Variant report

Variant	nsv960842
Chromosome Location	chr19:42188294-42190124
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	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:
2	chr19:42185660..42188707-chr19:42191136..42193889,3	K562	blood:

Variant related genes	Relation type
ENSG00000007306	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557711000	chr19:42188315-42188316	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35726337	chr19:42188317-42188318	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs16975479	chr19:42188327-42188328	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533644520	chr19:42188335-42188336	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554915695	chr19:42188376-42188377	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1860329	chr19:42188391-42188392	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543840430	chr19:42188439-42188440	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs138615055	chr19:42188548-42188549	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142800531	chr19:42188582-42188583	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546369092	chr19:42188589-42188590	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs183839446	chr19:42188595-42188596	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12459934	chr19:42188631-42188632	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540749067	chr19:42188635-42188636	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141269796	chr19:42188690-42188691	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs58537416	chr19:42188693-42188694	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs545375283	chr19:42188702-42188703	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35625323	chr19:42188711-42188712	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs550746612	chr19:42188721-42188722	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs533684628	chr19:42188722-42188723	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551761146	chr19:42188741-42188742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7251886	chr19:42188775-42188776	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs147387450	chr19:42188776-42188777	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs137984807	chr19:42188825-42188826	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566571859	chr19:42188831-42188832	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs1860330	chr19:42188832-42188833	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373638432	chr19:42188899-42188900	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143434422	chr19:42188911-42188912	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs117470042	chr19:42188913-42188914	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs537444091	chr19:42188936-42188937	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs190455156	chr19:42188942-42188943	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs4416132	chr19:42188968-42188969	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs1548720	chr19:42189031-42189032	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546179466	chr19:42189032-42189033	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1548721	chr19:42189062-42189063	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1548722	chr19:42189066-42189067	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1548723	chr19:42189127-42189128	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182712599	chr19:42189172-42189173	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73932004	chr19:42189201-42189202	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143851778	chr19:42189240-42189241	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562742500	chr19:42189243-42189244	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539741362	chr19:42189270-42189271	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs533229698	chr19:42189287-42189288	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs5828120	chr19:42189300-42189301	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs397797877	chr19:42189302-42189303	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551404835	chr19:42189312-42189313	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1548724	chr19:42189367-42189368	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs527463825	chr19:42189377-42189378	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs12609443	chr19:42189384-42189385	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs567010372	chr19:42189391-42189392	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs1001062	chr19:42189477-42189478	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:62)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	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	21858162	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
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42186400-42188400	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr19:42187800-42189600	Weak transcription	Colonic Mucosa	Colon
3	chr19:42188000-42192600	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr19:42189000-42192200	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr19:42189600-42192200	Active TSS	Colonic Mucosa	Colon

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