Variant report

Variant	esv3398009
Chromosome Location	chr19:51987240-51991538
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51988538..51991179-chr19:51992486..51994014,2	K562	blood:
2	chr19:51987100..51988663-chr19:51998123..52000541,2	K562	blood:
3	chr19:51983757..51987538-chr19:51991208..51993510,4	K562	blood:
4	chr19:51986815..51988404-chr19:52108752..52111601,2	K562	blood:
5	chr19:51987709..51989444-chr19:52010126..52012696,2	K562	blood:
6	chr19:51990431..51994051-chr19:51995384..51999380,3	K562	blood:
7	chr19:51983757..51987538-chr19:51991208..51993510,4	K562	blood:

Variant related genes	Relation type
ENSG00000269580	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141566245	chr19:51987309-51987310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111657078	chr19:51987334-51987335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150389623	chr19:51987396-51987397	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191969191	chr19:51987433-51987434	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55870623	chr19:51987455-51987456	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574034472	chr19:51987481-51987482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573408579	chr19:51987492-51987493	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537254229	chr19:51987512-51987513	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544994648	chr19:51987518-51987519	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62115074	chr19:51987520-51987521	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530454938	chr19:51987540-51987541	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62115075	chr19:51987546-51987547	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546695435	chr19:51987573-51987574	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77875230	chr19:51987575-51987576	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371120606	chr19:51987615-51987616	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375047887	chr19:51987621-51987622	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183885108	chr19:51987647-51987648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567293266	chr19:51987655-51987656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563727044	chr19:51987660-51987661	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111748930	chr19:51987701-51987702	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149637549	chr19:51987717-51987718	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567623546	chr19:51987720-51987721	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs35699132	chr19:51987760-51987761	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs528050126	chr19:51987790-51987791	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546205215	chr19:51987798-51987799	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs386810345	chr19:51987822-51987823	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62115077	chr19:51987823-51987824	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187846534	chr19:51987828-51987829	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535219613	chr19:51987835-51987836	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs568950470	chr19:51987847-51987848	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs114380202	chr19:51987910-51987911	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79303587	chr19:51987928-51987929	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79226814	chr19:51987936-51987937	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs75146085	chr19:51987937-51987938	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs75100739	chr19:51987940-51987941	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75963900	chr19:51987943-51987944	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78449924	chr19:51987954-51987955	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192326450	chr19:51987986-51987987	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs184448396	chr19:51988003-51988004	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187301394	chr19:51988020-51988021	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs34407829	chr19:51988022-51988023	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs73558846	chr19:51988046-51988047	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs192842668	chr19:51988074-51988075	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563812813	chr19:51988094-51988095	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10414127	chr19:51988104-51988105	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543229593	chr19:51988165-51988166	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561213367	chr19:51988251-51988252	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144361222	chr19:51988257-51988258	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs10414941	chr19:51988280-51988281	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs138954277	chr19:51988321-51988322	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	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
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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51984400-51988600	Strong transcription	Fetal Intestine Small	intestine
2	chr19:51984600-51998800	Weak transcription	Fetal Intestine Large	intestine
3	chr19:51985600-51989800	Strong transcription	Duodenum Mucosa	Duodenum
4	chr19:51988600-51993200	Weak transcription	Fetal Intestine Small	intestine
5	chr19:51989800-51998800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr19:51991200-51995800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:51991400-51995800	Weak transcription	Primary monocytes fromperipheralblood	blood

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