Variant report

Variant	esv1805402
Chromosome Location	chr19:27801814-28217887
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1161)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1161 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:28105728-28106101	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr19:27941380-27941399	K562	blood:	n/a	n/a
3	BACH1	chr19:27907624-27907648	K562	blood:	n/a	n/a
4	BACH1	chr19:27888281-27888308	K562	blood:	n/a	n/a
5	BATF	chr19:27902659-27902917	GM12878	blood:	n/a	n/a
6	BATF	chr19:27897158-27897472	GM12878	blood:	n/a	n/a
7	BATF	chr19:27802596-27802885	GM12878	blood:	n/a	n/a
8	BATF	chr19:27806827-27807070	GM12878	blood:	n/a	n/a
9	BATF	chr19:27904673-27904894	GM12878	blood:	n/a	n/a
10	BATF	chr19:27804588-27804797	GM12878	blood:	n/a	n/a
11	BATF	chr19:27902669-27902979	GM12878	blood:	n/a	n/a
12	BATF	chr19:27899029-27899326	GM12878	blood:	n/a	n/a
13	BATF	chr19:27868294-27868587	GM12878	blood:	n/a	n/a
14	BATF	chr19:27897153-27897445	GM12878	blood:	n/a	n/a
15	BATF	chr19:27880551-27880779	GM12878	blood:	n/a	n/a
16	BATF	chr19:27899139-27899310	GM12878	blood:	n/a	n/a
17	BATF	chr19:27814882-27815052	GM12878	blood:	n/a	n/a
18	BATF	chr19:27865050-27865350	GM12878	blood:	n/a	n/a
19	BATF	chr19:27860263-27860475	GM12878	blood:	n/a	n/a
20	BATF	chr19:27821568-27821883	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:27802586-27802917	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:27899071-27899250	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:27897065-27897511	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:27868266-27868675	GM12878	blood:	n/a	n/a
25	BCL11A	chr19:27858205-27858422	GM12878	blood:	n/a	n/a
26	BCL11A	chr19:27868323-27868579	GM12878	blood:	n/a	n/a
27	BCL11A	chr19:27806754-27807054	GM12878	blood:	n/a	n/a
28	BCL11A	chr19:27902643-27903061	GM12878	blood:	n/a	n/a
29	BCL11A	chr19:27902664-27902911	GM12878	blood:	n/a	n/a
30	BCL11A	chr19:27897169-27897439	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:27888282-27888307	K562	blood:	n/a	n/a
32	BHLHE40	chr19:27812791-27812976	HepG2	liver:	n/a	n/a
33	BHLHE40	chr19:27835498-27835732	HepG2	liver:	n/a	n/a
34	BHLHE40	chr19:27868329-27868571	HepG2	liver:	n/a	n/a
35	BHLHE40	chr19:27882343-27882544	HepG2	liver:	n/a	n/a
36	BHLHE40	chr19:28045061-28045262	K562	blood:	n/a	n/a
37	BHLHE40	chr19:27902737-27903075	HepG2	liver:	n/a	n/a
38	BHLHE40	chr19:27860251-27860624	HepG2	liver:	n/a	n/a
39	BHLHE40	chr19:27899027-27899261	HepG2	liver:	n/a	n/a
40	BHLHE40	chr19:27821601-27821834	HepG2	liver:	n/a	n/a
41	BHLHE40	chr19:27824316-27824607	HepG2	liver:	n/a	n/a
42	BHLHE40	chr19:27897163-27897361	HepG2	liver:	n/a	n/a
43	BHLHE40	chr19:27941379-27941405	K562	blood:	n/a	n/a
44	BHLHE40	chr19:27895230-27895399	HepG2	liver:	n/a	n/a
45	BRCA1	chr19:27824737-27824812	GM12878	blood:	n/a	n/a
46	BRCA1	chr19:27842054-27842424	GM12878	blood:	n/a	n/a
47	BRCA1	chr19:27842225-27842254	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr19:28045063-28045091	K562	blood:	n/a	n/a
49	CEBPB	chr19:27840501-27840536	HepG2	liver:	n/a	chr19:27840514-27840525
50	CEBPB	chr19:27840438-27840568	IMR90	lung:	n/a	chr19:27840514-27840525

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:18518469..18519030-chr19:27812381..27812905,2	MCF-7	breast:
2	chr19:27812380..27812881-chr7:58041614..58042119,2	MCF-7	breast:
3	chr19:27920492..27922596-chr19:29749954..29752655,2	K562	blood:
4	chr19:27961286..27961807-chr8:46850621..46851139,2	MCF-7	breast:
5	chr19:28208145..28210967-chr19:28212506..28214269,2	K562	blood:
6	chr19:28208145..28210967-chr19:28212506..28214269,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UQCRFS1-9	chr19:28192399-28192553	ENSG00000261824.2
2	lnc-UQCRFS1-9	chr19:28213937-28214088	ENSG00000261824.2
3	lnc-UQCRFS1-9	chr19:28175488-28175515	ENSG00000261824.2
4	lnc-UQCRFS1-9	chr19:28192225-28192553	NONHSAT063963
5	lnc-UQCRFS1-9	chr19:28206069-28206766	XLOC_013282

No data

Variant related genes	Relation type
ENSG00000267696	TF binding region

Extended variants
information (count: 25838 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:25838 , 50 per page) page: 1 2 3 4 5 6 7 ... 517

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7508425	chr19:27801814-27801815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs532016775	chr19:27801836-27801837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs528225324	chr19:27801904-27801905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs576956151	chr19:27801910-27801911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs550141667	chr19:27801913-27801914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs200246514	chr19:27801918-27801919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs189382814	chr19:27801949-27801950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs181707852	chr19:27801958-27801959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545989608	chr19:27801966-27801967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536336993	chr19:27801970-27801971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs548094238	chr19:27801987-27801988	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs566615891	chr19:27801992-27801993	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs201779905	chr19:27801999-27802000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs533863810	chr19:27802003-27802004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs184405348	chr19:27802008-27802009	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558781858	chr19:27802012-27802013	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200865190	chr19:27802030-27802031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577193531	chr19:27802040-27802041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539063898	chr19:27802061-27802062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557386126	chr19:27802067-27802068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558801947	chr19:27802071-27802072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559638168	chr19:27802073-27802074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs575846366	chr19:27802083-27802084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140184190	chr19:27802088-27802089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145239626	chr19:27802089-27802090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543065223	chr19:27802090-27802091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs148254003	chr19:27802092-27802093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs145942710	chr19:27802103-27802104	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs142918762	chr19:27802109-27802110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs147882407	chr19:27802111-27802112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs143552079	chr19:27802118-27802119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs141142388	chr19:27802120-27802121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561345928	chr19:27802144-27802145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs573352930	chr19:27802147-27802148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574623527	chr19:27802156-27802157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs541808027	chr19:27802164-27802165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs565268176	chr19:27802167-27802168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs532666548	chr19:27802168-27802169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs550204772	chr19:27802173-27802174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140812980	chr19:27802179-27802180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs113428523	chr19:27802227-27802228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201688525	chr19:27802233-27802234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs199541550	chr19:27802245-27802246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs111926075	chr19:27802247-27802248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs372932103	chr19:27802252-27802253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548238460	chr19:27802258-27802259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs112704038	chr19:27802261-27802262	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs200025795	chr19:27802262-27802263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs566562021	chr19:27802264-27802265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs139203821	chr19:27802272-27802273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
Lung cancer	18438408	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:606 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27788600-27806600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:27788800-27808600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:27792800-27806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:27797400-27803000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:27798600-27802000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:27802000-27803000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:27802200-27803200	ZNF genes & repeats	Liver	Liver
8	chr19:27802200-27805600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr19:27802600-27803000	ZNF genes & repeats	HUVEC	blood vessel
10	chr19:27804600-27804800	ZNF genes & repeats	Aorta	Aorta
11	chr19:27804600-27804800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
12	chr19:27804600-27805000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:27804600-27806800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr19:27804800-27805000	Weak transcription	Aorta	Aorta
15	chr19:27804800-27805000	ZNF genes & repeats	Psoas Muscle	Psoas
16	chr19:27808200-27808600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
17	chr19:27808200-27808600	Active TSS	Aorta	Aorta
18	chr19:27808200-27808600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
19	chr19:27808200-27809000	ZNF genes & repeats	HUVEC	blood vessel
20	chr19:27808600-27812800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:27809000-27812800	Weak transcription	HUVEC	blood vessel
22	chr19:27812000-27813000	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:27812400-27814800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr19:27812400-27815200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr19:27812600-27813200	ZNF genes & repeats	HepG2	liver
26	chr19:27812600-27813400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr19:27812600-27814800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr19:27812800-27813000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr19:27812800-27813000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:27812800-27813000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr19:27812800-27813000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:27812800-27813000	ZNF genes & repeats	Primary T cells from cord blood	blood
33	chr19:27812800-27813000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
34	chr19:27812800-27813000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:27812800-27813000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr19:27812800-27813000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:27812800-27813000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:27812800-27813000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
39	chr19:27812800-27813000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:27812800-27813000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:27812800-27813000	Enhancers	Aorta	Aorta
42	chr19:27812800-27813000	ZNF genes & repeats	Brain Hippocampus Middle	brain
43	chr19:27812800-27813000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
44	chr19:27812800-27813000	ZNF genes & repeats	Colonic Mucosa	Colon
45	chr19:27812800-27813000	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr19:27812800-27813000	ZNF genes & repeats	Fetal Heart	heart
47	chr19:27812800-27813000	ZNF genes & repeats	Fetal Kidney	kidney
48	chr19:27812800-27813000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr19:27812800-27813000	ZNF genes & repeats	Left Ventricle	heart
50	chr19:27812800-27813000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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