Variant report

Variant	nsv543966
Chromosome Location	chr19:23744972-23766289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF675-1	chr19:23748014-23748050	XLOC_013278

Variant related genes	Relation type
TRAM1	miRNA target sites

Extended variants
information (count: 815 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551671929	chr19:23745038-23745039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542657480	chr19:23745059-23745060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377385819	chr19:23745077-23745078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34526396	chr19:23745118-23745119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190337522	chr19:23745122-23745123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181069072	chr19:23745123-23745124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11882857	chr19:23745133-23745134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565323077	chr19:23745166-23745167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35329492	chr19:23745170-23745171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547610981	chr19:23745202-23745203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550771018	chr19:23745242-23745243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56393515	chr19:23745243-23745244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185859899	chr19:23745263-23745264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556059768	chr19:23745264-23745265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142849798	chr19:23745323-23745324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534603494	chr19:23745327-23745328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546907718	chr19:23745346-23745347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34218833	chr19:23745354-23745355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199844885	chr19:23745356-23745357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535921453	chr19:23745357-23745358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534489008	chr19:23745358-23745359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181272525	chr19:23745363-23745364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576284274	chr19:23745364-23745365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555550131	chr19:23745365-23745366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2116913	chr19:23745366-23745367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575609602	chr19:23745392-23745393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554598157	chr19:23745413-23745414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545261353	chr19:23745426-23745427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369494164	chr19:23745441-23745442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76467562	chr19:23745472-23745473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2116912	chr19:23745475-23745476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12459046	chr19:23745485-23745486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564965740	chr19:23745549-23745550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558031746	chr19:23745550-23745551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146858522	chr19:23745551-23745552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530129364	chr19:23745581-23745582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56353973	chr19:23745584-23745585	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560098853	chr19:23745595-23745596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527710673	chr19:23745626-23745627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11878212	chr19:23745636-23745637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571531607	chr19:23745643-23745644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538413443	chr19:23745644-23745645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11881028	chr19:23745656-23745657	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576935674	chr19:23745681-23745682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185293412	chr19:23745706-23745707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536340022	chr19:23745776-23745777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554735457	chr19:23745784-23745785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73561118	chr19:23745805-23745806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533798414	chr19:23745818-23745819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190539384	chr19:23745873-23745874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:23738400-23752600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:23745600-23749800	Enhancers	Placenta	Placenta
3	chr19:23746000-23748800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr19:23746200-23746400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr19:23746400-23754000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:23748200-23748400	Enhancers	Right Atrium	heart
7	chr19:23748400-23752600	Weak transcription	Right Atrium	heart
8	chr19:23750400-23750800	Active TSS	HUVEC	blood vessel
9	chr19:23750600-23750800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:23750800-23752000	Weak transcription	HUVEC	blood vessel
11	chr19:23752000-23753000	Active TSS	HUVEC	blood vessel
12	chr19:23752000-23754400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:23752400-23753000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
14	chr19:23752400-23753000	ZNF genes & repeats	Dnd41	blood
15	chr19:23752400-23753200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:23752400-23753200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr19:23752400-23753400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:23752600-23752800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:23752600-23752800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr19:23752600-23753000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:23752600-23753000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:23752600-23753000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:23752600-23753000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr19:23752600-23753000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
25	chr19:23752600-23753000	Active TSS	Primary T cells from cord blood	blood
26	chr19:23752600-23753000	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
27	chr19:23752600-23753000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:23752600-23753000	ZNF genes & repeats	Esophagus	oesophagus
29	chr19:23752600-23753000	ZNF genes & repeats	Fetal Lung	lung
30	chr19:23752600-23753000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
31	chr19:23752600-23753000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr19:23752600-23753000	ZNF genes & repeats	Right Atrium	heart
33	chr19:23752600-23753000	Active TSS	Stomach Smooth Muscle	stomach
34	chr19:23752600-23753000	Active TSS	GM12878-XiMat	blood
35	chr19:23752600-23753000	Active TSS	K562	blood
36	chr19:23752600-23753200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:23752600-23753200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr19:23752600-23754600	ZNF genes & repeats	Liver	Liver
39	chr19:23752600-23755000	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr19:23752800-23753000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:23752800-23753000	ZNF genes & repeats	Spleen	Spleen
42	chr19:23753800-23754200	Active TSS	Fetal Heart	heart
43	chr19:23754000-23754200	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
44	chr19:23754200-23756600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:23756600-23757200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr19:23757200-23757800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr19:23757800-23758000	Enhancers	Placenta Amnion	Placenta Amnion

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