Variant report

Variant	esv3526444
Chromosome Location	chr19:56591450-56592073
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:56165388..56167305-chr19:56590662..56593656,2	MCF-7	breast:
2	chr19:56581337..56584331-chr19:56590956..56592904,2	K562	blood:
3	chr19:56587880..56589665-chr19:56591150..56593865,2	MCF-7	breast:
4	chr19:56591073..56592693-chr19:56682992..56683859,5	MCF-7	breast:
5	chr19:56591769..56592656-chrX:35929442..35930145,2	MCF-7	breast:
6	chr19:56591684..56592579-chr19:56763878..56764497,2	K562	blood:
7	chr19:56591703..56592615-chr19:56682968..56683865,3	K562	blood:
8	chr19:56589626..56592403-chr19:56608296..56610728,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000063244	chromatin interactions

Extended variants
information (count: 55 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369567490	chr19:56591450-56591451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547552759	chr19:56591462-56591463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570580957	chr19:56591470-56591471	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533757475	chr19:56591494-56591495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs28734134	chr19:56591503-56591504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76773825	chr19:56591537-56591538	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539488443	chr19:56591553-56591554	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530723598	chr19:56591554-56591555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79204182	chr19:56591572-56591573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373643382	chr19:56591577-56591578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199858188	chr19:56591578-56591579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576062764	chr19:56591623-56591624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs111442548	chr19:56591628-56591629	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56306931	chr19:56591643-56591644	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56236145	chr19:56591644-56591645	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs55647919	chr19:56591666-56591667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs55996428	chr19:56591669-56591670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555445096	chr19:56591670-56591671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56296242	chr19:56591672-56591673	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs576230880	chr19:56591675-56591676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564330434	chr19:56591685-56591686	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56058893	chr19:56591691-56591692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533010434	chr19:56591692-56591693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs55882948	chr19:56591697-56591698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541390953	chr19:56591738-56591739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547057949	chr19:56591754-56591755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558302783	chr19:56591760-56591761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578122080	chr19:56591761-56591762	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538463198	chr19:56591784-56591785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371378388	chr19:56591785-56591786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368386981	chr19:56591813-56591814	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113862781	chr19:56591835-56591836	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113679087	chr19:56591848-56591849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs56953904	chr19:56591882-56591883	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs113627512	chr19:56591904-56591905	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545822979	chr19:56591908-56591909	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2631643	chr19:56591917-56591918	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs535800597	chr19:56591921-56591922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543470736	chr19:56591922-56591923	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376029118	chr19:56591923-56591924	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs549406160	chr19:56591933-56591934	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112430653	chr19:56591948-56591949	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs513666	chr19:56591951-56591952	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569534552	chr19:56591968-56591969	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs113721908	chr19:56591973-56591974	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs113070863	chr19:56591986-56591987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs563443075	chr19:56591991-56591992	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200484370	chr19:56592019-56592020	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11882690	chr19:56592020-56592021	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529394267	chr19:56592046-56592047	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	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:105 , 50 per page) page: 1 2 3

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

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