Variant report

Variant	nsv578944
Chromosome Location	chr19:20946275-21048883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:503)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:503 , 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	chr19:21032836-21033000	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
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	BATF	chr19:21032838-21032997	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
7	BCL11A	chr19:20970637-20970914	GM12878	blood:	n/a	chr19:20970859-20970868 chr19:20970860-20970869
8	BHLHE40	chr19:20958960-20959285	GM12878	blood:	n/a	n/a
9	BRCA1	chr19:20959419-20959438	HepG2	liver:	n/a	n/a
10	BRCA1	chr19:20959318-20959498	GM12878	blood:	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	chr19:20959134-20959334	GM12878	blood:	n/a	n/a
14	CHD1	chr19:20959194-20959482	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr19:21041146-21041568	H1-hESC	embryonic stem cell:	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	CHD2	chr19:20958856-20959221	K562	blood:	n/a	n/a
20	CHD2	chr19:20958912-20959333	HepG2	liver:	n/a	n/a
21	CTCF	chr19:21032872-21032964	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr19:21026021-21026075	GM20000	blood:	n/a	n/a
23	CTCF	chr19:20959198-20959259	GM10266	blood:	n/a	n/a
24	CTCF	chr19:21031926-21031979	GM13976	blood:	n/a	n/a
25	CTCF	chr19:20952040-20952190	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr19:20947464-20947563	GM20000	blood:	n/a	n/a
27	CTCF	chr19:20952335-20952338	LNCaP	prostate:	n/a	n/a
28	CTCF	chr19:20990596-20990708	ProgFib	skin:	n/a	n/a
29	CTCF	chr19:20952282-20952330	LNCaP	prostate:	n/a	n/a
30	CTCF	chr19:20954123-20954233	Lung_OC	lung:	n/a	n/a
31	CTCF	chr19:20959000-20959150	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr19:21039315-21039388	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr19:20984469-20984553	Lung_OC	lung:	n/a	n/a
34	CTCF	chr19:20952195-20952236	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr19:20970376-20970408	Lung_OC	lung:	n/a	n/a
36	CTCF	chr19:20952210-20952285	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr19:20959263-20959508	GM12878	blood:	n/a	n/a
38	CTCF	chr19:20972690-20972738	Lung_OC	lung:	n/a	n/a
39	CTCF	chr19:20959364-20959425	Lung_OC	lung:	n/a	n/a
40	CTCF	chr19:20959340-20959490	HMEC	breast:	n/a	n/a
41	CTCF	chr19:21013807-21013875	Fibrobl	skin:	n/a	n/a
42	CTCF	chr19:21032029-21032088	LNCaP	prostate:	n/a	n/a
43	CTCF	chr19:20985694-20985713	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr19:20989905-20989922	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr19:20946772-20946828	GM13976	blood:	n/a	n/a
46	CTCF	chr19:21044720-21044870	HepG2	liver:	n/a	n/a
47	CTCF	chr19:20949612-20949723	GM13976	blood:	n/a	n/a
48	CTCF	chr19:20959260-20959410	HepG2	liver:	n/a	n/a
49	CTCF	chr19:21022916-21022919	Medullo	brain:	n/a	n/a
50	CTCF	chr19:20958872-20959075	Spleen_OC	spleen:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:20959100-20959150	Hela-S3	cervix:	n/a
2	chr19:20959492-20959542	SK-N-MC	brain:	n/a
3	chr19:20959492-20959542	HEEpiC	esophagus:	n/a
4	chr19:20959091-20959141	NT2-D1	testis:	n/a
5	chr19:20959091-20959141	HCM	heart:	n/a
6	chr19:20959091-20959141	PANC-1	pancreas:	n/a
7	chr19:20959100-20959150	BJ	skin:	n/a
8	chr19:20959492-20959542	PrEC	prostate:	n/a
9	chr19:20959492-20959542	GM12892	blood:	n/a
10	chr19:20959492-20959542	HUVEC	blood vessel:	n/a
11	chr19:20959492-20959542	HEK293	kidney:	embryo
12	chr19:20959091-20959141	AG04449	skin:	fetal
13	chr19:20959100-20959150	BE2_C	brain:	n/a
14	chr19:20959100-20959150	NB4	blood:	n/a
15	chr19:20959100-20959150	SK-N-MC	brain:	n/a
16	chr19:20959100-20959150	HPAEpiC	pulmonary alveolar:	n/a
17	chr19:20959492-20959542	HCT-116	colon:	n/a
18	chr19:20959091-20959141	AG09309	skin:	n/a
19	chr19:20959100-20959150	HRE	kidney:	n/a
20	chr19:20959100-20959150	SKMC	muscle:	n/a
21	chr19:20959492-20959542	Hela-S3	cervix:	n/a
22	chr19:20959492-20959542	SKMC	muscle:	n/a
23	chr19:20959492-20959542	GM19239	blood:	n/a
24	chr19:20959100-20959150	SK-N-SH_RA	brain:	n/a
25	chr19:20959100-20959150	AG04449	skin:	fetal
26	chr19:20959091-20959141	ovcar-3	ovarian:	n/a
27	chr19:20959492-20959542	T-47D	breast:	n/a
28	chr19:20959091-20959141	PrEC	prostate:	n/a
29	chr19:20959492-20959542	Caco-2	colon:	n/a
30	chr19:20959492-20959542	HRCEpiC	kidney:	n/a
31	chr19:20959100-20959150	K562	blood:	n/a
32	chr19:20959100-20959150	AG04450	lung:	fetal
33	chr19:20959100-20959150	HAEpiC	amniotic membrane:	n/a
34	chr19:20959492-20959542	HepG2	liver:	n/a
35	chr19:20959100-20959150	GM19239	blood:	n/a
36	chr19:20959100-20959150	GM12891	blood:	n/a
37	chr19:20959100-20959150	GM06990	blood:	n/a
38	chr19:20959492-20959542	AG10803	skin:	n/a
39	chr19:20959091-20959141	IMR90	lung:	fetal
40	chr19:20959100-20959150	CMK	blood:	n/a
41	chr19:20959091-20959141	ECC-1	luminal epithelium:	n/a
42	chr19:20959492-20959542	CMK	blood:	n/a
43	chr19:20959492-20959542	K562	blood:	n/a
44	chr19:20959492-20959542	HAEpiC	amniotic membrane:	n/a
45	chr19:20959100-20959150	HCT-116	colon:	n/a
46	chr19:20959100-20959150	Hepatocyte	liver:	n/a
47	chr19:20959100-20959150	HEK293	kidney:	embryo
48	chr19:20959091-20959141	SK-N-SH	brain:	n/a
49	chr19:20959492-20959542	ovcar-3	ovarian:	n/a
50	chr19:20959091-20959141	MCF-7	breast:	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:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF626-4	chr19:21030087-21030223	NONHSAT063675
2	lnc-ZNF85-2	chr19:20997935-21000305	ENSG00000250870
3	lnc-ZNF626-4	chr19:21022210-21022336	NONHSAT063675
4	lnc-ZNF85-7	chr19:20946830-20947163	l_1659_chr19:20946829-20959081_testes
5	lnc-ZNF85-7	chr19:20957538-20959081	l_1659_chr19:20946829-20959081_testes
6	lnc-ZNF626-3	chr19:20967402-20967958	NONHSAT063672
7	lnc-ZNF626-4	chr19:21021321-21021373	NONHSAT063675
8	lnc-ZNF85-2	chr19:21004401-21005077	ENSG00000250870

No data

Variant related genes	Relation type
ZNF66	TF binding region
ENSG00000269373	TF binding region
ENSG00000269040	TF binding region
ENSG00000266156	TF binding region
ZNF66	CpG island
ENSG00000269373	CpG island
ENSG00000269040	CpG island
ENSG00000266156	CpG island
ENSG00000269040	chromatin interactions
ENSG00000160229	chromatin interactions
CCNE2	miRNA target sites
MATR3	miRNA target sites

Extended variants
information (count: 3989 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:3989 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373964670	chr19:20946832-20946833	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs181154398	chr19:20946844-20946845	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs573637375	chr19:20946845-20946846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs373598360	chr19:20946851-20946852	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs77973240	chr19:20946864-20946865	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs142739270	chr19:20946898-20946899	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs184935188	chr19:20946911-20946912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs2162791	chr19:20946935-20946936	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs137989603	chr19:20946962-20946963	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs564742465	chr19:20946964-20946965	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs75216760	chr19:20946966-20946967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs189814534	chr19:20946967-20946968	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs182191684	chr19:20946983-20946984	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs377291833	chr19:20947007-20947008	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs560569042	chr19:20947020-20947021	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373783272	chr19:20947021-20947022	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs368673838	chr19:20947023-20947024	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs371832613	chr19:20947037-20947038	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs552286488	chr19:20947040-20947041	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs76907778	chr19:20947060-20947061	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs549099535	chr19:20947104-20947105	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs2115092	chr19:20947168-20947169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs531568312	chr19:20947178-20947179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551375092	chr19:20947186-20947187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571476283	chr19:20947219-20947220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533850462	chr19:20947221-20947222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547568301	chr19:20947232-20947233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34717151	chr19:20947296-20947297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567391007	chr19:20947323-20947324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146657674	chr19:20947324-20947325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149331291	chr19:20947325-20947326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201099250	chr19:20947350-20947351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374071670	chr19:20947362-20947363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9917078	chr19:20947367-20947368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145193816	chr19:20947381-20947382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536339710	chr19:20947390-20947391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187157655	chr19:20947474-20947475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371137096	chr19:20947505-20947506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375066956	chr19:20947531-20947532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538604261	chr19:20947568-20947569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534808276	chr19:20947579-20947580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115567615	chr19:20947586-20947587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143581203	chr19:20951603-20951604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs10423936	chr19:20951613-20951614	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140000227	chr19:20951616-20951617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538667069	chr19:20951617-20951618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183331915	chr19:20951627-20951628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs12982946	chr19:20951673-20951674	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565717360	chr19:20951711-20951712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534826731	chr19:20951713-20951714	ZNF genes & repeats	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1280 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20947000-20947400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr19:20947000-20947600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:20951600-20952600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
4	chr19:20952000-20952200	Enhancers	Pancreas	Pancrea
5	chr19:20952200-20959000	Weak transcription	Pancreas	Pancrea
6	chr19:20958600-20958800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr19:20958600-20958800	Enhancers	Dnd41	blood
8	chr19:20958600-20960000	Active TSS	Primary T cells from cord blood	blood
9	chr19:20958800-20959000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:20958800-20959000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:20958800-20959000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:20958800-20959000	Enhancers	Stomach Smooth Muscle	stomach
13	chr19:20958800-20959000	Flanking Active TSS	Dnd41	blood
14	chr19:20958800-20959200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:20958800-20959200	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr19:20958800-20959400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:20958800-20959600	Active TSS	Primary B cells from cord blood	blood
18	chr19:20958800-20959600	Active TSS	Fetal Muscle Trunk	muscle
19	chr19:20958800-20959800	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr19:20958800-20959800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr19:20958800-20959800	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr19:20958800-20959800	Active TSS	Gastric	stomach
23	chr19:20958800-20960000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:20958800-20960000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:20958800-20960000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:20958800-20960000	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr19:20958800-20960000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:20958800-20960000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:20958800-20960000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:20958800-20960000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:20958800-20960000	Active TSS	Brain Angular Gyrus	brain
32	chr19:20958800-20960000	Active TSS	Brain Anterior Caudate	brain
33	chr19:20958800-20960000	Active TSS	Brain Cingulate Gyrus	brain
34	chr19:20958800-20960000	Active TSS	Brain Hippocampus Middle	brain
35	chr19:20958800-20960000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr19:20958800-20960000	Active TSS	Duodenum Mucosa	Duodenum
37	chr19:20958800-20960000	Active TSS	Fetal Lung	lung
38	chr19:20958800-20960000	Active TSS	HSMM	muscle
39	chr19:20958800-20960000	Active TSS	NHEK	skin
40	chr19:20958800-20960200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:20958800-20960200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr19:20958800-20960200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr19:20958800-20960200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:20958800-20960200	Active TSS	Brain Germinal Matrix	brain
45	chr19:20958800-20960200	Active TSS	Fetal Kidney	kidney
46	chr19:20958800-20960200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:20958800-20960200	Active TSS	Thymus	Thymus
48	chr19:20958800-20960200	Active TSS	NH-A	brain
49	chr19:20958800-20960200	Active TSS	NHLF	lung
50	chr19:20958800-20960200	Active TSS	Osteobl	bone

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