Variant report

Variant	esv3318250
Chromosome Location	chr19:56866360-56869962
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56861231..56863974-chr19:56864374..56866865,3	K562	blood:
2	chr19:56861231..56864651-chr19:56864910..56868187,3	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117644600	chr19:56866383-56866384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190742408	chr19:56866458-56866459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374145545	chr19:56866459-56866460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578194521	chr19:56866516-56866517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182028708	chr19:56866524-56866525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111281083	chr19:56866563-56866564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577635125	chr19:56866578-56866579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12972622	chr19:56866582-56866583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368007047	chr19:56866613-56866614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574233631	chr19:56866653-56866654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149016060	chr19:56866738-56866739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556895419	chr19:56866816-56866817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573602152	chr19:56866844-56866845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185367234	chr19:56866850-56866851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559571930	chr19:56866904-56866905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144381290	chr19:56866933-56866934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115187695	chr19:56866945-56866946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549582162	chr19:56866953-56866954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146621034	chr19:56866995-56866996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376236123	chr19:56867016-56867017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550838686	chr19:56867030-56867031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561328786	chr19:56867047-56867048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530078671	chr19:56867111-56867112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547022250	chr19:56867179-56867180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565954028	chr19:56867230-56867231	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs189729517	chr19:56867245-56867246	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570638736	chr19:56867265-56867266	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571381607	chr19:56867310-56867311	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182679073	chr19:56867338-56867339	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs556740911	chr19:56867368-56867369	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571691072	chr19:56867422-56867423	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs573684076	chr19:56867432-56867433	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535815834	chr19:56867527-56867528	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552564529	chr19:56867530-56867531	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573182231	chr19:56867531-56867532	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs545320704	chr19:56867532-56867533	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565470420	chr19:56867535-56867536	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575786223	chr19:56867584-56867585	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs185533188	chr19:56867590-56867591	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs561181646	chr19:56867629-56867630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543342864	chr19:56867645-56867646	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530241148	chr19:56867667-56867668	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546984834	chr19:56867687-56867688	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561521218	chr19:56867693-56867694	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113245695	chr19:56867717-56867718	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs527292879	chr19:56867721-56867722	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528374526	chr19:56867743-56867744	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10424676	chr19:56867745-56867746	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571411395	chr19:56867746-56867747	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536798376	chr19:56867773-56867774	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56855000-56870200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr19:56859400-56872800	Weak transcription	Ovary	ovary
3	chr19:56862000-56868400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:56862400-56866400	Weak transcription	Right Atrium	heart
5	chr19:56863000-56872800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:56865800-56867200	Enhancers	Liver	Liver
7	chr19:56865800-56867200	Enhancers	HepG2	liver
8	chr19:56866200-56871000	Weak transcription	Primary T cells from cord blood	blood
9	chr19:56866800-56867600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:56867200-56867600	Flanking Active TSS	HepG2	liver
11	chr19:56867200-56867800	Flanking Active TSS	Liver	Liver
12	chr19:56867600-56867800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:56867600-56868400	Enhancers	HepG2	liver
14	chr19:56867800-56868000	Enhancers	Liver	Liver
15	chr19:56868400-56868800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:56869400-56872400	Weak transcription	Left Ventricle	heart

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