Variant report

Variant	nsv960813
Chromosome Location	chr19:22704948-22710392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF98-2	chr19:22704753-22704995	ENSG00000260599.1
2	lnc-ZNF98-2	chr19:22706355-22706435	ENSG00000260599.1
3	lnc-ZNF98-2	chr19:22707423-22707539	ENSG00000260599.1
4	lnc-ZNF98-2	chr19:22708110-22710751	ENSG00000260599.1

Extended variants
information (count: 254 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577896063	chr19:22704973-22704974	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545307146	chr19:22704976-22704977	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs563871683	chr19:22704978-22704979	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576081896	chr19:22704998-22704999	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543461600	chr19:22705015-22705016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561678743	chr19:22705025-22705026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148726848	chr19:22705049-22705050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553727280	chr19:22705114-22705115	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541002495	chr19:22705120-22705121	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3885250	chr19:22705130-22705131	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533218063	chr19:22705135-22705136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551308596	chr19:22705144-22705145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs3853661	chr19:22705145-22705146	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530916772	chr19:22705175-22705176	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184274511	chr19:22705176-22705177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3929098	chr19:22705196-22705197	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534727494	chr19:22705232-22705233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549754442	chr19:22705237-22705238	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3929099	chr19:22705248-22705249	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4369796	chr19:22705253-22705254	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs142262750	chr19:22705258-22705259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575755022	chr19:22705263-22705264	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3853662	chr19:22705273-22705274	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs555526632	chr19:22705283-22705284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140617916	chr19:22705325-22705326	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144464178	chr19:22705359-22705360	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528836474	chr19:22705394-22705395	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188615250	chr19:22705402-22705403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57901412	chr19:22705428-22705429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs56788243	chr19:22705431-22705432	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs149913555	chr19:22705440-22705441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373535655	chr19:22705449-22705450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144935452	chr19:22705456-22705457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149051724	chr19:22705479-22705480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7246503	chr19:22705495-22705496	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs546611223	chr19:22705513-22705514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571573657	chr19:22705533-22705534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1216106	chr19:22705548-22705549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs535881039	chr19:22705553-22705554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369668386	chr19:22705566-22705567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557678584	chr19:22705567-22705568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569449962	chr19:22705570-22705571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113872810	chr19:22705595-22705596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114600279	chr19:22705613-22705614	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34189855	chr19:22705616-22705617	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573798519	chr19:22705670-22705671	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35510311	chr19:22705685-22705686	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541080058	chr19:22705687-22705688	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115513331	chr19:22705688-22705689	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577606642	chr19:22705774-22705775	Weak transcription ZNF genes & repeats Enhancers	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22701200-22709400	Weak transcription	Aorta	Aorta
2	chr19:22702600-22709400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:22703200-22707200	Enhancers	Pancreas	Pancrea
4	chr19:22703400-22705400	Strong transcription	Ovary	ovary
5	chr19:22705400-22705600	Weak transcription	Ovary	ovary
6	chr19:22705600-22706600	ZNF genes & repeats	Ovary	ovary
7	chr19:22706400-22707200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:22706600-22707200	Genic enhancers	Ovary	ovary
9	chr19:22707000-22708800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr19:22707200-22708000	Weak transcription	Ovary	ovary
11	chr19:22707200-22708200	Weak transcription	Pancreas	Pancrea
12	chr19:22708000-22708600	Flanking Active TSS	Ovary	ovary
13	chr19:22708200-22708600	Enhancers	Pancreas	Pancrea
14	chr19:22708400-22709400	Enhancers	Colon Smooth Muscle	Colon
15	chr19:22708600-22709400	Weak transcription	Pancreas	Pancrea
16	chr19:22708600-22716200	Active TSS	Ovary	ovary
17	chr19:22708800-22709200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:22709200-22709400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr19:22709400-22709600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:22709400-22709600	Flanking Active TSS	Aorta	Aorta
21	chr19:22709400-22709600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr19:22709400-22710200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:22709400-22710200	Active TSS	Pancreas	Pancrea
24	chr19:22709400-22710800	Active TSS	Right Atrium	heart
25	chr19:22709600-22710000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
26	chr19:22709600-22710200	Active TSS	Rectal Smooth Muscle	rectum
27	chr19:22709600-22710400	Active TSS	Brain Anterior Caudate	brain
28	chr19:22709600-22710400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr19:22709600-22710600	Active TSS	Colon Smooth Muscle	Colon
30	chr19:22709600-22710800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr19:22709600-22716200	Active TSS	Aorta	Aorta
32	chr19:22710200-22710400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr19:22710200-22710400	Flanking Active TSS	Pancreas	Pancrea
34	chr19:22710200-22710400	Enhancers	Rectal Smooth Muscle	rectum

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