Variant report

Variant	esv3318823
Chromosome Location	chr19:51106433-51109070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51105210..51106764-chr19:51296992..51298664,2	K562	blood:
2	chr19:51105143..51107316-chr19:51152690..51155316,2	K562	blood:
3	chr19:51108915..51112953-chr19:51162682..51166555,5	K562	blood:
4	chr19:51104377..51107028-chr19:51160247..51163970,4	K562	blood:
5	chr19:51103570..51107800-chr19:51108221..51112163,4	K562	blood:
6	chr19:51103969..51106972-chr19:51302826..51304990,3	K562	blood:
7	chr19:51103570..51107800-chr19:51108221..51112163,4	K562	blood:

Variant related genes	Relation type
ENSG00000161681	chromatin interactions
ENSG00000235034	chromatin interactions

Extended variants
information (count: 143 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541294946	chr19:51106453-51106454	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553139460	chr19:51106456-51106457	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371807632	chr19:51106468-51106469	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs577963985	chr19:51106478-51106479	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374644816	chr19:51106487-51106488	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs367952093	chr19:51106489-51106490	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139464247	chr19:51106490-51106491	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150272549	chr19:51106492-51106493	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371788909	chr19:51106493-51106494	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371823771	chr19:51106497-51106498	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566246663	chr19:51106511-51106512	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11410351	chr19:51106512-51106513	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182868238	chr19:51106517-51106518	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs397790097	chr19:51106524-51106525	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563597310	chr19:51106545-51106546	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575563863	chr19:51106552-51106553	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113259000	chr19:51106573-51106574	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188334918	chr19:51106585-51106586	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375142808	chr19:51106610-51106611	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369941660	chr19:51106627-51106628	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7253516	chr19:51106635-51106636	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs559588419	chr19:51106636-51106637	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533114737	chr19:51106694-51106695	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568966228	chr19:51106710-51106711	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7253426	chr19:51106738-51106739	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs548262173	chr19:51106762-51106763	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs11882253	chr19:51106778-51106779	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11879649	chr19:51106782-51106783	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7253669	chr19:51106803-51106804	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs552603376	chr19:51106927-51106928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577824016	chr19:51106934-51106935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538812356	chr19:51106947-51106948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs34287720	chr19:51106985-51106986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557392580	chr19:51106993-51106994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs575874019	chr19:51106998-51106999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542689840	chr19:51107063-51107064	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs112740063	chr19:51107090-51107091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189664615	chr19:51107190-51107191	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs2431823	chr19:51107234-51107235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs28578158	chr19:51107284-51107285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533179461	chr19:51107314-51107315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2431822	chr19:51107353-51107354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187749298	chr19:51107389-51107390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192666278	chr19:51107426-51107427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185729237	chr19:51107428-51107429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10421679	chr19:51107444-51107445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530820834	chr19:51107510-51107511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144875909	chr19:51107518-51107519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374245317	chr19:51107521-51107522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114494595	chr19:51107531-51107532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51105600-51106800	Enhancers	K562	blood
2	chr19:51106800-51109000	Weak transcription	K562	blood
3	chr19:51107800-51108000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
4	chr19:51107800-51109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:51109000-51109200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
6	chr19:51109000-51109200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr19:51109000-51109400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr19:51109000-51109400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:51109000-51109400	Enhancers	Brain Angular Gyrus	brain
10	chr19:51109000-51109400	Bivalent/Poised TSS	A549	lung
11	chr19:51109000-51109400	Flanking Active TSS	K562	blood
12	chr19:51109000-51109800	Active TSS	Brain Substantia Nigra	brain
13	chr19:51109000-51110800	Active TSS	Brain Anterior Caudate	brain
14	chr19:51109000-51110800	Enhancers	Brain Hippocampus Middle	brain

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