Variant report

Variant	esv17956
Chromosome Location	chr19:42772456-42773408
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	ARID3A	chr19:42772131-42772978	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:42772016-42773501	K562	blood:	n/a	n/a
3	ATF1	chr19:42771939-42773502	K562	blood:	n/a	n/a
4	ATF2	chr19:42771881-42773338	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr19:42772114-42773441	GM12878	blood:	n/a	n/a
6	ATF2	chr19:42772120-42773434	GM12878	blood:	n/a	n/a
7	ATF2	chr19:42771955-42773447	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr19:42771594-42773486	A549	lung:	n/a	chr19:42772602-42772615 chr19:42773461-42773470 chr19:42773235-42773244 chr19:42772828-42772836
9	ATF3	chr19:42772414-42773029	K562	blood:	n/a	chr19:42772602-42772615 chr19:42772828-42772836
10	ATF3	chr19:42772107-42772785	K562	blood:	n/a	chr19:42772602-42772615
11	ATF3	chr19:42771750-42773329	A549	lung:	n/a	chr19:42772602-42772615 chr19:42773235-42773244 chr19:42772828-42772836
12	BACH1	chr19:42772085-42772578	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr19:42772347-42772644	GM12878	blood:	n/a	n/a
14	BCL11A	chr19:42772351-42772700	GM12878	blood:	n/a	n/a
15	BCL3	chr19:42771589-42773592	A549	lung:	n/a	chr19:42773504-42773513 chr19:42773235-42773248
16	BCL3	chr19:42771554-42773882	A549	lung:	n/a	chr19:42773504-42773513 chr19:42773235-42773248
17	BCLAF1	chr19:42772340-42773076	GM12878	blood:	n/a	n/a
18	BHLHE40	chr19:42771857-42773384	K562	blood:	n/a	chr19:42772619-42772635
19	BHLHE40	chr19:42772392-42773434	GM12878	blood:	n/a	chr19:42772619-42772635
20	BRCA1	chr19:42772319-42773452	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr19:42772442-42772673	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr19:42772472-42773396	GM12878	blood:	n/a	n/a
23	BRCA1	chr19:42772469-42773401	HepG2	liver:	n/a	n/a
24	CBX3	chr19:42772206-42773477	K562	blood:	n/a	n/a
25	CCNT2	chr19:42772180-42773522	K562	blood:	n/a	chr19:42772524-42772533 chr19:42773461-42773470 chr19:42772578-42772587 chr19:42773235-42773244
26	CEBPB	chr19:42771385-42773002	K562	blood:	n/a	chr19:42772634-42772642 chr19:42772483-42772491
27	CEBPB	chr19:42772097-42773410	Hela-S3	cervix:	n/a	chr19:42773027-42773035 chr19:42772634-42772642 chr19:42773367-42773375 chr19:42772483-42772491
28	CEBPB	chr19:42771394-42772789	HepG2	liver:	n/a	chr19:42772634-42772642 chr19:42772483-42772491
29	CEBPB	chr19:42771492-42773567	A549	lung:	n/a	chr19:42773027-42773035 chr19:42772634-42772642 chr19:42773367-42773375 chr19:42772483-42772491
30	CEBPB	chr19:42771417-42773461	A549	lung:	n/a	chr19:42773027-42773035 chr19:42772634-42772642 chr19:42773367-42773375 chr19:42772483-42772491
31	CEBPB	chr19:42771498-42772799	IMR90	lung:	n/a	chr19:42772634-42772642 chr19:42772483-42772491
32	CEBPB	chr19:42772059-42772727	H1-hESC	embryonic stem cell:	n/a	chr19:42772634-42772642 chr19:42772483-42772491
33	CEBPB	chr19:42772131-42772967	K562	blood:	n/a	chr19:42772634-42772642 chr19:42772483-42772491
34	CEBPD	chr19:42772183-42772539	HepG2	liver:	n/a	chr19:42772238-42772249
35	CEBPD	chr19:42773262-42773570	HepG2	liver:	n/a	n/a
36	CEBPZ	chr19:42772702-42773550	HepG2	liver:	n/a	n/a
37	CHD1	chr19:42772241-42772954	GM12878	blood:	n/a	n/a
38	CHD2	chr19:42772264-42773555	K562	blood:	n/a	chr19:42773462-42773472
39	CHD2	chr19:42772322-42773566	H1-hESC	embryonic stem cell:	n/a	chr19:42773462-42773472
40	CHD2	chr19:42772014-42773588	Hela-S3	cervix:	n/a	chr19:42773462-42773472
41	CHD2	chr19:42772282-42773557	GM12878	blood:	n/a	chr19:42773462-42773472
42	CHD2	chr19:42772328-42773508	HepG2	liver:	n/a	chr19:42773462-42773472
43	CREB1	chr19:42772084-42773587	K562	blood:	n/a	n/a
44	CREB1	chr19:42772287-42773514	A549	lung:	n/a	n/a
45	CREB1	chr19:42772038-42773574	A549	lung:	n/a	n/a
46	CREB1	chr19:42772121-42773576	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr19:42772027-42773906	GM12878	blood:	n/a	n/a
48	CREB1	chr19:42772019-42773619	K562	blood:	n/a	n/a
49	CREB1	chr19:42772676-42773569	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr19:42772393-42773577	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42772446-42772496	Hela-S3	cervix:	n/a
2	chr19:42772446-42772496	Hela-S3	cervix:	n/a
3	chr19:42773364-42773414	BE2_C	brain:	n/a
4	chr19:42772892-42772942	AG04450	lung:	fetal
5	chr19:42772446-42772496	HL-60	blood:	n/a
6	chr19:42773364-42773414	HL-60	blood:	n/a
7	chr19:42773364-42773414	SKMC	muscle:	n/a
8	chr19:42772831-42772881	AG04449	skin:	fetal
9	chr19:42772446-42772496	BJ	skin:	n/a
10	chr19:42772446-42772496	HCT-116	colon:	n/a
11	chr19:42772831-42772881	NB4	blood:	n/a
12	chr19:42772831-42772881	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:42772892-42772942	HRPEpiC	eye:	n/a
14	chr19:42772831-42772881	NH-A	brain:	n/a
15	chr19:42772446-42772496	MCF10A-Er-Src	breast:	n/a
16	chr19:42772892-42772942	Caco-2	colon:	n/a
17	chr19:42772892-42772942	HMEC	breast:	n/a
18	chr19:42772831-42772881	IMR90	lung:	fetal
19	chr19:42772446-42772496	AG09319	gingival:	n/a
20	chr19:42772446-42772496	ovcar-3	ovarian:	n/a
21	chr19:42772892-42772942	ovcar-3	ovarian:	n/a
22	chr19:42773364-42773414	HAEpiC	amniotic membrane:	n/a
23	chr19:42773364-42773414	AG04450	lung:	fetal
24	chr19:42773364-42773414	Hepatocyte	liver:	n/a
25	chr19:42772892-42772942	HIPEpiC	eye:	n/a
26	chr19:42773364-42773414	AG10803	skin:	n/a
27	chr19:42773364-42773414	GM12892	blood:	n/a
28	chr19:42773364-42773414	HIPEpiC	eye:	n/a
29	chr19:42772831-42772881	U87	brain:	n/a
30	chr19:42772446-42772496	GM12878	blood:	n/a
31	chr19:42772831-42772881	CMK	blood:	n/a
32	chr19:42772446-42772496	LNCaP	prostate:	n/a
33	chr19:42772446-42772496	SK-N-MC	brain:	n/a
34	chr19:42772831-42772881	SAEC	small airway:	n/a
35	chr19:42772831-42772881	RPTEC	kidney:	n/a
36	chr19:42772446-42772496	AG04450	lung:	fetal
37	chr19:42772892-42772942	Jurkat	blood:	n/a
38	chr19:42772892-42772942	GM12878	blood:	n/a
39	chr19:42772831-42772881	HL-60	blood:	n/a
40	chr19:42772892-42772942	HepG2	liver:	n/a
41	chr19:42773364-42773414	HCPEpiC	choroid plexus:	n/a
42	chr19:42772831-42772881	AoSMC	blood vessel:	n/a
43	chr19:42773364-42773414	NHBE	bronchial:	n/a
44	chr19:42772446-42772496	GM12892	blood:	n/a
45	chr19:42772446-42772496	A549	lung:	n/a
46	chr19:42772892-42772942	HCT-116	colon:	n/a
47	chr19:42772892-42772942	GM19239	blood:	n/a
48	chr19:42772831-42772881	GM12892	blood:	n/a
49	chr19:42772831-42772881	H1-hESC	embryonic stem cell:	embryo
50	chr19:42773364-42773414	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42771105..42773106-chr19:42805155..42808634,5	K562	blood:
2	chr19:42771398..42774307-chr19:42804493..42807877,4	MCF-7	breast:
3	chr19:42720638..42724432-chr19:42771891..42775014,4	MCF-7	breast:
4	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:

Variant related genes	Relation type
CIC	TF binding region
CIC	CpG island
ENSG00000079462	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000167625	chromatin interactions
ENSG00000268643	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000105722	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545933458	chr19:42772574-42772575	Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs372405973	chr19:42772630-42772631	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs564519021	chr19:42772658-42772659	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs544955384	chr19:42772753-42772754	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs573265416	chr19:42772828-42772829	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs375209382	chr19:42772852-42772853	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs563340068	chr19:42772861-42772862	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs561942295	chr19:42772893-42772894	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs372853254	chr19:42772898-42772899	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs529140820	chr19:42772915-42772916	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs139781504	chr19:42772924-42772925	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs191530095	chr19:42772952-42772953	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs183870070	chr19:42772976-42772977	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs186665715	chr19:42773008-42773009	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs192555418	chr19:42773130-42773131	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs533520887	chr19:42773153-42773154	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs145313441	chr19:42773247-42773248	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs568752867	chr19:42773256-42773257	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs535736537	chr19:42773277-42773278	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs112156934	chr19:42773292-42773293	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs557538040	chr19:42773315-42773316	Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs575745888	chr19:42773365-42773366	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs550035658	chr19:42773389-42773390	Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs561860491	chr19:42773395-42773396	Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	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
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
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:141 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42771800-42772600	Enhancers	Spleen	Spleen
2	chr19:42771800-42774200	Active TSS	NHDF-Ad	bronchial
3	chr19:42771800-42775400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr19:42772000-42773000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:42772000-42773800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:42772000-42773800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:42772000-42773800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:42772000-42773800	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr19:42772000-42774000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr19:42772000-42774000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr19:42772000-42774000	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:42772000-42774000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:42772000-42774000	Active TSS	Esophagus	oesophagus
14	chr19:42772000-42774200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:42772000-42774200	Active TSS	Left Ventricle	heart
16	chr19:42772000-42774400	Active TSS	Lung	lung
17	chr19:42772000-42774400	Active TSS	Ovary	ovary
18	chr19:42772000-42774400	Active TSS	HSMMtube	muscle
19	chr19:42772000-42774800	Active TSS	Right Atrium	heart
20	chr19:42772000-42775200	Active TSS	Psoas Muscle	Psoas
21	chr19:42772000-42775400	Active TSS	Aorta	Aorta
22	chr19:42772200-42772800	Active TSS	Fetal Heart	heart
23	chr19:42772200-42773000	Active TSS	Stomach Mucosa	stomach
24	chr19:42772200-42773600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr19:42772200-42773800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:42772200-42773800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:42772200-42773800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr19:42772200-42773800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr19:42772200-42773800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:42772200-42773800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:42772200-42773800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr19:42772200-42773800	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr19:42772200-42773800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:42772200-42773800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:42772200-42773800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:42772200-42773800	Active TSS	Brain Germinal Matrix	brain
37	chr19:42772200-42773800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr19:42772200-42773800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr19:42772200-42773800	Active TSS	Fetal Intestine Large	intestine
40	chr19:42772200-42773800	Active TSS	Fetal Stomach	stomach
41	chr19:42772200-42773800	Active TSS	Placenta Amnion	Placenta Amnion
42	chr19:42772200-42773800	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:42772200-42773800	Active TSS	A549	lung
44	chr19:42772200-42773800	Active TSS	Hela-S3	cervix
45	chr19:42772200-42774000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:42772200-42774000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:42772200-42774000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:42772200-42774000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:42772200-42774000	Active TSS	Primary T cells from cord blood	blood
50	chr19:42772200-42774000	Active TSS	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links