Variant report

Variant	nsv1056595
Chromosome Location	chr19:20020626-20061367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:20022098-20022278	K562	blood:	n/a	n/a
2	ATF1	chr19:20022066-20022334	K562	blood:	n/a	n/a
3	ATF1	chr19:20054705-20055077	K562	blood:	n/a	n/a
4	BACH1	chr19:20046041-20046383	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr19:20045497-20045918	K562	blood:	n/a	n/a
6	BATF	chr19:20021998-20022308	GM12878	blood:	n/a	chr19:20022190-20022201 chr19:20022191-20022201
7	BATF	chr19:20022034-20022268	GM12878	blood:	n/a	chr19:20022190-20022201 chr19:20022191-20022201
8	CBX3	chr19:20044616-20045003	K562	blood:	n/a	n/a
9	CBX3	chr19:20044625-20045016	K562	blood:	n/a	n/a
10	CBX3	chr19:20041129-20041481	K562	blood:	n/a	n/a
11	CCNT2	chr19:20054515-20055058	K562	blood:	n/a	n/a
12	CEBPB	chr19:20054769-20054955	K562	blood:	n/a	n/a
13	CEBPB	chr19:20054667-20055058	K562	blood:	n/a	n/a
14	CEBPB	chr19:20054683-20055081	K562	blood:	n/a	n/a
15	CEBPD	chr19:20054674-20055126	K562	blood:	n/a	n/a
16	CEBPD	chr19:20054680-20055111	K562	blood:	n/a	n/a
17	CHD2	chr19:20044710-20045023	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr19:20045481-20045981	K562	blood:	n/a	n/a
19	CHD2	chr19:20045329-20047088	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr19:20050875-20050901	K562	blood:	n/a	n/a
21	CTCF	chr19:20041302-20041497	A549	lung:	n/a	n/a
22	CTCF	chr19:20041296-20041489	Fibrobl	skin:	n/a	n/a
23	CTCF	chr19:20041311-20041539	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr19:20041320-20041470	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:20041300-20041450	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr19:20041300-20041450	GM12874	blood:	n/a	n/a
27	CTCF	chr19:20041236-20041460	A549	lung:	n/a	n/a
28	CTCF	chr19:20041360-20041510	GM12864	blood:	n/a	n/a
29	CTCF	chr19:20041320-20041470	HMF	breast:	n/a	n/a
30	CTCF	chr19:20041300-20041450	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr19:20041340-20041505	MCF-7	breast:	n/a	n/a
32	CTCF	chr19:20041301-20041577	K562	blood:	n/a	n/a
33	CTCF	chr19:20041395-20041452	LNCaP	prostate:	n/a	n/a
34	CTCF	chr19:20041302-20041505	ProgFib	skin:	n/a	n/a
35	CTCF	chr19:20041340-20041490	HVMF	connective:	n/a	n/a
36	CTCF	chr19:20041220-20041370	GM12871	blood:	n/a	n/a
37	CTCF	chr19:20041280-20041430	GM12872	blood:	n/a	n/a
38	CTCF	chr19:20041368-20041462	GM10248	blood:	n/a	n/a
39	CTCF	chr19:20041340-20041490	GM12871	blood:	n/a	n/a
40	CTCF	chr19:20041302-20041502	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:20034119-20034233	Lung_OC	lung:	n/a	n/a
42	CTCF	chr19:20041300-20041450	GM12875	blood:	n/a	n/a
43	CTCF	chr19:20041291-20041533	GM12892	blood:	n/a	n/a
44	CTCF	chr19:20041300-20041450	AG09309	skin:	n/a	n/a
45	CTCF	chr19:20041360-20041510	HEK293	kidney:	n/a	n/a
46	CTCF	chr19:20041103-20041719	K562	blood:	n/a	n/a
47	CTCF	chr19:20041280-20041570	HMEC	breast:	n/a	n/a
48	CTCF	chr19:20041300-20041450	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr19:20041340-20041490	GM12873	blood:	n/a	n/a
50	CTCF	chr19:20041287-20041489	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:20048978..20051171-chr19:20052679..20055327,2	K562	blood:
2	chr19:19976572..19978622-chr19:20025763..20027868,3	K562	blood:
3	chr19:20012861..20014472-chr19:20018867..20021328,2	K562	blood:
4	chr19:20015522..20017242-chr19:20021366..20023292,2	MCF-7	breast:
5	chr19:20048978..20051171-chr19:20052679..20055327,2	K562	blood:
6	chr19:20010657..20013465-chr19:20046032..20047914,3	K562	blood:
7	chr19:20011096..20014012-chr19:20021090..20024486,4	K562	blood:
8	chr19:20048311..20052863-chr19:20053827..20056431,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF93-1	chr19:20042817-20043805	NONHSAT063615

No data

Variant related genes	Relation type
ENSG00000268461	TF binding region
ENSG00000256771	chromatin interactions
ENSG00000268461	chromatin interactions
ENSG00000267268	chromatin interactions
ENSG00000184635	chromatin interactions

Extended variants
information (count: 1546 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1546 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548817479	chr19:20020649-20020650	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568722249	chr19:20020756-20020757	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555027618	chr19:20020773-20020774	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117882403	chr19:20020848-20020849	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs8108528	chr19:20020876-20020877	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs141091787	chr19:20020888-20020889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201212563	chr19:20020889-20020890	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577306400	chr19:20020912-20020913	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539474549	chr19:20020947-20020948	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs181637258	chr19:20020956-20020957	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185454938	chr19:20020975-20020976	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs573270035	chr19:20020993-20020994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs202130569	chr19:20021033-20021034	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561550491	chr19:20021036-20021037	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13344370	chr19:20021046-20021047	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs544093906	chr19:20021056-20021057	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564086399	chr19:20021107-20021108	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560233250	chr19:20021192-20021193	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs568820404	chr19:20021248-20021249	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532919837	chr19:20021317-20021318	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs34576592	chr19:20021353-20021354	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs546313825	chr19:20021356-20021357	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78064675	chr19:20021358-20021359	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs142102833	chr19:20021398-20021399	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs548757839	chr19:20021424-20021425	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs35098061	chr19:20021460-20021461	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs75833362	chr19:20021461-20021462	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs79606859	chr19:20021462-20021463	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111740622	chr19:20021473-20021474	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs78525614	chr19:20021474-20021475	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs142385411	chr19:20021482-20021483	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs151175506	chr19:20021495-20021496	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12460823	chr19:20021505-20021506	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs139081605	chr19:20021571-20021572	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs568660723	chr19:20021573-20021574	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537688509	chr19:20021590-20021591	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551271301	chr19:20021620-20021621	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs571089667	chr19:20021659-20021660	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs548570483	chr19:20021692-20021693	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs11673233	chr19:20021695-20021696	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540190213	chr19:20021700-20021701	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539783672	chr19:20021754-20021755	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs74425267	chr19:20021783-20021784	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566912468	chr19:20021797-20021798	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs190710568	chr19:20021807-20021808	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs180727050	chr19:20021841-20021842	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs575096229	chr19:20021860-20021861	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs10423312	chr19:20021861-20021862	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs142050067	chr19:20021874-20021875	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577876504	chr19:20021922-20021923	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Nasopharyngeal cancer	20548289	CNVD
Schizophrenia	20967226	CNVD
Colorectal cancer	20459617	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:679 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20012600-20030000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:20012800-20034200	Weak transcription	Pancreas	Pancrea
3	chr19:20012800-20034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:20012800-20034600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:20012800-20043400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:20013000-20022600	Weak transcription	Aorta	Aorta
7	chr19:20013000-20024200	Weak transcription	Ovary	ovary
8	chr19:20013000-20034000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:20013000-20034600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:20013000-20034600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:20013000-20035200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:20013000-20039600	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:20013200-20021800	Weak transcription	Fetal Heart	heart
14	chr19:20013200-20026000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:20013200-20026200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr19:20013200-20027400	Weak transcription	HSMMtube	muscle
17	chr19:20013200-20027600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr19:20013200-20028600	Weak transcription	Adipose Nuclei	Adipose
19	chr19:20013200-20028800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr19:20013200-20034600	Weak transcription	Primary T cells from cord blood	blood
21	chr19:20013200-20043600	Weak transcription	Fetal Brain Male	brain
22	chr19:20013400-20021000	Weak transcription	Left Ventricle	heart
23	chr19:20013400-20027400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:20013400-20033600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr19:20013400-20034000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:20013400-20034000	Weak transcription	Placenta	Placenta
27	chr19:20013400-20034200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr19:20013400-20035800	Weak transcription	Osteobl	bone
29	chr19:20014000-20028800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:20014000-20032600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:20014400-20027600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:20014800-20027000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:20014800-20034000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:20015400-20021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:20015800-20024400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr19:20015800-20033400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr19:20016000-20020800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:20016000-20034200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:20016000-20034800	Weak transcription	K562	blood
40	chr19:20016400-20034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:20016600-20033400	Weak transcription	Thymus	Thymus
42	chr19:20016800-20028800	ZNF genes & repeats	Dnd41	blood
43	chr19:20016800-20034000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:20017000-20022400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr19:20017400-20024800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr19:20018200-20022000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr19:20018200-20025000	Weak transcription	Fetal Lung	lung
48	chr19:20018200-20025400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr19:20018400-20020800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:20018400-20020800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

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