Variant report

Variant	nsv578945
Chromosome Location	chr19:20980958-21041350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:21032838-21032997	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
2	BATF	chr19:21032836-21033000	GM12878	blood:	n/a	chr19:21032899-21032910 chr19:21032904-21032914
3	CHD1	chr19:21041146-21041568	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr19:20990596-20990708	ProgFib	skin:	n/a	n/a
5	CTCF	chr19:21032029-21032088	LNCaP	prostate:	n/a	n/a
6	CTCF	chr19:21013807-21013875	Fibrobl	skin:	n/a	n/a
7	CTCF	chr19:20984469-20984553	Lung_OC	lung:	n/a	n/a
8	CTCF	chr19:21022916-21022919	Medullo	brain:	n/a	n/a
9	CTCF	chr19:21026021-21026075	GM20000	blood:	n/a	n/a
10	CTCF	chr19:21039315-21039388	Kidney_OC	kidney:	n/a	n/a
11	CTCF	chr19:21031926-21031979	GM13976	blood:	n/a	n/a
12	CTCF	chr19:21032872-21032964	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr19:20989905-20989922	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr19:20985694-20985713	Spleen_OC	spleen:	n/a	n/a
15	CTCF	chr19:21013820-21013970	GM12875	blood:	n/a	n/a
16	E2F6	chr19:20996621-20997009	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr19:21041097-21041449	H1-hESC	embryonic stem cell:	n/a	n/a
18	FOS	chr19:21023226-21023558	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr19:21023243-21023537	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr19:21023327-21023443	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr19:21023158-21023570	MCF10A-Er-Src	breast:	n/a	n/a
22	FOXA1	chr19:20990832-20991102	HepG2	liver:	n/a	n/a
23	FOXA2	chr19:21024085-21024489	A549	lung:	n/a	n/a
24	FOXA2	chr19:20990782-20991253	A549	lung:	n/a	n/a
25	GTF2F1	chr19:20991321-20991362	H1-hESC	embryonic stem cell:	n/a	n/a
26	GTF2F1	chr19:21040910-21041110	H1-hESC	embryonic stem cell:	n/a	n/a
27	GTF2F1	chr19:20989442-20990714	H1-hESC	embryonic stem cell:	n/a	n/a
28	JUN	chr19:20984840-20984849	H1-hESC	embryonic stem cell:	n/a	n/a
29	JUND	chr19:21041092-21041512	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUND	chr19:21023253-21023472	HepG2	liver:	n/a	chr19:21023345-21023356 chr19:21023398-21023409
31	KAP1	chr19:20988869-20990162	HEK293	kidney:	n/a	n/a
32	KAP1	chr19:20989348-20989999	U2OS	brain:	n/a	n/a
33	KAP1	chr19:20988845-20989782	K562	blood:	n/a	n/a
34	KAT2A	chr19:21037090-21037456	GM12878	blood:	n/a	n/a
35	MAFF	chr19:21016269-21016491	HepG2	liver:	n/a	n/a
36	MAFK	chr19:21016241-21016496	IMR90	lung:	n/a	n/a
37	MAFK	chr19:21016210-21016514	HepG2	liver:	n/a	n/a
38	MAFK	chr19:21016258-21016482	HepG2	liver:	n/a	n/a
39	MAX	chr19:21040951-21041254	H1-hESC	embryonic stem cell:	n/a	n/a
40	MXI1	chr19:21041034-21041055	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYC	chr19:21035245-21035274	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:20984386-20984455	MCF-7	breast:	n/a	n/a
43	POLR2A	chr19:21033413-21033519	K562	blood:	n/a	n/a
44	POLR2A	chr19:21015149-21015220	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:20998399-20998565	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:20990505-20990772	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:21003052-21003059	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:20989906-20990070	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:21001489-21001528	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:20989521-20989552	MCF-7	breast:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF626-4	chr19:21022210-21022336	NONHSAT063675
2	lnc-ZNF85-2	chr19:21004401-21005077	ENSG00000250870
3	lnc-ZNF626-4	chr19:21030087-21030223	NONHSAT063675
4	lnc-ZNF626-4	chr19:21021321-21021373	NONHSAT063675
5	lnc-ZNF85-2	chr19:20997935-21000305	ENSG00000250870

No data

Variant related genes	Relation type
ENSG00000269373	TF binding region
ENSG00000266156	TF binding region
MATR3	miRNA target sites
CCNE2	miRNA target sites

Extended variants
information (count: 2435 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:2435 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs399686	chr19:20980958-20980959	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs191538387	chr19:20980991-20980992	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4026025	chr19:20981050-20981051	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368931347	chr19:20981051-20981052	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3853665	chr19:20981077-20981078	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs540169387	chr19:20981089-20981090	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537256277	chr19:20981093-20981094	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201802548	chr19:20981097-20981098	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557417518	chr19:20981109-20981110	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139129681	chr19:20981127-20981128	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs74510899	chr19:20981128-20981129	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs549734961	chr19:20981189-20981190	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370101261	chr19:20981230-20981231	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4389267	chr19:20981237-20981238	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs541675658	chr19:20981264-20981265	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532682040	chr19:20981281-20981282	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552387785	chr19:20981297-20981298	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs67143565	chr19:20981362-20981363	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs381831	chr19:20981383-20981384	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544127865	chr19:20981386-20981387	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183090000	chr19:20981402-20981403	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555320471	chr19:20981424-20981425	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533092141	chr19:20981465-20981466	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143157803	chr19:20981558-20981559	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376306087	chr19:20981564-20981565	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61520244	chr19:20981632-20981633	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs532902060	chr19:20981652-20981653	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537721483	chr19:20981689-20981690	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560160569	chr19:20981694-20981695	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs380432	chr19:20981726-20981727	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs427017	chr19:20981731-20981732	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs379677	chr19:20981739-20981740	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs537647186	chr19:20981780-20981781	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186832788	chr19:20981781-20981782	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373891173	chr19:20981783-20981784	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571042265	chr19:20981793-20981794	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147450920	chr19:20981809-20981810	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139905286	chr19:20981810-20981811	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190673273	chr19:20981826-20981827	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35169741	chr19:20981841-20981842	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376653324	chr19:20981853-20981854	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572864970	chr19:20981859-20981860	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11673538	chr19:20981861-20981862	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202208467	chr19:20981863-20981864	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374547894	chr19:20981867-20981868	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373482866	chr19:20981868-20981869	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74172370	chr19:20981871-20981872	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555634302	chr19:20981875-20981876	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10426050	chr19:20981877-20981878	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111257540	chr19:20981884-20981885	ZNF genes & repeats Strong transcription Weak transcription	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:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:20960000-20983800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:20960000-20987600	Weak transcription	Brain Substantia Nigra	brain
3	chr19:20960000-20987800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:20960200-20987200	Weak transcription	Colon Smooth Muscle	Colon
5	chr19:20960200-20990400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:20961200-20989600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:20966400-20985400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:20969600-20981000	Weak transcription	Psoas Muscle	Psoas
9	chr19:20974800-20992000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:20975200-20982200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:20975200-20983600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
12	chr19:20975200-20983600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr19:20975200-20984800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:20975200-20989400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
15	chr19:20975200-20992000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr19:20975400-20982000	Weak transcription	Brain Anterior Caudate	brain
17	chr19:20975600-20981600	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr19:20975600-20984400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:20975600-20984800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr19:20975600-20985400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr19:20975600-20989200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:20975800-20981200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:20976200-20982800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:20976200-20983400	ZNF genes & repeats	Thymus	Thymus
25	chr19:20976200-20983600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr19:20976400-20985000	ZNF genes & repeats	Fetal Lung	lung
27	chr19:20976600-20981200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:20976600-20981600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr19:20976600-20981800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr19:20976600-20990800	ZNF genes & repeats	Dnd41	blood
31	chr19:20976800-20990800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr19:20977000-20983400	Weak transcription	NHDF-Ad	bronchial
33	chr19:20977000-20991200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
34	chr19:20977600-20981400	ZNF genes & repeats	Fetal Stomach	stomach
35	chr19:20977600-20981600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr19:20977600-20983200	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr19:20977600-20983400	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr19:20977600-20983600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr19:20977600-20991000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr19:20977800-20983200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:20977800-20983200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:20977800-20983400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:20977800-20983600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr19:20977800-20984400	ZNF genes & repeats	Fetal Brain Female	brain
45	chr19:20977800-20990200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
46	chr19:20978000-20981600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
47	chr19:20978200-20984800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:20978400-20985000	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr19:20978400-20991200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr19:20978600-20982400	Strong transcription	Ovary	ovary

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