Variant report

Variant	nsv828510
Chromosome Location	chr19:23218487-23222278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574799492	chr19:23218550-23218551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534661607	chr19:23218551-23218552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537323905	chr19:23218552-23218553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372951276	chr19:23218554-23218555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536810040	chr19:23218556-23218557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537388776	chr19:23218598-23218599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368928001	chr19:23218644-23218645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73555435	chr19:23218671-23218672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534611329	chr19:23218836-23218837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192024430	chr19:23218842-23218843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577262500	chr19:23218844-23218845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575639936	chr19:23218846-23218847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563205853	chr19:23218883-23218884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575321158	chr19:23218935-23218936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118098738	chr19:23218945-23218946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561477440	chr19:23218951-23218952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528787669	chr19:23218983-23218984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547364302	chr19:23219032-23219033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143429547	chr19:23219057-23219058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184842578	chr19:23219069-23219070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544643822	chr19:23219089-23219090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187744543	chr19:23219147-23219148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569223468	chr19:23219209-23219210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536751775	chr19:23219212-23219213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548863318	chr19:23219226-23219227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77708251	chr19:23219233-23219234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377444654	chr19:23219242-23219243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10424608	chr19:23219275-23219276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552886142	chr19:23219385-23219386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138569316	chr19:23219451-23219452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538229706	chr19:23219454-23219455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554829228	chr19:23219493-23219494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192716590	chr19:23219522-23219523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575209851	chr19:23219557-23219558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542748641	chr19:23219570-23219571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184134905	chr19:23219583-23219584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564684536	chr19:23219598-23219599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144088259	chr19:23219664-23219665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540912352	chr19:23219830-23219831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374358488	chr19:23219835-23219836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115790550	chr19:23219848-23219849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56025038	chr19:23219851-23219852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72540857	chr19:23219907-23219908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11458122	chr19:23219908-23219909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs67834525	chr19:23219909-23219910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562907989	chr19:23219989-23219990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370910439	chr19:23220027-23220028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147312388	chr19:23220036-23220037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572949899	chr19:23220059-23220060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115410349	chr19:23220072-23220073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23217800-23218800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:23218000-23218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:23218800-23219000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:23218800-23219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:23219000-23222000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:23219200-23220200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:23220200-23220400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:23220200-23221400	Enhancers	Fetal Heart	heart
9	chr19:23220400-23220800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:23220800-23221200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:23222000-23222400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links