Variant report

Variant	nsv978788
Chromosome Location	chr19:21403145-21458328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:268)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:21405239-21405611	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr19:21405281-21405550	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr19:21412789-21413093	K562	blood:	n/a	n/a
4	CBX3	chr19:21412796-21413087	K562	blood:	n/a	n/a
5	CEBPB	chr19:21421623-21421728	K562	blood:	n/a	chr19:21421653-21421664
6	CEBPB	chr19:21421511-21421818	A549	lung:	n/a	chr19:21421653-21421664
7	CEBPB	chr19:21421599-21421797	HepG2	liver:	n/a	chr19:21421653-21421664
8	CEBPB	chr19:21412935-21412982	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr19:21405273-21405553	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr19:21439680-21439830	GM12878	blood:	n/a	n/a
11	CTCF	chr19:21439552-21439780	Lung_OC	lung:	n/a	n/a
12	CTCF	chr19:21439628-21439821	Gliobla	brain:	n/a	n/a
13	CTCF	chr19:21439585-21439840	K562	blood:	n/a	n/a
14	CTCF	chr19:21439680-21439830	BE2_C	brain:	n/a	n/a
15	CTCF	chr19:21439667-21439809	ProgFib	skin:	n/a	n/a
16	CTCF	chr19:21439620-21439770	AG09319	gingival:	n/a	n/a
17	CTCF	chr19:21439640-21439790	HMF	breast:	n/a	n/a
18	CTCF	chr19:21439611-21439867	HepG2	liver:	n/a	n/a
19	CTCF	chr19:21439640-21439790	Caco-2	colon:	n/a	n/a
20	CTCF	chr19:21439686-21439834	Fibrobl	skin:	n/a	n/a
21	CTCF	chr19:21439680-21439830	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr19:21439640-21439790	AG10803	skin:	n/a	n/a
23	CTCF	chr19:21439596-21439860	Medullo	brain:	n/a	n/a
24	CTCF	chr19:21436894-21436899	GM10248	blood:	n/a	n/a
25	CTCF	chr19:21439640-21439790	HMEC	breast:	n/a	n/a
26	CTCF	chr19:21439660-21439810	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr19:21439680-21439830	RPTEC	kidney:	n/a	n/a
28	CTCF	chr19:21439600-21439750	GM12864	blood:	n/a	n/a
29	CTCF	chr19:21439516-21439910	GM12878	blood:	n/a	n/a
30	CTCF	chr19:21439547-21439922	IMR90	lung:	n/a	n/a
31	CTCF	chr19:21439660-21439810	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr19:21439580-21439730	GM12875	blood:	n/a	n/a
33	CTCF	chr19:21439780-21439930	HFF-Myc	foreskin:	n/a	n/a
34	CTCF	chr19:21439369-21440081	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr19:21439600-21439750	HCT-116	colon:	n/a	n/a
36	CTCF	chr19:21439657-21439754	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr19:21439675-21439775	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr19:21439660-21439810	HEK293	kidney:	n/a	n/a
39	CTCF	chr19:21439640-21439790	AG04450	lung:	n/a	n/a
40	CTCF	chr19:21439680-21439830	HMEC	breast:	n/a	n/a
41	CTCF	chr19:21439660-21439810	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr19:21439427-21439950	HepG2	liver:	n/a	n/a
43	CTCF	chr19:21439660-21439810	A549	lung:	n/a	n/a
44	CTCF	chr19:21439414-21439946	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr19:21439660-21439810	AG09309	skin:	n/a	n/a
46	CTCF	chr19:21439522-21439926	T-47D	breast:	n/a	n/a
47	CTCF	chr19:21439680-21439830	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr19:21439637-21439770	GM13976	blood:	n/a	n/a
49	CTCF	chr19:21439760-21439910	GM12873	blood:	n/a	n/a
50	CTCF	chr19:21439620-21439770	HCM	heart:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF708-10	chr19:21404447-21405548	NONHSAT063691
2	lnc-ZNF708-9	chr19:21427914-21428043	NONHSAT063692
3	lnc-ZNF708-9	chr19:21427315-21427409	NONHSAT063692
4	lnc-ZNF708-9	chr19:21407900-21407987	NONHSAT063692

No data

Variant related genes	Relation type
RPL36AP51	TF binding region
ENSG00000268892	TF binding region
ENSG00000269839	TF binding region

Extended variants
information (count: 2172 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:2172 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs30111	chr19:21403188-21403189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186256655	chr19:21403223-21403224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114073930	chr19:21403235-21403236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539549823	chr19:21403280-21403281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76543955	chr19:21403282-21403283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73014139	chr19:21403342-21403343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148225231	chr19:21403350-21403351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143635868	chr19:21403387-21403388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57887664	chr19:21403388-21403389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6511216	chr19:21403389-21403390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538476509	chr19:21403421-21403422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555280997	chr19:21403497-21403498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575012664	chr19:21403505-21403506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374070659	chr19:21403513-21403514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1781877	chr19:21403544-21403545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189565970	chr19:21403550-21403551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555270962	chr19:21403554-21403555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532525420	chr19:21403598-21403599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545893722	chr19:21403636-21403637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182341353	chr19:21403650-21403651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575080754	chr19:21403651-21403652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554281564	chr19:21403694-21403695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11880246	chr19:21403747-21403748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558056917	chr19:21403780-21403781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568371794	chr19:21403920-21403921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530710699	chr19:21403926-21403927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1617506	chr19:21403996-21403997	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570664374	chr19:21404007-21404008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539616630	chr19:21404035-21404036	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531808135	chr19:21404067-21404068	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553120109	chr19:21404177-21404178	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78049861	chr19:21404187-21404188	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566558708	chr19:21404242-21404243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535464084	chr19:21404267-21404268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555068131	chr19:21404272-21404273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575120116	chr19:21404276-21404277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114629033	chr19:21404287-21404288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1620157	chr19:21404350-21404351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs577042122	chr19:21404357-21404358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575765022	chr19:21404373-21404374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545951707	chr19:21404417-21404418	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs75646736	chr19:21404421-21404422	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs141140446	chr19:21404457-21404458	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs534227572	chr19:21404471-21404472	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs528556362	chr19:21404541-21404542	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs7245597	chr19:21404615-21404616	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs371009608	chr19:21404618-21404619	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs147361997	chr19:21404704-21404705	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs73547896	chr19:21404706-21404707	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550917235	chr19:21404720-21404721	Weak transcription Enhancers	lncRNA	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	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21398000-21404000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:21399400-21403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr19:21400000-21403800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:21401800-21405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:21402200-21404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:21403200-21404600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr19:21403600-21405400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr19:21403800-21404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr19:21403800-21405000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:21403800-21405400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr19:21404000-21404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr19:21404000-21404200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:21404200-21404400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr19:21404200-21404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:21404400-21404600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:21404400-21405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:21404400-21406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:21404600-21405200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr19:21404600-21405600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr19:21405400-21407800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:21405600-21405800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:21405800-21406800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:21405800-21430000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:21406800-21407000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:21406800-21407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:21407000-21410600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:21410600-21411600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr19:21413200-21414200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:21416600-21416800	Enhancers	Pancreas	Pancrea
30	chr19:21416600-21417200	Enhancers	Stomach Mucosa	stomach
31	chr19:21416600-21417600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr19:21417200-21418400	Weak transcription	Stomach Mucosa	stomach
33	chr19:21417600-21419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:21418400-21420800	Enhancers	Stomach Mucosa	stomach
35	chr19:21419000-21419600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:21419200-21419400	Enhancers	Gastric	stomach
37	chr19:21419200-21420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:21419400-21420400	Weak transcription	Gastric	stomach
39	chr19:21419600-21420000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:21420000-21420600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr19:21420400-21420600	Enhancers	Gastric	stomach
42	chr19:21421400-21421800	Active TSS	A549	lung
43	chr19:21429800-21430400	Enhancers	H1 Cell Line	embryonic stem cell
44	chr19:21430000-21430400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr19:21430000-21430400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr19:21430000-21430400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:21430000-21430400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:21430000-21430400	Enhancers	Ovary	ovary
49	chr19:21430200-21430400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr19:21430400-21436200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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