Variant report

Variant	esv3401861
Chromosome Location	chr19:56223944-56224420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56153424..56156443-chr19:56220513..56224838,3	K562	blood:
2	chr19:56214734..56218976-chr19:56219559..56224015,5	K562	blood:
3	chr19:56220865..56224676-chr19:56230629..56233910,4	K562	blood:
4	chr19:56207378..56209442-chr19:56222061..56224992,2	K562	blood:
5	chr19:56223858..56225860-chr19:56232350..56234424,2	MCF-7	breast:
6	chr19:56223391..56225546-chr19:56227295..56229501,3	K562	blood:
7	chr19:56223566..56226143-chr19:56226650..56230434,4	K562	blood:

Variant related genes	Relation type
ENSG00000267018	chromatin interactions
ENSG00000268593	chromatin interactions
ENSG00000267689	chromatin interactions
ENSG00000213015	chromatin interactions
ENSG00000171425	chromatin interactions
ENSG00000203305	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78753019	chr19:56223959-56223960	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs368327348	chr19:56223984-56223985	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs149940917	chr19:56223993-56223994	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs199476229	chr19:56223996-56223997	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs373955956	chr19:56224004-56224005	Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs118042108	chr19:56224039-56224040	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs540651713	chr19:56224051-56224052	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs532883666	chr19:56224062-56224063	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs368839464	chr19:56224065-56224066	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs537652864	chr19:56224070-56224071	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs563941008	chr19:56224073-56224074	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs188822938	chr19:56224076-56224077	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs192159048	chr19:56224085-56224086	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs566254656	chr19:56224097-56224098	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs528450516	chr19:56224106-56224107	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs113594793	chr19:56224112-56224113	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs551822783	chr19:56224130-56224131	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs374172562	chr19:56224131-56224132	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs537578723	chr19:56224143-56224144	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs556060137	chr19:56224157-56224158	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs569875947	chr19:56224164-56224165	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs201045769	chr19:56224168-56224169	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs535375163	chr19:56224172-56224173	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs555593465	chr19:56224180-56224181	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572010865	chr19:56224189-56224190	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs111379144	chr19:56224193-56224194	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs540595353	chr19:56224194-56224195	Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs140976970	chr19:56224211-56224212	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs184644764	chr19:56224229-56224230	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs189437310	chr19:56224242-56224243	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs201843478	chr19:56224243-56224244	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs550843868	chr19:56224278-56224279	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs557346631	chr19:56224284-56224285	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs577301904	chr19:56224286-56224287	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs62126978	chr19:56224320-56224321	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs558030826	chr19:56224325-56224326	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs578029757	chr19:56224326-56224327	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373159397	chr19:56224341-56224342	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs144031917	chr19:56224365-56224366	Weak transcription Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56212400-56224000	Weak transcription	HSMM	muscle
2	chr19:56215800-56228000	Weak transcription	Pancreas	Pancrea
3	chr19:56216400-56224400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:56224000-56224200	Flanking Active TSS	HSMM	muscle
5	chr19:56224200-56224400	Active TSS	HSMM	muscle
6	chr19:56224400-56224600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:56224400-56224600	Enhancers	HSMM	muscle

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