Variant report

Variant	esv3374785
Chromosome Location	chr19:41624912-41629210
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:123)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:41628056-41628084	H1-hESC	embryonic stem cell:	n/a	n/a
2	HEY1	chr19:41627636-41627840	K562	blood:	n/a	n/a
3	MAX	chr19:41627062-41627463	K562	blood:	n/a	chr19:41627257-41627266
4	MYC	chr19:41627234-41627283	K562	blood:	n/a	chr19:41627257-41627266
5	NR3C1	chr19:41626954-41627570	A549	lung:	n/a	chr19:41627542-41627555
6	NR3C1	chr19:41626999-41627610	A549	lung:	n/a	chr19:41627542-41627555
7	PBX3	chr19:41627123-41627243	GM12878	blood:	n/a	chr19:41627125-41627145
8	POLR2A	chr19:41627632-41627648	K562	blood:	n/a	n/a
9	POLR2A	chr19:41627393-41627582	K562	blood:	n/a	n/a
10	POLR2A	chr19:41627072-41627076	MCF-7	breast:	n/a	n/a
11	POLR2A	chr19:41626874-41626925	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:41627139-41627339	K562	blood:	n/a	n/a
13	POLR2A	chr19:41627822-41627860	K562	blood:	n/a	n/a
14	POLR2A	chr19:41626936-41627155	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:41626921-41627067	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:41626963-41627085	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:41627600-41627610	K562	blood:	n/a	n/a
18	POLR2A	chr19:41627108-41627323	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:41627675-41627810	K562	blood:	n/a	n/a
20	POLR2A	chr19:41627027-41627028	K562	blood:	n/a	n/a
21	POLR2A	chr19:41627077-41627082	MCF-7	breast:	n/a	n/a
22	POLR2A	chr19:41626865-41627013	K562	blood:	n/a	n/a
23	POLR2A	chr19:41627157-41627273	MCF-7	breast:	n/a	n/a
24	RUNX3	chr19:41627016-41627271	GM12878	blood:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41627236-41627286	SKMC	muscle:	n/a
2	chr19:41627236-41627286	SKMC	muscle:	n/a
3	chr19:41627236-41627286	H1-hESC	embryonic stem cell:	embryo
4	chr19:41627236-41627286	BE2_C	brain:	n/a
5	chr19:41627236-41627286	PFSK-1	brain:	n/a
6	chr19:41629018-41629068	Caco-2	colon:	n/a
7	chr19:41627236-41627286	ECC-1	luminal epithelium:	n/a
8	chr19:41627236-41627286	Hela-S3	cervix:	n/a
9	chr19:41629018-41629068	Jurkat	blood:	n/a
10	chr19:41629018-41629068	Hepatocyte	liver:	n/a
11	chr19:41629018-41629068	MCF-7	breast:	n/a
12	chr19:41629018-41629068	HepG2	liver:	n/a
13	chr19:41627236-41627286	MCF10A-Er-Src	breast:	n/a
14	chr19:41629018-41629068	NHBE	bronchial:	n/a
15	chr19:41629018-41629068	A549	lung:	n/a
16	chr19:41629018-41629068	ECC-1	luminal epithelium:	n/a
17	chr19:41629018-41629068	HEK293	kidney:	embryo
18	chr19:41629018-41629068	HCT-116	colon:	n/a
19	chr19:41629018-41629068	HCF	heart:	n/a
20	chr19:41627236-41627286	HL-60	blood:	n/a
21	chr19:41627236-41627286	GM12878	blood:	n/a
22	chr19:41627236-41627286	NHDF-neo	bronchial:	n/a
23	chr19:41627236-41627286	BJ	skin:	n/a
24	chr19:41629018-41629068	PrEC	prostate:	n/a
25	chr19:41627236-41627286	HCT-116	colon:	n/a
26	chr19:41629018-41629068	ProgFib	skin:	n/a
27	chr19:41627236-41627286	GM12891	blood:	n/a
28	chr19:41627236-41627286	AG09319	gingival:	n/a
29	chr19:41627236-41627286	U87	brain:	n/a
30	chr19:41629018-41629068	NH-A	brain:	n/a
31	chr19:41629018-41629068	GM06990	blood:	n/a
32	chr19:41627236-41627286	NB4	blood:	n/a
33	chr19:41627236-41627286	HAEpiC	amniotic membrane:	n/a
34	chr19:41627236-41627286	HEK293	kidney:	embryo
35	chr19:41629018-41629068	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:41627236-41627286	Hepatocyte	liver:	n/a
37	chr19:41627236-41627286	HNPCEpiC	eye:	n/a
38	chr19:41627236-41627286	AG10803	skin:	n/a
39	chr19:41629018-41629068	NHDF-neo	bronchial:	n/a
40	chr19:41627236-41627286	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:41627236-41627286	HCPEpiC	choroid plexus:	n/a
42	chr19:41629018-41629068	HUVEC	blood vessel:	n/a
43	chr19:41629018-41629068	AG10803	skin:	n/a
44	chr19:41627236-41627286	MCF-7	breast:	n/a
45	chr19:41627236-41627286	SK-N-SH_RA	brain:	n/a
46	chr19:41629018-41629068	HEEpiC	esophagus:	n/a
47	chr19:41627236-41627286	GM19239	blood:	n/a
48	chr19:41629018-41629068	NT2-D1	testis:	n/a
49	chr19:41627236-41627286	HIPEpiC	eye:	n/a
50	chr19:41627236-41627286	NHBE	bronchial:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41621979..41624352-chr19:41625905..41628342,2	K562	blood:
2	chr19:41622398..41625038-chr19:41628718..41631460,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP2A7P1-2	chr19:41626672-41627570	NONHSAT066433

No data

Variant related genes	Relation type
CYP2F1	TF binding region
CYP2F1	CpG island
ENSG00000197446	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112842945	chr19:41624921-41624922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556667391	chr19:41624935-41624936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs575337218	chr19:41624976-41624977	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558125924	chr19:41625000-41625001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75520282	chr19:41625088-41625089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28467471	chr19:41625134-41625135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149221994	chr19:41625142-41625143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552745700	chr19:41625145-41625146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574493997	chr19:41625169-41625170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145099431	chr19:41625202-41625203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561561871	chr19:41625246-41625247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576786424	chr19:41625281-41625282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12462215	chr19:41625283-41625284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565270918	chr19:41625284-41625285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532511518	chr19:41625317-41625318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547775159	chr19:41625323-41625324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184613379	chr19:41625346-41625347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140610464	chr19:41625378-41625379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145737708	chr19:41625379-41625380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536937026	chr19:41625380-41625381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573058268	chr19:41625393-41625394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540538120	chr19:41625394-41625395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531110355	chr19:41625449-41625450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377717216	chr19:41625454-41625455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190364576	chr19:41625459-41625460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551210947	chr19:41625513-41625514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148116588	chr19:41625526-41625527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543196464	chr19:41625619-41625620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372243435	chr19:41625621-41625622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76622906	chr19:41625626-41625627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10853747	chr19:41625628-41625629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560481258	chr19:41625651-41625652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12973263	chr19:41625653-41625654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147688839	chr19:41625654-41625655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200830625	chr19:41625655-41625656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192829030	chr19:41625707-41625708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56973556	chr19:41625722-41625723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141816546	chr19:41625768-41625769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11671791	chr19:41625769-41625770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554859516	chr19:41625771-41625772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184982769	chr19:41625777-41625778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576753738	chr19:41625782-41625783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544042140	chr19:41625879-41625880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559251468	chr19:41625898-41625899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150199114	chr19:41625977-41625978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541033795	chr19:41626000-41626001	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs559731215	chr19:41626003-41626004	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs530117423	chr19:41626010-41626011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs189394152	chr19:41626081-41626082	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs138627154	chr19:41626097-41626098	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41620600-41627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:41622600-41627000	Weak transcription	Pancreas	Pancrea
3	chr19:41624800-41625200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:41624800-41625200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr19:41624800-41626400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr19:41624800-41628000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr19:41625200-41625600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:41625200-41625600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:41625600-41626200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr19:41625600-41629200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:41625800-41627000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:41625800-41627400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr19:41625800-41627400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr19:41625800-41627600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:41625800-41627600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr19:41626000-41626200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr19:41626000-41627000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr19:41626000-41627400	Enhancers	Primary T cells from cord blood	blood
19	chr19:41626000-41627400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:41626000-41627400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:41626200-41626800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr19:41626200-41627600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:41626400-41627200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr19:41626400-41627600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:41626400-41627600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr19:41626600-41627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:41626600-41627600	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:41626800-41627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:41626800-41628000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr19:41627000-41627200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr19:41627000-41627200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:41627000-41627200	Enhancers	Esophagus	oesophagus
33	chr19:41627000-41627200	ZNF genes & repeats	Pancreas	Pancrea
34	chr19:41627000-41627400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:41627000-41627400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr19:41627000-41627400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr19:41627000-41627400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr19:41627000-41627400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:41627000-41627400	Enhancers	Duodenum Mucosa	Duodenum
40	chr19:41627000-41627400	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr19:41627000-41627400	Flanking Active TSS	K562	blood
42	chr19:41627000-41627600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr19:41627200-41627400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:41627200-41628800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:41627200-41630400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:41627200-41633800	Weak transcription	Esophagus	oesophagus
47	chr19:41627200-41634000	Weak transcription	Pancreas	Pancrea
48	chr19:41627400-41627600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:41627400-41627600	Active TSS	K562	blood
50	chr19:41627400-41628000	Enhancers	Primary T helper cells PMA-I stimulated	--

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