Variant report

Variant	nsv960877
Chromosome Location	chr19:56701471-56704333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536136249	chr19:56701476-56701477	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370368173	chr19:56701477-56701478	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs202218504	chr19:56701488-56701489	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377383565	chr19:56701489-56701490	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370425792	chr19:56701490-56701491	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376043891	chr19:56701497-56701498	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368461762	chr19:56701498-56701499	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534584381	chr19:56701513-56701514	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371555338	chr19:56701553-56701554	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189564920	chr19:56701571-56701572	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61738499	chr19:56701578-56701579	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558592538	chr19:56701596-56701597	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373469763	chr19:56701609-56701610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537974249	chr19:56701610-56701611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377366357	chr19:56701616-56701617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370054206	chr19:56701620-56701621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373817287	chr19:56701625-56701626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200185124	chr19:56701626-56701627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150688455	chr19:56701631-56701632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370948217	chr19:56701637-56701638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201048831	chr19:56701647-56701648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192204188	chr19:56701649-56701650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184226738	chr19:56701652-56701653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200285996	chr19:56701660-56701661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367587385	chr19:56701664-56701665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201658700	chr19:56701665-56701666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577337778	chr19:56701671-56701672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200898843	chr19:56701679-56701680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201080393	chr19:56701686-56701687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372588974	chr19:56701712-56701713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200312845	chr19:56701724-56701725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368088200	chr19:56701730-56701731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138952005	chr19:56701754-56701755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376623371	chr19:56701755-56701756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561737213	chr19:56701759-56701760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527687405	chr19:56701766-56701767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs892183	chr19:56701774-56701775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs892184	chr19:56701778-56701779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538794260	chr19:56701781-56701782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376632539	chr19:56701789-56701790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200350099	chr19:56701792-56701793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61742626	chr19:56701801-56701802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537939197	chr19:56701802-56701803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61742631	chr19:56701817-56701818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373709117	chr19:56701818-56701819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61742633	chr19:56701824-56701825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370488746	chr19:56701825-56701826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61742634	chr19:56701827-56701828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375696908	chr19:56701830-56701831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370255759	chr19:56701832-56701833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56688600-56702400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:56701000-56701600	Enhancers	K562	blood
3	chr19:56701200-56701600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:56702400-56702800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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