Variant report

Variant	nsv1067085
Chromosome Location	chr19:20912304-21008838
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr19:20958915-20959172	HepG2	liver:	n/a	chr19:20959022-20959030
11	CEBPB	chr19:20958824-20959032	K562	blood:	n/a	chr19:20959022-20959030
12	CHD1	chr19:20959194-20959482	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr19:20959134-20959334	GM12878	blood:	n/a	n/a
14	CHD2	chr19:20958912-20959333	HepG2	liver:	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	chr19:20959455-20959472	K562	blood:	n/a	n/a
18	CHD2	chr19:20958831-20959334	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr19:20984469-20984553	Lung_OC	lung:	n/a	n/a
20	CTCF	chr19:20959236-20959327	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr19:20933443-20933484	LNCaP	prostate:	n/a	n/a
22	CTCF	chr19:20932498-20932682	A549	lung:	n/a	n/a
23	CTCF	chr19:20952040-20952190	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr19:20913880-20913928	GM13976	blood:	n/a	n/a
25	CTCF	chr19:20934480-20934630	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr19:20959000-20959150	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr19:20952302-20952322	Kidney_OC	kidney:	n/a	n/a
28	CTCF	chr19:20933368-20933467	GM19238	blood:	n/a	n/a
29	CTCF	chr19:20989905-20989922	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr19:20933395-20933452	GM19240	blood:	n/a	n/a
31	CTCF	chr19:20952173-20952292	LNCaP	prostate:	n/a	n/a
32	CTCF	chr19:20932492-20932655	A549	lung:	n/a	n/a
33	CTCF	chr19:20934550-20934589	Medullo	brain:	n/a	n/a
34	CTCF	chr19:20932360-20932510	MCF-7	breast:	n/a	n/a
35	CTCF	chr19:20949612-20949723	GM13976	blood:	n/a	n/a
36	CTCF	chr19:20941413-20941491	GM13976	blood:	n/a	n/a
37	CTCF	chr19:20932483-20932700	K562	blood:	n/a	n/a
38	CTCF	chr19:20941396-20941411	GM13976	blood:	n/a	n/a
39	CTCF	chr19:20958872-20959075	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr19:20934577-20934629	Lung_OC	lung:	n/a	n/a
41	CTCF	chr19:20952335-20952338	LNCaP	prostate:	n/a	n/a
42	CTCF	chr19:20932498-20932681	A549	lung:	n/a	n/a
43	CTCF	chr19:20931577-20931698	GM20000	blood:	n/a	n/a
44	CTCF	chr19:20933337-20933467	GM12891	blood:	n/a	n/a
45	CTCF	chr19:20934582-20934678	HepG2	liver:	n/a	n/a
46	CTCF	chr19:20947464-20947563	GM20000	blood:	n/a	n/a
47	CTCF	chr19:20932460-20932610	SAEC	small airway:	n/a	n/a
48	CTCF	chr19:20954123-20954233	Lung_OC	lung:	n/a	n/a
49	CTCF	chr19:20946772-20946828	GM13976	blood:	n/a	n/a
50	CTCF	chr19:20959427-20959430	MCF-7	breast:	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	HL-60	blood:	n/a
2	chr19:20959100-20959150	AG09319	gingival:	n/a
3	chr19:20959091-20959141	GM12878	blood:	n/a
4	chr19:20959091-20959141	NB4	blood:	n/a
5	chr19:20959091-20959141	AoSMC	blood vessel:	n/a
6	chr19:20959492-20959542	U87	brain:	n/a
7	chr19:20959100-20959150	BE2_C	brain:	n/a
8	chr19:20959492-20959542	HRPEpiC	eye:	n/a
9	chr19:20959492-20959542	AG04449	skin:	fetal
10	chr19:20959492-20959542	NT2-D1	testis:	n/a
11	chr19:20959100-20959150	Caco-2	colon:	n/a
12	chr19:20959492-20959542	Hela-S3	cervix:	n/a
13	chr19:20959492-20959542	NH-A	brain:	n/a
14	chr19:20959091-20959141	Hela-S3	cervix:	n/a
15	chr19:20959492-20959542	T-47D	breast:	n/a
16	chr19:20959100-20959150	HCF	heart:	n/a
17	chr19:20959100-20959150	HIPEpiC	eye:	n/a
18	chr19:20959100-20959150	ProgFib	skin:	n/a
19	chr19:20959492-20959542	SAEC	small airway:	n/a
20	chr19:20959492-20959542	HEK293	kidney:	embryo
21	chr19:20959091-20959141	GM12891	blood:	n/a
22	chr19:20959091-20959141	AG09319	gingival:	n/a
23	chr19:20959492-20959542	H1-hESC	embryonic stem cell:	embryo
24	chr19:20959091-20959141	MCF-7	breast:	n/a
25	chr19:20959091-20959141	CMK	blood:	n/a
26	chr19:20959100-20959150	HUVEC	blood vessel:	n/a
27	chr19:20959100-20959150	NT2-D1	testis:	n/a
28	chr19:20959492-20959542	NHDF-neo	bronchial:	n/a
29	chr19:20959492-20959542	BJ	skin:	n/a
30	chr19:20959091-20959141	Jurkat	blood:	n/a
31	chr19:20959100-20959150	HCPEpiC	choroid plexus:	n/a
32	chr19:20959492-20959542	HMEC	breast:	n/a
33	chr19:20959492-20959542	GM19239	blood:	n/a
34	chr19:20959100-20959150	RPTEC	kidney:	n/a
35	chr19:20959100-20959150	AG09309	skin:	n/a
36	chr19:20959091-20959141	HRE	kidney:	n/a
37	chr19:20959091-20959141	HPAEpiC	pulmonary alveolar:	n/a
38	chr19:20959492-20959542	NB4	blood:	n/a
39	chr19:20959091-20959141	PFSK-1	brain:	n/a
40	chr19:20959091-20959141	A549	lung:	n/a
41	chr19:20959100-20959150	SK-N-SH	brain:	n/a
42	chr19:20959091-20959141	SKMC	muscle:	n/a
43	chr19:20959091-20959141	MCF10A-Er-Src	breast:	n/a
44	chr19:20959100-20959150	GM12891	blood:	n/a
45	chr19:20959091-20959141	HUVEC	blood vessel:	n/a
46	chr19:20959100-20959150	SAEC	small airway:	n/a
47	chr19:20959091-20959141	H1-hESC	embryonic stem cell:	embryo
48	chr19:20959100-20959150	NHBE	bronchial:	n/a
49	chr19:20959100-20959150	HEEpiC	esophagus:	n/a
50	chr19:20959492-20959542	GM06990	blood:	n/a

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

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

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF85-2	chr19:21004401-21005077	ENSG00000250870
2	lnc-ZNF85-7	chr19:20957538-20959081	l_1659_chr19:20946829-20959081_testes
3	lnc-ZNF85-2	chr19:20997935-21000305	ENSG00000250870
4	lnc-ZNF85-8	chr19:20941246-20941758	NONHSAT063671
5	lnc-ZNF85-7	chr19:20946830-20947163	l_1659_chr19:20946829-20959081_testes
6	lnc-ZNF626-3	chr19:20967402-20967958	NONHSAT063672

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
ZNF66	CpG island
VN1R79P	CpG island
ENSG00000268416	CpG island
ENSG00000269040	CpG island
ENSG00000266156	CpG island
ENSG00000160229	chromatin interactions
ENSG00000269040	chromatin interactions
CCNE2	miRNA target sites
MATR3	miRNA target sites

Extended variants
information (count: 3273 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:3273 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8105489	chr19:20928849-20928850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148212565	chr19:20928873-20928874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8105584	chr19:20928914-20928915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs8105591	chr19:20928922-20928923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs8105400	chr19:20928974-20928975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs8106399	chr19:20929006-20929007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533216236	chr19:20929018-20929019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551840616	chr19:20929028-20929029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546583522	chr19:20929074-20929075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12460029	chr19:20929076-20929077	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187190121	chr19:20929146-20929147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529094704	chr19:20929215-20929216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35431492	chr19:20929239-20929240	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74182989	chr19:20929259-20929260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191902400	chr19:20929274-20929275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537569034	chr19:20929346-20929347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550927172	chr19:20929390-20929391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34597447	chr19:20929407-20929408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571164516	chr19:20929418-20929419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540076290	chr19:20929427-20929428	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146163330	chr19:20929526-20929527	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs77199401	chr19:20929527-20929528	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536088475	chr19:20929535-20929536	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs140003564	chr19:20929556-20929557	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs372750933	chr19:20929601-20929602	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs67048847	chr19:20929627-20929628	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs10419734	chr19:20929636-20929637	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577994855	chr19:20929661-20929662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs10418750	chr19:20929662-20929663	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs62106005	chr19:20929694-20929695	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34026142	chr19:20929697-20929698	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs2081891	chr19:20929702-20929703	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10419951	chr19:20929706-20929707	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185332683	chr19:20929729-20929730	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs10418445	chr19:20929738-20929739	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551190168	chr19:20929750-20929751	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs10418976	chr19:20929784-20929785	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527333710	chr19:20929818-20929819	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547255721	chr19:20929944-20929945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190260949	chr19:20929967-20929968	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs567077683	chr19:20929983-20929984	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs193229293	chr19:20929987-20929988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs35081597	chr19:20929990-20929991	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185680359	chr19:20930067-20930068	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs569479705	chr19:20930073-20930074	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs1055486	chr19:20930088-20930089	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs188242464	chr19:20930107-20930108	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs62106006	chr19:20930110-20930111	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs3195979	chr19:20930117-20930118	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577956605	chr19:20930133-20930134	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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	18451855	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:1274 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20928800-20929400	Enhancers	Ovary	ovary
2	chr19:20929400-20930800	Active TSS	Ovary	ovary
3	chr19:20930000-20930200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:20930600-20930800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr19:20930800-20931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr19:20930800-20931000	Enhancers	Ovary	ovary
7	chr19:20930800-20932400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:20931000-20932200	Weak transcription	Ovary	ovary
9	chr19:20932200-20932600	Enhancers	Ovary	ovary
10	chr19:20932200-20933200	Active TSS	Pancreas	Pancrea
11	chr19:20932400-20932600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr19:20932600-20933200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr19:20932600-20934400	Weak transcription	Ovary	ovary
14	chr19:20933000-20933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:20933200-20933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr19:20933200-20933800	Weak transcription	Pancreas	Pancrea
17	chr19:20933400-20934000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr19:20933800-20934000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:20933800-20934000	Enhancers	Pancreas	Pancrea
20	chr19:20934000-20936400	Weak transcription	Pancreas	Pancrea
21	chr19:20934400-20934600	Enhancers	Ovary	ovary
22	chr19:20934600-20935000	Weak transcription	Ovary	ovary
23	chr19:20935000-20938800	Enhancers	Ovary	ovary
24	chr19:20936800-20937000	Enhancers	Pancreas	Pancrea
25	chr19:20947000-20947400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr19:20947000-20947600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:20951600-20952600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
28	chr19:20952000-20952200	Enhancers	Pancreas	Pancrea
29	chr19:20952200-20959000	Weak transcription	Pancreas	Pancrea
30	chr19:20958600-20958800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr19:20958600-20958800	Enhancers	Dnd41	blood
32	chr19:20958600-20960000	Active TSS	Primary T cells from cord blood	blood
33	chr19:20958800-20959000	Enhancers	Primary T cells fromperipheralblood	blood
34	chr19:20958800-20959000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:20958800-20959000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:20958800-20959000	Enhancers	Stomach Smooth Muscle	stomach
37	chr19:20958800-20959000	Flanking Active TSS	Dnd41	blood
38	chr19:20958800-20959200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:20958800-20959200	Active TSS	Monocytes-CD14+_RO01746	blood
40	chr19:20958800-20959400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:20958800-20959600	Active TSS	Primary B cells from cord blood	blood
42	chr19:20958800-20959600	Active TSS	Fetal Muscle Trunk	muscle
43	chr19:20958800-20959800	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr19:20958800-20959800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr19:20958800-20959800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:20958800-20959800	Active TSS	Gastric	stomach
47	chr19:20958800-20960000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:20958800-20960000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr19:20958800-20960000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr19:20958800-20960000	Active TSS	Primary T helper cells PMA-I stimulated	--

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