:39735873-39736085	Gliobla	brain:	n/a	chr19:39735985-39735994
45	CTCF	chr19:39735952-39736015	ProgFib	skin:	n/a	chr19:39735985-39735994
46	CTCF	chr19:39735783-39736242	K562	blood:	n/a	chr19:39735985-39735994
47	CTCF	chr19:39735480-39735630	HEK293	kidney:	n/a	n/a
48	CTCF	chr19:39735846-39736096	MCF-7	breast:	n/a	chr19:39735985-39735994
49	CTCF	chr19:39736040-39736190	GM12870	blood:	n/a	n/a
50	CTCF	chr19:39735818-39736106	MCF-7	breast:	n/a	chr19:39735985-39735994

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39739215-39739265	SKMC	muscle:	n/a
2	chr19:39737768-39737818	GM19239	blood:	n/a
3	chr19:39734312-39734362	BJ	skin:	n/a
4	chr19:39736690-39736740	HCM	heart:	n/a
5	chr19:39737804-39737854	HRCEpiC	kidney:	n/a
6	chr19:39739555-39739605	SAEC	small airway:	n/a
7	chr19:39739555-39739605	MCF-7	breast:	n/a
8	chr19:39737768-39737818	SK-N-MC	brain:	n/a
9	chr19:39738664-39738714	U87	brain:	n/a
10	chr19:39739215-39739265	NB4	blood:	n/a
11	chr19:39736956-39737006	GM12892	blood:	n/a
12	chr19:39738664-39738714	HMEC	breast:	n/a
13	chr19:39738664-39738714	AG10803	skin:	n/a
14	chr19:39737861-39737911	Hepatocyte	liver:	n/a
15	chr19:39736956-39737006	GM06990	blood:	n/a
16	chr19:39735568-39735618	LNCaP	prostate:	n/a
17	chr19:39738664-39738714	NH-A	brain:	n/a
18	chr19:39736690-39736740	HRPEpiC	eye:	n/a
19	chr19:39736956-39737006	HMEC	breast:	n/a
20	chr19:39738664-39738714	PANC-1	pancreas:	n/a
21	chr19:39735568-39735618	ovcar-3	ovarian:	n/a
22	chr19:39737768-39737818	MCF-7	breast:	n/a
23	chr19:39736690-39736740	GM19239	blood:	n/a
24	chr19:39736699-39736749	U87	brain:	n/a
25	chr19:39734312-39734362	ovcar-3	ovarian:	n/a
26	chr19:39739058-39739108	HRE	kidney:	n/a
27	chr19:39736956-39737006	A549	lung:	n/a
28	chr19:39738664-39738714	NT2-D1	testis:	n/a
29	chr19:39737804-39737854	T-47D	breast:	n/a
30	chr19:39736956-39737006	NB4	blood:	n/a
31	chr19:39735568-39735618	A549	lung:	n/a
32	chr19:39734312-39734362	PrEC	prostate:	n/a
33	chr19:39737861-39737911	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:39737804-39737854	H1-hESC	embryonic stem cell:	embryo
35	chr19:39739215-39739265	HRE	kidney:	n/a
36	chr19:39737768-39737818	BE2_C	brain:	n/a
37	chr19:39736699-39736749	HCF	heart:	n/a
38	chr19:39736699-39736749	HEK293	kidney:	embryo
39	chr19:39736699-39736749	A549	lung:	n/a
40	chr19:39734312-39734362	HUVEC	blood vessel:	n/a
41	chr19:39735556-39735606	HL-60	blood:	n/a
42	chr19:39735556-39735606	ECC-1	luminal epithelium:	n/a
43	chr19:39736690-39736740	Hepatocyte	liver:	n/a
44	chr19:39739058-39739108	HUVEC	blood vessel:	n/a
45	chr19:39737804-39737854	Hepatocyte	liver:	n/a
46	chr19:39739058-39739108	NHBE	bronchial:	n/a
47	chr19:39734312-39734362	AG04450	lung:	fetal
48	chr19:39739215-39739265	RPTEC	kidney:	n/a
49	chr19:39735556-39735606	BJ	skin:	n/a
50	chr19:39734312-39734362	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr19:39730623..39732344-chr19:39738357..39741028,2	K562	blood:
2	chr19:39672896..39675810-chr19:39732374..39734924,2	K562	blood:
3	chr19:39727742..39730631-chr19:39743095..39745930,2	K562	blood:
4	chr19:39727142..39728696-chr19:39832975..39834941,2	K562	blood:
5	chr19:39738872..39741336-chr19:39743495..39745954,2	K562	blood:

Variant related genes	Relation type
IFNL3P1	TF binding region
IFNL4	TF binding region
IFNL3	TF binding region
IFNL3P1	CpG island
IFNL4	CpG island
IFNL3	CpG island
ENSG00000272395	chromatin interactions
ENSG00000179134	chromatin interactions
ENSG00000130755	chromatin interactions
ENSG00000213926	chromatin interactions

Extended variants
information (count: 845 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531647488	chr19:39723672-39723673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568905347	chr19:39723679-39723680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140808750	chr19:39723685-39723686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113495369	chr19:39723690-39723691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188364888	chr19:39723704-39723705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149657990	chr19:39723718-39723719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145525593	chr19:39723750-39723751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181593630	chr19:39723778-39723779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12971520	chr19:39723805-39723806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372679221	chr19:39723816-39723817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534108578	chr19:39723821-39723822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549574802	chr19:39723868-39723869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557805073	chr19:39723877-39723878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567822836	chr19:39723882-39723883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538535610	chr19:39723903-39723904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569653283	chr19:39723925-39723926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556943097	chr19:39723926-39723927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577703349	chr19:39723934-39723935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537204625	chr19:39723996-39723997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538675059	chr19:39724013-39724014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530745479	chr19:39724060-39724061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377156201	chr19:39724091-39724092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566615348	chr19:39724109-39724110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572129391	chr19:39724170-39724171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77960762	chr19:39724187-39724188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184308492	chr19:39724221-39724222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148845426	chr19:39724252-39724253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543307304	chr19:39724262-39724263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143361643	chr19:39724272-39724273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368454037	chr19:39724277-39724278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533140164	chr19:39724295-39724296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551389426	chr19:39724344-39724345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560184599	chr19:39724396-39724397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371836687	chr19:39724473-39724474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573941215	chr19:39724494-39724495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79413892	chr19:39724528-39724529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549265540	chr19:39724612-39724613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146371241	chr19:39724625-39724626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567846645	chr19:39724664-39724665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139233845	chr19:39724735-39724736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550480438	chr19:39724765-39724766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572001891	chr19:39724780-39724781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141907962	chr19:39724783-39724784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553821515	chr19:39724784-39724785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572003056	chr19:39724788-39724789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113362352	chr19:39724789-39724790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541302635	chr19:39724793-39724794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58666426	chr19:39724816-39724817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570372251	chr19:39724820-39724821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576173881	chr19:39724843-39724844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pleomorphic liposarcoma	18784837	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
Breast cancer	21509527	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39721400-39728200	Weak transcription	Stomach Mucosa	stomach
2	chr19:39723200-39727200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:39724000-39727200	Weak transcription	Pancreas	Pancrea
4	chr19:39725600-39728200	Weak transcription	Primary T cells from cord blood	blood
5	chr19:39726000-39726200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr19:39726600-39726800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr19:39726600-39726800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:39726600-39729400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:39726800-39727400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr19:39726800-39728200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr19:39726800-39729200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr19:39727000-39728200	Enhancers	Primary T cells fromperipheralblood	blood
13	chr19:39727000-39728200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:39727000-39728400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:39727200-39728200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr19:39727200-39728200	Enhancers	Pancreas	Pancrea
17	chr19:39727200-39729000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:39727200-39729200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:39727200-39729800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:39727400-39728000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr19:39727400-39728200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:39727400-39728400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:39727400-39728400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:39727800-39728000	Enhancers	GM12878-XiMat	blood
25	chr19:39728000-39728200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:39728000-39728200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr19:39728000-39728400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:39728000-39728400	Enhancers	Gastric	stomach
29	chr19:39728000-39728600	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:39728000-39728800	Enhancers	Spleen	Spleen
31	chr19:39728000-39729000	Enhancers	Primary hematopoietic stem cells	blood
32	chr19:39728000-39729000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr19:39728000-39729200	Enhancers	Primary B cells from peripheral blood	blood
34	chr19:39728000-39729200	Enhancers	Placenta	Placenta
35	chr19:39728200-39728400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:39728200-39728400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:39728200-39728400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:39728200-39728400	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr19:39728200-39728400	Flanking Active TSS	Pancreas	Pancrea
40	chr19:39728200-39728400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr19:39728200-39728400	Flanking Active TSS	Hela-S3	cervix
42	chr19:39728200-39728400	Enhancers	K562	blood
43	chr19:39728200-39728600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr19:39728200-39728600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr19:39728200-39728600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:39728200-39728800	Enhancers	Primary T cells from cord blood	blood
47	chr19:39728200-39728800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr19:39728200-39728800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:39728200-39728800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:39728200-39728800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin

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