Variant report

Variant	esv1796063
Chromosome Location	chr19:39274216-39277617
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	chr19:39274947-39275249	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:39276654-39277062	A549	lung:	n/a	chr19:39276929-39276938 chr19:39276927-39276938 chr19:39276929-39276940 chr19:39276927-39276940
3	CEBPB	chr19:39276783-39277114	A549	lung:	n/a	chr19:39276929-39276938 chr19:39276927-39276938 chr19:39276929-39276940 chr19:39276927-39276940
4	CEBPB	chr19:39275070-39275223	HepG2	liver:	n/a	chr19:39275209-39275220
5	CEBPB	chr19:39276794-39277112	HepG2	liver:	n/a	chr19:39276929-39276938 chr19:39276927-39276938 chr19:39276929-39276940 chr19:39276927-39276940
6	CEBPB	chr19:39275019-39275352	HepG2	liver:	n/a	chr19:39275209-39275220
7	CEBPB	chr19:39275062-39275293	K562	blood:	n/a	chr19:39275209-39275220
8	CEBPB	chr19:39276777-39276994	K562	blood:	n/a	chr19:39276929-39276938 chr19:39276927-39276938 chr19:39276929-39276940 chr19:39276927-39276940
9	CEBPB	chr19:39276763-39277079	K562	blood:	n/a	chr19:39276929-39276938 chr19:39276927-39276938 chr19:39276929-39276940 chr19:39276927-39276940
10	CEBPB	chr19:39275046-39275399	A549	lung:	n/a	chr19:39275209-39275220
11	CEBPB	chr19:39276745-39277059	IMR90	lung:	n/a	chr19:39276929-39276938 chr19:39276927-39276938 chr19:39276929-39276940 chr19:39276927-39276940
12	CEBPB	chr19:39274981-39275364	Hela-S3	cervix:	n/a	chr19:39275209-39275220
13	CEBPB	chr19:39274900-39275470	A549	lung:	n/a	chr19:39275209-39275220
14	CEBPB	chr19:39275079-39275339	K562	blood:	n/a	chr19:39275209-39275220
15	CEBPB	chr19:39275016-39275374	A549	lung:	n/a	chr19:39275209-39275220
16	CEBPB	chr19:39275011-39275358	IMR90	lung:	n/a	chr19:39275209-39275220
17	CEBPD	chr19:39274902-39275295	K562	blood:	n/a	chr19:39275209-39275220
18	EP300	chr19:39275021-39275276	K562	blood:	n/a	n/a
19	EP300	chr19:39275000-39275321	Hela-S3	cervix:	n/a	n/a
20	FOS	chr19:39277296-39277563	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr19:39277265-39277566	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr19:39277253-39277566	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL2	chr19:39274963-39275286	A549	lung:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275092-39275103
24	FOSL2	chr19:39274768-39275410	A549	lung:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275092-39275103
25	FOSL2	chr19:39274861-39275263	HepG2	liver:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275092-39275103
26	FOSL2	chr19:39274855-39275267	HepG2	liver:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275092-39275103
27	GATA1	chr19:39274716-39275432	K562	blood:	n/a	chr19:39275112-39275121
28	GATA2	chr19:39274926-39275260	HUVEC	blood vessel:	n/a	chr19:39275112-39275121
29	GATA3	chr19:39274636-39275553	A549	lung:	n/a	chr19:39275112-39275121
30	GATA3	chr19:39274882-39275381	A549	lung:	n/a	chr19:39275112-39275121
31	JUN	chr19:39275061-39275274	HepG2	liver:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104
32	JUN	chr19:39274935-39275272	K562	blood:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104
33	JUN	chr19:39274682-39275479	K562	blood:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104
34	JUN	chr19:39274984-39275154	K562	blood:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104
35	JUND	chr19:39274926-39275295	K562	blood:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275093-39275104
36	JUND	chr19:39274988-39275290	HepG2	liver:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275093-39275104
37	JUND	chr19:39274979-39275214	HepG2	liver:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275093-39275104
38	JUND	chr19:39274981-39275232	HepG2	liver:	n/a	chr19:39275143-39275152 chr19:39275095-39275103 chr19:39275094-39275104 chr19:39275093-39275104
39	MYC	chr19:39277236-39277582	MCF10A-Er-Src	breast:	n/a	n/a
40	MYC	chr19:39277303-39277574	MCF10A-Er-Src	breast:	n/a	n/a
41	RCOR1	chr19:39275067-39275158	K562	blood:	n/a	n/a
42	STAT3	chr19:39277346-39277504	MCF10A-Er-Src	breast:	n/a	chr19:39277478-39277489
43	STAT3	chr19:39277288-39277465	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr19:39277308-39277438	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr19:39277230-39277529	MCF10A-Er-Src	breast:	n/a	chr19:39277478-39277489
46	ZNF384	chr19:39276712-39276967	K562	blood:	n/a	n/a
47	ZNF384	chr19:39274912-39275287	K562	blood:	n/a	n/a
48	ZNF384	chr19:39274253-39274671	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:39275124..39276670-chr19:39905372..39907606,2	K562	blood:
2	chr19:39277481..39279141-chr19:39336896..39339737,2	K562	blood:

Variant related genes	Relation type
LGALS7B	TF binding region
ENSG00000104824	chromatin interactions
ENSG00000090924	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113492526	chr19:39274253-39274254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559092850	chr19:39274257-39274258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529852682	chr19:39274270-39274271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62121412	chr19:39274276-39274277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs569438507	chr19:39274308-39274309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs974454	chr19:39274326-39274327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs55972716	chr19:39274426-39274427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201173241	chr19:39274429-39274430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552192759	chr19:39274460-39274461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570363856	chr19:39274473-39274474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369068434	chr19:39274516-39274517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535280064	chr19:39274545-39274546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558450528	chr19:39274584-39274585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553727636	chr19:39274625-39274626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187305795	chr19:39274629-39274630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192240678	chr19:39274678-39274679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536090606	chr19:39274754-39274755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113492377	chr19:39274867-39274868	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75324666	chr19:39274919-39274920	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs372988753	chr19:39274920-39274921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs575741941	chr19:39274932-39274933	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs545990495	chr19:39274947-39274948	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117453850	chr19:39274964-39274965	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs573178407	chr19:39275007-39275008	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs540891660	chr19:39275020-39275021	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs183007594	chr19:39275030-39275031	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs74583403	chr19:39275049-39275050	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs111828967	chr19:39275050-39275051	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs75741857	chr19:39275051-39275052	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs544118063	chr19:39275076-39275077	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs529814583	chr19:39275115-39275116	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs548026014	chr19:39275166-39275167	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201310496	chr19:39275223-39275224	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563226125	chr19:39275258-39275259	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs556320814	chr19:39275293-39275294	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs530589433	chr19:39275329-39275330	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs8100321	chr19:39275345-39275346	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs570401902	chr19:39275464-39275465	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs534337860	chr19:39275479-39275480	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547299316	chr19:39275487-39275488	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs568799242	chr19:39275509-39275510	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs188610407	chr19:39275512-39275513	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113496267	chr19:39275520-39275521	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs575751738	chr19:39275531-39275532	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539893782	chr19:39275549-39275550	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557986317	chr19:39275598-39275599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573172734	chr19:39275626-39275627	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540256392	chr19:39275629-39275630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559489634	chr19:39275639-39275640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574430868	chr19:39275695-39275696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Lung cancer	18438408	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
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39262200-39274800	Weak transcription	Fetal Intestine Large	intestine
2	chr19:39264800-39274800	Weak transcription	Fetal Intestine Small	intestine
3	chr19:39265600-39275800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:39265600-39283000	Weak transcription	Spleen	Spleen
5	chr19:39266600-39276400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:39269800-39277600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:39270000-39274600	Weak transcription	HepG2	liver
8	chr19:39272600-39275000	Weak transcription	A549	lung
9	chr19:39272600-39277400	Weak transcription	K562	blood
10	chr19:39274200-39279200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:39274600-39275600	Enhancers	HepG2	liver
12	chr19:39274600-39276200	Enhancers	Pancreas	Pancrea
13	chr19:39274800-39275200	Enhancers	Hela-S3	cervix
14	chr19:39274800-39275600	Enhancers	Fetal Intestine Small	intestine
15	chr19:39274800-39276200	Enhancers	Fetal Intestine Large	intestine
16	chr19:39275000-39275400	Flanking Active TSS	A549	lung
17	chr19:39275200-39275600	Enhancers	Stomach Mucosa	stomach
18	chr19:39275400-39277400	Weak transcription	A549	lung
19	chr19:39275600-39279000	Weak transcription	HepG2	liver
20	chr19:39275600-39279200	Weak transcription	Fetal Intestine Small	intestine
21	chr19:39275600-39279200	Weak transcription	Stomach Mucosa	stomach
22	chr19:39275800-39276000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:39276000-39276200	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:39276000-39277600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:39276200-39277400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:39276200-39279000	Weak transcription	Fetal Intestine Large	intestine
27	chr19:39276200-39283000	Weak transcription	Pancreas	Pancrea
28	chr19:39276400-39277600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:39276800-39278200	Enhancers	HMEC	breast
30	chr19:39277000-39277200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:39277000-39278000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:39277200-39277400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr19:39277200-39277400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:39277200-39277400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr19:39277200-39277600	Flanking Active TSS	NHEK	skin
36	chr19:39277200-39278000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr19:39277200-39283200	Weak transcription	NH-A	brain
38	chr19:39277400-39277600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr19:39277400-39277600	Enhancers	Fetal Muscle Leg	muscle
40	chr19:39277400-39277600	Enhancers	K562	blood
41	chr19:39277400-39277800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
42	chr19:39277400-39277800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:39277400-39277800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr19:39277400-39277800	Enhancers	Right Ventricle	heart
45	chr19:39277400-39277800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr19:39277400-39277800	Enhancers	A549	lung
47	chr19:39277400-39278000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:39277400-39278200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr19:39277600-39277800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:39277600-39277800	Enhancers	Placenta	Placenta

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