Variant report

Variant	esv3411256
Chromosome Location	chr19:56590590-56592938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56165388..56167305-chr19:56590662..56593656,2	MCF-7	breast:
2	chr19:56592228..56593017-chr19:56764764..56765328,2	K562	blood:
3	chr19:56587880..56589665-chr19:56591150..56593865,2	MCF-7	breast:
4	chr19:56589626..56592403-chr19:56608296..56610728,2	MCF-7	breast:
5	chr19:56581337..56584331-chr19:56590956..56592904,2	K562	blood:
6	chr19:56591073..56592693-chr19:56682992..56683859,5	MCF-7	breast:
7	chr19:56592253..56593839-chr19:56602016..56603722,2	K562	blood:
8	chr19:56591703..56592615-chr19:56682968..56683865,3	K562	blood:
9	chr19:56591684..56592579-chr19:56763878..56764497,2	K562	blood:
10	chr17:79369125..79369718-chr19:56590809..56591309,2	HCT-116	colon:
11	chr19:56591769..56592656-chrX:35929442..35930145,2	MCF-7	breast:
12	chr19:56587911..56589666-chr19:56592577..56594446,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000063244	chromatin interactions
ENSG00000263053	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146974573	chr19:56590611-56590612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561603362	chr19:56590617-56590618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138133640	chr19:56590635-56590636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553841487	chr19:56590643-56590644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143471133	chr19:56590648-56590649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562802220	chr19:56590659-56590660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147168187	chr19:56590660-56590661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373042611	chr19:56590708-56590709	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190547032	chr19:56590716-56590717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542566223	chr19:56590722-56590723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148230382	chr19:56590723-56590724	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs180950920	chr19:56590746-56590747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183660608	chr19:56590747-56590748	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141147640	chr19:56590759-56590760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188695210	chr19:56590762-56590763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550134052	chr19:56590768-56590769	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs569744261	chr19:56590770-56590771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs181430326	chr19:56590771-56590772	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112295439	chr19:56590790-56590791	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548093649	chr19:56590797-56590798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567874075	chr19:56590837-56590838	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150728364	chr19:56590867-56590868	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs533177373	chr19:56590869-56590870	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75073582	chr19:56590879-56590880	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs115440303	chr19:56590916-56590917	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs139393616	chr19:56590925-56590926	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs566655682	chr19:56590941-56590942	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs144534797	chr19:56590960-56590961	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs607774	chr19:56590981-56590982	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs542503505	chr19:56591088-56591089	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74513239	chr19:56591160-56591161	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114945454	chr19:56591183-56591184	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541605520	chr19:56591186-56591187	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374396495	chr19:56591187-56591188	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564560739	chr19:56591191-56591192	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533445607	chr19:56591213-56591214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531970045	chr19:56591235-56591236	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs550028347	chr19:56591250-56591251	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185670466	chr19:56591285-56591286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529258228	chr19:56591287-56591288	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs150249420	chr19:56591312-56591313	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs609132	chr19:56591330-56591331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568009378	chr19:56591332-56591333	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs74205441	chr19:56591336-56591337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370135129	chr19:56591338-56591339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs609168	chr19:56591357-56591358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12104131	chr19:56591365-56591366	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527388274	chr19:56591370-56591371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs66860616	chr19:56591371-56591372	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs375179503	chr19:56591381-56591382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56578200-56596800	Weak transcription	Gastric	stomach
2	chr19:56587800-56591200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:56588200-56591000	Weak transcription	Liver	Liver
4	chr19:56588200-56592000	Weak transcription	HepG2	liver
5	chr19:56588400-56592000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:56588400-56592000	Weak transcription	Right Ventricle	heart
7	chr19:56590800-56592000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr19:56590800-56593600	Enhancers	Spleen	Spleen
9	chr19:56591000-56591200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr19:56591000-56591800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:56591000-56592200	Enhancers	Liver	Liver
12	chr19:56591200-56591400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:56591200-56592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:56591800-56592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:56591800-56592000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:56591800-56592000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:56591800-56592000	Enhancers	Primary B cells from peripheral blood	blood
18	chr19:56591800-56592000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr19:56591800-56592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:56591800-56592000	Enhancers	Adipose Nuclei	Adipose
21	chr19:56592000-56592200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr19:56592000-56592200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:56592000-56592200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:56592000-56592200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:56592000-56592200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:56592000-56592200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr19:56592000-56592200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:56592000-56592200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr19:56592000-56592200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:56592000-56592200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:56592000-56592200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:56592000-56592200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:56592000-56592200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:56592000-56592200	Active TSS	Primary monocytes fromperipheralblood	blood
35	chr19:56592000-56592200	Enhancers	Primary T cells from cord blood	blood
36	chr19:56592000-56592200	Enhancers	Primary hematopoietic stem cells	blood
37	chr19:56592000-56592200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr19:56592000-56592200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:56592000-56592200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr19:56592000-56592200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:56592000-56592200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:56592000-56592200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr19:56592000-56592200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:56592000-56592200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr19:56592000-56592200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr19:56592000-56592200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:56592000-56592200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:56592000-56592200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:56592000-56592200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:56592000-56592200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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