Variant report

Variant	esv3391504
Chromosome Location	chr19:54321790-54323988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534250243	chr19:54321812-54321813	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146823279	chr19:54321820-54321821	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559176637	chr19:54321842-54321843	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183763876	chr19:54321851-54321852	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189322734	chr19:54321867-54321868	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7258858	chr19:54321872-54321873	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377231440	chr19:54321889-54321890	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141223335	chr19:54321902-54321903	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181230825	chr19:54321912-54321913	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150876070	chr19:54321929-54321930	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10424405	chr19:54321933-54321934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114639540	chr19:54321954-54321955	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531411738	chr19:54321993-54321994	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73935989	chr19:54322010-54322011	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568156199	chr19:54322018-54322019	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528989997	chr19:54322053-54322054	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547069297	chr19:54322060-54322061	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118159945	chr19:54322073-54322074	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139383554	chr19:54322088-54322089	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs118002143	chr19:54322089-54322090	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74717483	chr19:54322115-54322116	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79514734	chr19:54322119-54322120	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78097396	chr19:54322136-54322137	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186477817	chr19:54322187-54322188	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144405159	chr19:54322205-54322206	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535978799	chr19:54322208-54322209	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554277240	chr19:54322210-54322211	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146624118	chr19:54322215-54322216	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546134573	chr19:54322257-54322258	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564322725	chr19:54322308-54322309	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576328879	chr19:54322321-54322322	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75630311	chr19:54322388-54322389	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7260563	chr19:54322404-54322405	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79549584	chr19:54322411-54322412	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529027102	chr19:54322460-54322461	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371273082	chr19:54322530-54322531	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566726194	chr19:54322551-54322552	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547106343	chr19:54322579-54322580	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558984093	chr19:54322617-54322618	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532767863	chr19:54322633-54322634	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370091600	chr19:54322665-54322666	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527606111	chr19:54322688-54322689	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370635794	chr19:54322703-54322704	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374034349	chr19:54322705-54322706	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367865035	chr19:54322707-54322708	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371923155	chr19:54322709-54322710	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8113298	chr19:54322711-54322712	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12985847	chr19:54322713-54322714	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200156327	chr19:54322739-54322740	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112491264	chr19:54322742-54322743	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	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
Lung cancer	19153074	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:54289600-54323000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr19:54293600-54323400	Weak transcription	Right Atrium	heart
3	chr19:54294800-54322000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:54296000-54322000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr19:54296000-54323000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr19:54302000-54327200	Weak transcription	Lung	lung
7	chr19:54313800-54327000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:54314000-54327400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:54314400-54327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:54314600-54327000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:54314600-54327000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:54318400-54327000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:54318400-54327000	Weak transcription	Spleen	Spleen
14	chr19:54318400-54327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr19:54318400-54327200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:54318800-54327200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:54319600-54323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:54321000-54323400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr19:54321200-54322400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr19:54321200-54327200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:54322000-54322400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr19:54322000-54323400	Genic enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:54322400-54326800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:54323000-54323600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:54323000-54323600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:54323000-54323600	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr19:54323400-54324200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr19:54323400-54324800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr19:54323600-54324400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr19:54323600-54327000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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