Variant report

Variant	nsv578950
Chromosome Location	chr19:21388995-21477431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:425)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21392842-21393238	HepG2	liver:	n/a	n/a
2	ATF2	chr19:21405239-21405611	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr19:21405281-21405550	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr19:21412789-21413093	K562	blood:	n/a	n/a
5	CBX3	chr19:21412796-21413087	K562	blood:	n/a	n/a
6	CEBPB	chr19:21421623-21421728	K562	blood:	n/a	chr19:21421653-21421664
7	CEBPB	chr19:21421511-21421818	A549	lung:	n/a	chr19:21421653-21421664
8	CEBPB	chr19:21421599-21421797	HepG2	liver:	n/a	chr19:21421653-21421664
9	CEBPB	chr19:21412935-21412982	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr19:21394177-21394275	A549	lung:	n/a	chr19:21394220-21394233
11	CHD2	chr19:21405273-21405553	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:21438561-21438631	Lung_OC	lung:	n/a	n/a
13	CTCF	chr19:21393400-21393550	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr19:21439760-21439910	GM12873	blood:	n/a	n/a
15	CTCF	chr19:21392803-21392810	K562	blood:	n/a	n/a
16	CTCF	chr19:21439680-21439830	HMEC	breast:	n/a	n/a
17	CTCF	chr19:21439518-21439966	MCF-7	breast:	n/a	n/a
18	CTCF	chr19:21439680-21439830	SAEC	small airway:	n/a	n/a
19	CTCF	chr19:21439475-21439869	HepG2	liver:	n/a	n/a
20	CTCF	chr19:21392737-21392816	H1-hESC	embryonic stem cell:	n/a	chr19:21392773-21392786 chr19:21392774-21392783 chr19:21392770-21392788
21	CTCF	chr19:21420104-21420131	GM20000	blood:	n/a	n/a
22	CTCF	chr19:21439647-21439807	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr19:21439620-21439770	HCM	heart:	n/a	n/a
24	CTCF	chr19:21439608-21439760	Spleen_OC	spleen:	n/a	n/a
25	CTCF	chr19:21439458-21439875	K562	blood:	n/a	n/a
26	CTCF	chr19:21439616-21439851	A549	lung:	n/a	n/a
27	CTCF	chr19:21439640-21439790	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr19:21439680-21439830	GM06990	blood:	n/a	n/a
29	CTCF	chr19:21439401-21439997	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:21449816-21449854	LNCaP	prostate:	n/a	n/a
31	CTCF	chr19:21439640-21439790	HMF	breast:	n/a	n/a
32	CTCF	chr19:21439640-21439790	NHEK	skin:	n/a	n/a
33	CTCF	chr19:21439675-21439775	Pancreas_OC	pancreas:	n/a	n/a
34	CTCF	chr19:21439635-21439831	GM13977	blood:	n/a	n/a
35	CTCF	chr19:21439614-21439844	MCF-7	breast:	n/a	n/a
36	CTCF	chr19:21439580-21439730	K562	blood:	n/a	n/a
37	CTCF	chr19:21439600-21439750	HEK293	kidney:	n/a	n/a
38	CTCF	chr19:21439621-21439850	NHEK	skin:	n/a	n/a
39	CTCF	chr19:21439640-21439790	AG10803	skin:	n/a	n/a
40	CTCF	chr19:21439680-21439830	BE2_C	brain:	n/a	n/a
41	CTCF	chr19:21439502-21439959	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr19:21407649-21407724	GM20000	blood:	n/a	n/a
43	CTCF	chr19:21439660-21439810	A549	lung:	n/a	n/a
44	CTCF	chr19:21392767-21392776	K562	blood:	n/a	n/a
45	CTCF	chr19:21439520-21439915	K562	blood:	n/a	n/a
46	CTCF	chr19:21438460-21438610	GM12874	blood:	n/a	n/a
47	CTCF	chr19:21439660-21439810	GM12873	blood:	n/a	n/a
48	CTCF	chr19:21439680-21439830	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr19:21439700-21439850	HCT-116	colon:	n/a	n/a
50	CTCF	chr19:21439660-21439810	HBMEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21462003..21463957-chr19:21465037..21467413,2	MCF-7	breast:
2	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:
3	chr19:21392274..21393855-chr19:21395475..21398127,2	K562	blood:
4	chr19:21462003..21463957-chr19:21465037..21467413,2	MCF-7	breast:
5	chr19:21458436..21458960-chr5:35617140..35617799,2	Hela-S3	cervix:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF708-3	chr19:21473948-21474588	NONHSAT063696
2	lnc-ZNF708-5	chr19:21458825-21459134	NONHSAT063694
3	lnc-ZNF708-9	chr19:21407900-21407987	NONHSAT063692
4	lnc-ZNF738-5	chr19:21469736-21469849	ucscGeneNc_uc002nqb_2
5	lnc-ZNF738-5	chr19:21475913-21477566	ucscGeneNc_uc002nqb_2
6	lnc-ZNF738-5	chr19:21464307-21464412	ucscGeneNc_uc002nqb_2
7	lnc-ZNF708-9	chr19:21427315-21427409	NONHSAT063692
8	lnc-ZNF708-9	chr19:21427914-21428043	NONHSAT063692
9	lnc-ZNF738-5	chr19:21458357-21458648	ucscGeneNc_uc002nqb_2
10	lnc-ZNF738-5	chr19:21460747-21460795	ucscGeneNc_uc002nqb_2
11	lnc-ZNF738-5	chr19:21465045-21465156	ucscGeneNc_uc002nqb_2
12	lnc-ZNF738-5	chr19:21468762-21468973	ucscGeneNc_uc002nqb_2
13	lnc-ZNF708-4	chr19:21472356-21472800	NONHSAT063695
14	lnc-ZNF738-5	chr19:21471294-21471364	ucscGeneNc_uc002nqb_2
15	lnc-ZNF738-5	chr19:21472841-21472991	ucscGeneNc_uc002nqb_2
16	lnc-ZNF738-5	chr19:21465851-21465953	ucscGeneNc_uc002nqb_2
17	lnc-ZNF708-10	chr19:21404447-21405548	NONHSAT063691
18	lnc-ZNF738-5	chr19:21467908-21468489	ucscGeneNc_uc002nqb_2

No data

Variant related genes	Relation type
RPL36AP51	TF binding region
ENSG00000268892	TF binding region
VN1R83P	TF binding region
ENSG00000269839	TF binding region
ENSG00000268747	TF binding region

Extended variants
information (count: 3446 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:3446 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2081188	chr19:21388995-21388996	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147543118	chr19:21389014-21389015	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536855925	chr19:21389047-21389048	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556781546	chr19:21389048-21389049	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576639993	chr19:21389055-21389056	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2081187	chr19:21389111-21389112	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs139667387	chr19:21389136-21389137	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558951664	chr19:21389162-21389163	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572360071	chr19:21389190-21389191	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs29700	chr19:21389249-21389250	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186217013	chr19:21389252-21389253	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547537907	chr19:21389297-21389298	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560870090	chr19:21389305-21389306	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551461875	chr19:21389345-21389346	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7246287	chr19:21389352-21389353	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571758250	chr19:21389359-21389360	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543246626	chr19:21389364-21389365	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146677357	chr19:21389393-21389394	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111427879	chr19:21389426-21389427	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2081186	chr19:21389458-21389459	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs2081185	chr19:21389460-21389461	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140714898	chr19:21389477-21389478	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567883887	chr19:21389510-21389511	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144456916	chr19:21389520-21389521	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2081184	chr19:21389546-21389547	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567996057	chr19:21389561-21389562	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111455890	chr19:21389565-21389566	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550446445	chr19:21389580-21389581	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186211850	chr19:21389633-21389634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2081183	chr19:21389635-21389636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs149184310	chr19:21389697-21389698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572475666	chr19:21389707-21389708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1781862	chr19:21389748-21389749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs148321302	chr19:21389749-21389750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141690409	chr19:21389800-21389801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543307504	chr19:21389810-21389811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563182630	chr19:21389824-21389825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570342474	chr19:21389850-21389851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368575461	chr19:21389869-21389870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372719650	chr19:21389908-21389909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375538253	chr19:21389923-21389924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559201987	chr19:21389936-21389937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111669980	chr19:21389956-21389957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111998774	chr19:21389961-21389962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528177640	chr19:21389962-21389963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541876712	chr19:21389984-21389985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560913287	chr19:21390002-21390003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530458555	chr19:21390004-21390005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550506752	chr19:21390052-21390053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539236205	chr19:21390081-21390082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:349 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21380600-21389600	Enhancers	Ovary	ovary
2	chr19:21387000-21389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr19:21388000-21389400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:21388400-21389400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:21388600-21389400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:21388800-21389600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:21389000-21389400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr19:21389600-21389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:21389600-21397600	Weak transcription	Ovary	ovary
10	chr19:21392800-21393000	Enhancers	HepG2	liver
11	chr19:21392800-21393600	Enhancers	Pancreas	Pancrea
12	chr19:21393000-21393600	Bivalent Enhancer	HepG2	liver
13	chr19:21393200-21393600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:21393200-21393600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:21393200-21394200	Enhancers	Stomach Mucosa	stomach
16	chr19:21394200-21394400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:21396600-21397000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr19:21397000-21397600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr19:21397200-21398200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr19:21397600-21397800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr19:21397600-21398000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:21397600-21398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr19:21397600-21398200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:21397600-21398200	Enhancers	Ovary	ovary
25	chr19:21397600-21399400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr19:21398000-21399000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr19:21398000-21404000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:21398200-21402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:21399000-21399200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr19:21399200-21399400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr19:21399200-21399400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr19:21399200-21399600	Enhancers	H1 Cell Line	embryonic stem cell
33	chr19:21399400-21400000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr19:21399400-21403600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:21400000-21403800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr19:21401600-21401800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:21401800-21405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:21402200-21404400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:21403200-21404600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr19:21403600-21405400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr19:21403800-21404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr19:21403800-21405000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr19:21403800-21405400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr19:21404000-21404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr19:21404000-21404200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr19:21404200-21404400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr19:21404200-21404600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:21404400-21404600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr19:21404400-21405200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:21404400-21406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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