Variant report

Variant	nsv432036
Chromosome Location	chr19:20851860-21001960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:524)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:20958836-20959136	HepG2	liver:	n/a	n/a
2	ATF1	chr19:20958907-20959195	K562	blood:	n/a	n/a
3	BATF	chr19:20933377-20933590	GM12878	blood:	n/a	n/a
4	BATF	chr19:20970637-20971050	GM12878	blood:	n/a	chr19:20970856-20970867 chr19:20970857-20970867
5	BATF	chr19:20970646-20970943	GM12878	blood:	n/a	chr19:20970856-20970867 chr19:20970857-20970867
6	BCL11A	chr19:20970637-20970914	GM12878	blood:	n/a	chr19:20970859-20970868 chr19:20970860-20970869
7	BHLHE40	chr19:20958960-20959285	GM12878	blood:	n/a	n/a
8	BRCA1	chr19:20959318-20959498	GM12878	blood:	n/a	n/a
9	BRCA1	chr19:20959419-20959438	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:20909924-20910145	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:20958824-20959032	K562	blood:	n/a	chr19:20959022-20959030
12	CEBPB	chr19:20958915-20959172	HepG2	liver:	n/a	chr19:20959022-20959030
13	CHD1	chr19:20959194-20959482	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr19:20959134-20959334	GM12878	blood:	n/a	n/a
15	CHD2	chr19:20958856-20959221	K562	blood:	n/a	n/a
16	CHD2	chr19:20958845-20959293	GM12878	blood:	n/a	n/a
17	CHD2	chr19:20958831-20959334	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr19:20959455-20959472	K562	blood:	n/a	n/a
19	CHD2	chr19:20958912-20959333	HepG2	liver:	n/a	n/a
20	CTCF	chr19:20947464-20947563	GM20000	blood:	n/a	n/a
21	CTCF	chr19:20933337-20933467	GM12891	blood:	n/a	n/a
22	CTCF	chr19:20990596-20990708	ProgFib	skin:	n/a	n/a
23	CTCF	chr19:20959000-20959150	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr19:20984469-20984553	Lung_OC	lung:	n/a	n/a
25	CTCF	chr19:20883918-20883956	ProgFib	skin:	n/a	n/a
26	CTCF	chr19:20932492-20932655	A549	lung:	n/a	n/a
27	CTCF	chr19:20959236-20959327	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr19:20959340-20959490	HMEC	breast:	n/a	n/a
29	CTCF	chr19:20881741-20881777	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr19:20954123-20954233	Lung_OC	lung:	n/a	n/a
31	CTCF	chr19:20913880-20913928	GM13976	blood:	n/a	n/a
32	CTCF	chr19:20952302-20952322	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr19:20959198-20959259	GM10266	blood:	n/a	n/a
34	CTCF	chr19:20883972-20883981	GM10248	blood:	n/a	n/a
35	CTCF	chr19:20959364-20959425	Lung_OC	lung:	n/a	n/a
36	CTCF	chr19:20959368-20959426	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:20941413-20941491	GM13976	blood:	n/a	n/a
38	CTCF	chr19:20943123-20943212	Lung_OC	lung:	n/a	n/a
39	CTCF	chr19:20946772-20946828	GM13976	blood:	n/a	n/a
40	CTCF	chr19:20933395-20933452	GM19240	blood:	n/a	n/a
41	CTCF	chr19:20934480-20934630	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr19:20863438-20863490	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr19:20952173-20952292	LNCaP	prostate:	n/a	n/a
44	CTCF	chr19:20933420-20933570	SAEC	small airway:	n/a	n/a
45	CTCF	chr19:20932360-20932510	MCF-7	breast:	n/a	n/a
46	CTCF	chr19:20952210-20952285	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr19:20959427-20959430	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:20932420-20932570	HMEC	breast:	n/a	n/a
49	CTCF	chr19:20952282-20952330	LNCaP	prostate:	n/a	n/a
50	CTCF	chr19:20952335-20952338	LNCaP	prostate:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20959492-20959542	HAEpiC	amniotic membrane:	n/a
2	chr19:20959100-20959150	BE2_C	brain:	n/a
3	chr19:20959091-20959141	HCPEpiC	choroid plexus:	n/a
4	chr19:20959100-20959150	Hepatocyte	liver:	n/a
5	chr19:20959091-20959141	PrEC	prostate:	n/a
6	chr19:20959091-20959141	NH-A	brain:	n/a
7	chr19:20959091-20959141	HNPCEpiC	eye:	n/a
8	chr19:20959100-20959150	Jurkat	blood:	n/a
9	chr19:20959091-20959141	NT2-D1	testis:	n/a
10	chr19:20959492-20959542	AG09309	skin:	n/a
11	chr19:20959100-20959150	AG09309	skin:	n/a
12	chr19:20959100-20959150	GM12892	blood:	n/a
13	chr19:20959091-20959141	NHBE	bronchial:	n/a
14	chr19:20959100-20959150	HEEpiC	esophagus:	n/a
15	chr19:20959100-20959150	HMEC	breast:	n/a
16	chr19:20959100-20959150	A549	lung:	n/a
17	chr19:20959091-20959141	HMEC	breast:	n/a
18	chr19:20959100-20959150	HRCEpiC	kidney:	n/a
19	chr19:20959091-20959141	AG09319	gingival:	n/a
20	chr19:20959100-20959150	HUVEC	blood vessel:	n/a
21	chr19:20959091-20959141	HEK293	kidney:	embryo
22	chr19:20959091-20959141	LNCaP	prostate:	n/a
23	chr19:20959100-20959150	GM19239	blood:	n/a
24	chr19:20959492-20959542	Jurkat	blood:	n/a
25	chr19:20959100-20959150	HIPEpiC	eye:	n/a
26	chr19:20959100-20959150	NH-A	brain:	n/a
27	chr19:20959492-20959542	HCT-116	colon:	n/a
28	chr19:20959091-20959141	HEEpiC	esophagus:	n/a
29	chr19:20959100-20959150	HNPCEpiC	eye:	n/a
30	chr19:20959091-20959141	MCF10A-Er-Src	breast:	n/a
31	chr19:20959492-20959542	HNPCEpiC	eye:	n/a
32	chr19:20959100-20959150	Caco-2	colon:	n/a
33	chr19:20959100-20959150	NHBE	bronchial:	n/a
34	chr19:20959492-20959542	ovcar-3	ovarian:	n/a
35	chr19:20959100-20959150	AG04450	lung:	fetal
36	chr19:20959091-20959141	MCF-7	breast:	n/a
37	chr19:20959492-20959542	GM06990	blood:	n/a
38	chr19:20959100-20959150	AG10803	skin:	n/a
39	chr19:20959492-20959542	NHBE	bronchial:	n/a
40	chr19:20959492-20959542	HMEC	breast:	n/a
41	chr19:20959492-20959542	GM19239	blood:	n/a
42	chr19:20959091-20959141	Hepatocyte	liver:	n/a
43	chr19:20959100-20959150	GM12878	blood:	n/a
44	chr19:20959492-20959542	HEEpiC	esophagus:	n/a
45	chr19:20959091-20959141	SAEC	small airway:	n/a
46	chr19:20959492-20959542	BJ	skin:	n/a
47	chr19:20959100-20959150	HL-60	blood:	n/a
48	chr19:20959492-20959542	PANC-1	pancreas:	n/a
49	chr19:20959100-20959150	T-47D	breast:	n/a
50	chr19:20959100-20959150	SAEC	small airway:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:20957022..20960457-chr19:20966415..20968798,3	K562	blood:
2	chr19:20957022..20960457-chr19:20966415..20968798,3	K562	blood:
3	chr19:20958957..20961587-chr19:20963643..20966546,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF626-3	chr19:20967402-20967958	NONHSAT063672
2	lnc-ZNF85-7	chr19:20957538-20959081	l_1659_chr19:20946829-20959081_testes
3	lnc-ZNF85-3	chr19:20857719-20857891	XLOC_013004
4	lnc-ZNF85-2	chr19:20997935-21000305	ENSG00000250870
5	lnc-ZNF85-8	chr19:20941246-20941758	NONHSAT063671
6	lnc-ZNF85-7	chr19:20946830-20947163	l_1659_chr19:20946829-20959081_testes

No data

Variant related genes	Relation type
ZNF66	TF binding region
VN1R79P	TF binding region
ENSG00000268416	TF binding region
ENSG00000269040	TF binding region
ENSG00000266156	TF binding region
ENSG00000269779	TF binding region
ZNF66	CpG island
VN1R79P	CpG island
ENSG00000268416	CpG island
ENSG00000269040	CpG island
ENSG00000266156	CpG island
ENSG00000269779	CpG island
ENSG00000160229	chromatin interactions
ENSG00000269040	chromatin interactions
CCNE2	miRNA target sites
WDR33	miRNA target sites

Extended variants
information (count: 3377 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:3377 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12971592	chr19:20851896-20851897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191302660	chr19:20851943-20851944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574431354	chr19:20851953-20851954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112603547	chr19:20851954-20851955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576608442	chr19:20851955-20851956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs71174733	chr19:20851975-20851976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115453335	chr19:20851982-20851983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12971404	chr19:20851988-20851989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576473368	chr19:20852007-20852008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545258747	chr19:20852074-20852075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182874465	chr19:20852106-20852107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572278157	chr19:20852251-20852252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149411767	chr19:20852262-20852263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs8101051	chr19:20852289-20852290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs8100460	chr19:20852302-20852303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs550290125	chr19:20852324-20852325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201076531	chr19:20852325-20852326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558781826	chr19:20852335-20852336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370696021	chr19:20852376-20852377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532552094	chr19:20852406-20852407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13345758	chr19:20852421-20852422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75981578	chr19:20852447-20852448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534226064	chr19:20852499-20852500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565994115	chr19:20852513-20852514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187292568	chr19:20852526-20852527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548055312	chr19:20852532-20852533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117121516	chr19:20852664-20852665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554205424	chr19:20852668-20852669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192126822	chr19:20852723-20852724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369594948	chr19:20852728-20852729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576384738	chr19:20852840-20852841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539070501	chr19:20852858-20852859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572428376	chr19:20852867-20852868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35076092	chr19:20852878-20852879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs58299650	chr19:20852888-20852889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs369218248	chr19:20852903-20852904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183204255	chr19:20852911-20852912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561314135	chr19:20852948-20852949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12981702	chr19:20853001-20853002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs34723149	chr19:20853013-20853014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377562608	chr19:20853014-20853015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543504574	chr19:20853056-20853057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563793401	chr19:20853077-20853078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532513547	chr19:20853081-20853082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552587668	chr19:20853118-20853119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559811648	chr19:20853127-20853128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141903092	chr19:20853153-20853154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548507527	chr19:20853189-20853190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35191658	chr19:20853225-20853226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187711308	chr19:20853237-20853238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20848400-20857200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20862800-20863400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:20874000-20877200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:20877200-20877400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:20877200-20877400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr19:20877400-20877600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr19:20883400-20884400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:20928800-20929400	Enhancers	Ovary	ovary
9	chr19:20929400-20930800	Active TSS	Ovary	ovary
10	chr19:20930000-20930200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr19:20930600-20930800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr19:20930800-20931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:20930800-20931000	Enhancers	Ovary	ovary
14	chr19:20930800-20932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:20931000-20932200	Weak transcription	Ovary	ovary
16	chr19:20932200-20932600	Enhancers	Ovary	ovary
17	chr19:20932200-20933200	Active TSS	Pancreas	Pancrea
18	chr19:20932400-20932600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr19:20932600-20933200	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr19:20932600-20934400	Weak transcription	Ovary	ovary
21	chr19:20933000-20933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:20933200-20933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr19:20933200-20933800	Weak transcription	Pancreas	Pancrea
24	chr19:20933400-20934000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr19:20933800-20934000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:20933800-20934000	Enhancers	Pancreas	Pancrea
27	chr19:20934000-20936400	Weak transcription	Pancreas	Pancrea
28	chr19:20934400-20934600	Enhancers	Ovary	ovary
29	chr19:20934600-20935000	Weak transcription	Ovary	ovary
30	chr19:20935000-20938800	Enhancers	Ovary	ovary
31	chr19:20936800-20937000	Enhancers	Pancreas	Pancrea
32	chr19:20947000-20947400	Enhancers	Placenta Amnion	Placenta Amnion
33	chr19:20947000-20947600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:20951600-20952600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
35	chr19:20952000-20952200	Enhancers	Pancreas	Pancrea
36	chr19:20952200-20959000	Weak transcription	Pancreas	Pancrea
37	chr19:20958600-20958800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr19:20958600-20958800	Enhancers	Dnd41	blood
39	chr19:20958600-20960000	Active TSS	Primary T cells from cord blood	blood
40	chr19:20958800-20959000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr19:20958800-20959000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:20958800-20959000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:20958800-20959000	Enhancers	Stomach Smooth Muscle	stomach
44	chr19:20958800-20959000	Flanking Active TSS	Dnd41	blood
45	chr19:20958800-20959200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:20958800-20959200	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr19:20958800-20959400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:20958800-20959600	Active TSS	Primary B cells from cord blood	blood
49	chr19:20958800-20959600	Active TSS	Fetal Muscle Trunk	muscle
50	chr19:20958800-20959800	Active TSS	Primary monocytes fromperipheralblood	blood

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