Variant report

Variant	nsv458730
Chromosome Location	chr19:52127744-52131119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52127522..52129415-chr19:52131096..52132777,2	K562	blood:
2	chr19:51620285..51621823-chr19:52126371..52128453,2	K562	blood:
3	chr19:52127522..52129415-chr19:52131096..52132777,2	K562	blood:
4	chr19:52117245..52119688-chr19:52127612..52129163,2	K562	blood:

Extended variants
information (count: 192 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10414149	chr19:52127744-52127745	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs10414347	chr19:52127777-52127778	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563010766	chr19:52127788-52127789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574972726	chr19:52127816-52127817	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542087408	chr19:52127838-52127839	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180809995	chr19:52127849-52127850	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527945793	chr19:52127874-52127875	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546110965	chr19:52127896-52127897	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186493368	chr19:52127903-52127904	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138574388	chr19:52127948-52127949	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6509558	chr19:52127949-52127950	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567840189	chr19:52127950-52127951	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529066015	chr19:52127967-52127968	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547239864	chr19:52128001-52128002	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144080278	chr19:52128050-52128051	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189366444	chr19:52128066-52128067	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558092508	chr19:52128084-52128085	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113117608	chr19:52128115-52128116	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538289176	chr19:52128159-52128160	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556673227	chr19:52128166-52128167	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577045414	chr19:52128174-52128175	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537908504	chr19:52128181-52128182	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556008965	chr19:52128185-52128186	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139267979	chr19:52128203-52128204	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112684760	chr19:52128211-52128212	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554045981	chr19:52128212-52128213	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs63372662	chr19:52128218-52128219	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs398035003	chr19:52128224-52128225	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200453897	chr19:52128225-52128226	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150538751	chr19:52128262-52128263	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8110578	chr19:52128338-52128339	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs564483490	chr19:52128363-52128364	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531207199	chr19:52128488-52128489	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77375890	chr19:52128509-52128510	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73050886	chr19:52128522-52128523	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574843897	chr19:52128523-52128524	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565696288	chr19:52128532-52128533	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533202248	chr19:52128548-52128549	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551697689	chr19:52128569-52128570	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368250712	chr19:52128580-52128581	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12611093	chr19:52128596-52128597	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372527369	chr19:52128627-52128628	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573198333	chr19:52128785-52128786	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11084096	chr19:52128795-52128796	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs568464198	chr19:52128805-52128806	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10421678	chr19:52128808-52128809	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554252103	chr19:52128816-52128817	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369802739	chr19:52128857-52128858	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181616786	chr19:52128858-52128859	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546037227	chr19:52128875-52128876	Strong transcription Transcr. at gene 5' and 3' Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52116600-52130200	Weak transcription	Spleen	Spleen
2	chr19:52119400-52128200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr19:52124200-52130800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:52125000-52128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:52125000-52133600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr19:52125200-52130800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52125800-52129200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr19:52125800-52129800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr19:52126000-52129200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr19:52126200-52128200	Weak transcription	Primary B cells from cord blood	blood
11	chr19:52126600-52129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr19:52126800-52127800	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr19:52127200-52129800	Weak transcription	GM12878-XiMat	blood
14	chr19:52127800-52132400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
15	chr19:52128200-52128400	Strong transcription	Primary B cells from cord blood	blood
16	chr19:52128200-52128800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:52128200-52131000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:52128400-52128600	Genic enhancers	Primary B cells from cord blood	blood
19	chr19:52128600-52129200	Strong transcription	Primary B cells from cord blood	blood
20	chr19:52128800-52133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:52129200-52129600	Genic enhancers	Primary B cells from cord blood	blood
22	chr19:52129200-52130400	Genic enhancers	Monocytes-CD14+_RO01746	blood
23	chr19:52129200-52131400	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr19:52129600-52130200	Enhancers	Primary B cells from cord blood	blood
25	chr19:52129800-52130600	Enhancers	GM12878-XiMat	blood
26	chr19:52129800-52132400	Genic enhancers	Primary B cells from peripheral blood	blood
27	chr19:52129800-52132400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr19:52130200-52130600	Active TSS	Primary B cells from cord blood	blood
29	chr19:52130200-52131400	Strong transcription	Spleen	Spleen
30	chr19:52130200-52132400	Weak transcription	Right Atrium	heart
31	chr19:52130400-52132400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
32	chr19:52130400-52132600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:52130600-52131000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:52130600-52131400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:52130600-52131400	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr19:52130600-52131800	Weak transcription	GM12878-XiMat	blood
37	chr19:52130800-52131400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr19:52130800-52132400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:52130800-52133200	Weak transcription	Gastric	stomach
40	chr19:52131000-52133800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:52131000-52134000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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