Variant report

Variant	esv1832823
Chromosome Location	chr19:41382647-41387161
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:245)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:41386434-41386449	K562	blood:	n/a	n/a
2	CTCF	chr19:41383928-41383999	LNCaP	prostate:	n/a	n/a
3	CTCF	chr19:41386284-41386617	K562	blood:	n/a	n/a
4	CTCF	chr19:41386211-41386665	K562	blood:	n/a	n/a
5	CTCF	chr19:41386320-41386470	HEK293	kidney:	n/a	n/a
6	CTCF	chr19:41386233-41386588	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr19:41386288-41386587	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr19:41386384-41386566	K562	blood:	n/a	n/a
9	CTCF	chr19:41386312-41386552	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr19:41386301-41386581	K562	blood:	n/a	n/a
11	MAX	chr19:41386259-41386608	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:41386101-41386269	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:41386159-41386584	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:41386273-41386431	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr19:41386373-41386596	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr19:41386283-41386608	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr19:41386294-41386634	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr19:41386302-41386499	K562	blood:	n/a	n/a
19	SPI1	chr19:41382447-41383024	HL-60	blood:	n/a	chr19:41382745-41382754 chr19:41382665-41382678 chr19:41382743-41382756 chr19:41382742-41382755 chr19:41382581-41382594 chr19:41382667-41382676
20	SPI1	chr19:41382531-41382794	K562	blood:	n/a	chr19:41382745-41382754 chr19:41382665-41382678 chr19:41382743-41382756 chr19:41382742-41382755 chr19:41382581-41382594 chr19:41382667-41382676
21	SPI1	chr19:41382607-41382937	HL-60	blood:	n/a	chr19:41382745-41382754 chr19:41382665-41382678 chr19:41382743-41382756 chr19:41382742-41382755 chr19:41382667-41382676
22	SPI1	chr19:41382543-41382731	GM12878	blood:	n/a	chr19:41382665-41382678 chr19:41382581-41382594 chr19:41382667-41382676
23	ZNF263	chr19:41384603-41384719	HEK293-T-REx	kidney:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41383654-41383704	SKMC	muscle:	n/a
2	chr19:41383654-41383704	SKMC	muscle:	n/a
3	chr19:41385865-41385915	NB4	blood:	n/a
4	chr19:41383654-41383704	HRCEpiC	kidney:	n/a
5	chr19:41386507-41386557	K562	blood:	n/a
6	chr19:41385865-41385915	GM12892	blood:	n/a
7	chr19:41386507-41386557	HL-60	blood:	n/a
8	chr19:41386441-41386491	H1-hESC	embryonic stem cell:	embryo
9	chr19:41385865-41385915	K562	blood:	n/a
10	chr19:41386507-41386557	ovcar-3	ovarian:	n/a
11	chr19:41386507-41386557	AoSMC	blood vessel:	n/a
12	chr19:41385865-41385915	NHBE	bronchial:	n/a
13	chr19:41386507-41386557	HAEpiC	amniotic membrane:	n/a
14	chr19:41386507-41386557	HUVEC	blood vessel:	n/a
15	chr19:41386507-41386557	Hepatocyte	liver:	n/a
16	chr19:41386507-41386557	AG04449	skin:	fetal
17	chr19:41386441-41386491	Caco-2	colon:	n/a
18	chr19:41385865-41385915	SK-N-SH_RA	brain:	n/a
19	chr19:41386441-41386491	ovcar-3	ovarian:	n/a
20	chr19:41385865-41385915	BE2_C	brain:	n/a
21	chr19:41385865-41385915	ECC-1	luminal epithelium:	n/a
22	chr19:41386507-41386557	LNCaP	prostate:	n/a
23	chr19:41383654-41383704	PrEC	prostate:	n/a
24	chr19:41386507-41386557	NT2-D1	testis:	n/a
25	chr19:41386441-41386491	GM06990	blood:	n/a
26	chr19:41386507-41386557	IMR90	lung:	fetal
27	chr19:41386441-41386491	NHDF-neo	bronchial:	n/a
28	chr19:41386507-41386557	ECC-1	luminal epithelium:	n/a
29	chr19:41386441-41386491	HEEpiC	esophagus:	n/a
30	chr19:41383654-41383704	Hepatocyte	liver:	n/a
31	chr19:41385865-41385915	HRCEpiC	kidney:	n/a
32	chr19:41383654-41383704	SK-N-SH_RA	brain:	n/a
33	chr19:41386441-41386491	HepG2	liver:	n/a
34	chr19:41386441-41386491	NT2-D1	testis:	n/a
35	chr19:41386441-41386491	K562	blood:	n/a
36	chr19:41386441-41386491	BE2_C	brain:	n/a
37	chr19:41383654-41383704	RPTEC	kidney:	n/a
38	chr19:41386507-41386557	SKMC	muscle:	n/a
39	chr19:41386441-41386491	ECC-1	luminal epithelium:	n/a
40	chr19:41385865-41385915	Caco-2	colon:	n/a
41	chr19:41383654-41383704	HCF	heart:	n/a
42	chr19:41386441-41386491	HUVEC	blood vessel:	n/a
43	chr19:41383654-41383704	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:41386507-41386557	GM06990	blood:	n/a
45	chr19:41386507-41386557	T-47D	breast:	n/a
46	chr19:41386507-41386557	HMEC	breast:	n/a
47	chr19:41383654-41383704	ECC-1	luminal epithelium:	n/a
48	chr19:41386507-41386557	PrEC	prostate:	n/a
49	chr19:41385865-41385915	MCF-7	breast:	n/a
50	chr19:41386441-41386491	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
CYP2A7	TF binding region
CYP2A7	CpG island

Extended variants
information (count: 370 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386809293	chr19:41382653-41382654	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2316210	chr19:41382655-41382656	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs3852869	chr19:41382665-41382666	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181164993	chr19:41382669-41382670	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs555497023	chr19:41382703-41382704	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs574144390	chr19:41382707-41382708	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544724512	chr19:41382790-41382791	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs186027879	chr19:41382812-41382813	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577912716	chr19:41382814-41382815	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs190882898	chr19:41382846-41382847	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs560381718	chr19:41382867-41382868	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs527619499	chr19:41382873-41382874	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs74493998	chr19:41382895-41382896	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs546874214	chr19:41382896-41382897	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs183262865	chr19:41382912-41382913	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs545767510	chr19:41382917-41382918	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs531265866	chr19:41382929-41382930	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs148590369	chr19:41382962-41382963	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549461128	chr19:41382997-41382998	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs78581797	chr19:41383022-41383023	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs75008687	chr19:41383023-41383024	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs564678625	chr19:41383025-41383026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533333118	chr19:41383029-41383030	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551714069	chr19:41383030-41383031	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567123194	chr19:41383035-41383036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534239518	chr19:41383051-41383052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28575771	chr19:41383054-41383055	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs199686117	chr19:41383063-41383064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367692191	chr19:41383066-41383067	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371878606	chr19:41383071-41383072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538291574	chr19:41383085-41383086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187948449	chr19:41383086-41383087	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375379675	chr19:41383091-41383092	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190860163	chr19:41383095-41383096	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201635953	chr19:41383105-41383106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111390860	chr19:41383115-41383116	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550701486	chr19:41383122-41383123	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147847954	chr19:41383134-41383135	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148915421	chr19:41383137-41383138	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73553091	chr19:41383141-41383142	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs151290022	chr19:41383142-41383143	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200892263	chr19:41383147-41383148	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141245741	chr19:41383148-41383149	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2261144	chr19:41383153-41383154	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147570552	chr19:41383163-41383164	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141946981	chr19:41383164-41383165	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150178247	chr19:41383171-41383172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373511031	chr19:41383172-41383173	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138643382	chr19:41383173-41383174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551916007	chr19:41383174-41383175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41381600-41383200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr19:41381800-41383000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:41381800-41383200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:41382000-41382800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr19:41382200-41382800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:41382200-41383000	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:41382200-41383200	Strong transcription	Liver	Liver
8	chr19:41382600-41383200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:41382600-41384400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:41382600-41386200	Weak transcription	Lung	lung
11	chr19:41383200-41387000	Weak transcription	Liver	Liver
12	chr19:41384400-41384800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:41385600-41386000	Weak transcription	Ovary	ovary
14	chr19:41386000-41386200	Enhancers	Ovary	ovary
15	chr19:41386200-41386400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr19:41386200-41386600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr19:41386200-41386600	Enhancers	Lung	lung
18	chr19:41386200-41386600	Flanking Active TSS	Ovary	ovary
19	chr19:41386400-41386600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:41386400-41386600	Enhancers	Adipose Nuclei	Adipose
21	chr19:41386400-41386600	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr19:41386400-41386600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:41386400-41387000	Bivalent Enhancer	Fetal Intestine Large	intestine
24	chr19:41386600-41387800	Weak transcription	Lung	lung
25	chr19:41386800-41387000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:41387000-41387200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr19:41387000-41388400	Enhancers	Fetal Intestine Large	intestine
28	chr19:41387000-41389800	Enhancers	Liver	Liver

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