Variant report

Variant	nsv960814
Chromosome Location	chr19:22779349-22787107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22786780-22786930	WERI-Rb-1	eye:	n/a	n/a
2	CTCF	chr19:22784360-22784510	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr19:22786720-22786870	WERI-Rb-1	eye:	n/a	n/a
4	CTCF	chr19:22785540-22785690	NB4	blood:	n/a	n/a
5	CTCF	chr19:22785900-22786050	HEK293	kidney:	n/a	chr19:22785943-22785956
6	CTCF	chr19:22785900-22786050	WERI-Rb-1	eye:	n/a	chr19:22785943-22785956
7	CTCF	chr19:22784340-22784490	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr19:22785500-22785650	WERI-Rb-1	eye:	n/a	n/a
9	CTCF	chr19:22784380-22784530	HCFaa	heart:	n/a	n/a
10	CTCF	chr19:22785860-22786010	WERI-Rb-1	eye:	n/a	chr19:22785943-22785956
11	CTCF	chr19:22784340-22784490	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr19:22784300-22784450	HEK293	kidney:	n/a	n/a
13	MAX	chr19:22783059-22783628	NB4	blood:	n/a	chr19:22783233-22783242 chr19:22783231-22783244 chr19:22783233-22783243 chr19:22783232-22783243 chr19:22783232-22783242 chr19:22783233-22783242 chr19:22783210-22783219 chr19:22783232-22783243 chr19:22783233-22783243 chr19:22783234-22783241 chr19:22783231-22783244 chr19:22783232-22783243
14	POLR2A	chr19:22784965-22785024	Gliobla	brain:	n/a	n/a
15	USF1	chr19:22783923-22784041	HepG2	liver:	n/a	n/a
16	ZNF143	chr19:22785575-22785608	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF492-6	chr19:22784247-22784539	NONHSAT063806

Variant related genes	Relation type
ENSG00000221790	TF binding region
RN7SL860P	TF binding region
ENSG00000269025	TF binding region
ENSG00000268823	TF binding region
ENSG00000271149	TF binding region

Extended variants
information (count: 363 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:363 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79999564	chr19:22779361-22779362	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs12609347	chr19:22779369-22779370	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180804538	chr19:22779372-22779373	ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568925402	chr19:22779406-22779407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535915692	chr19:22779522-22779523	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144374225	chr19:22779586-22779587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147804024	chr19:22779642-22779643	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs116678599	chr19:22779659-22779660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558408258	chr19:22779689-22779690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7255099	chr19:22779695-22779696	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs565228704	chr19:22779699-22779700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs73924283	chr19:22779707-22779708	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1821277	chr19:22779725-22779726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs541546867	chr19:22779733-22779734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs185510406	chr19:22779775-22779776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs561219764	chr19:22779776-22779777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574826037	chr19:22779791-22779792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541870933	chr19:22779803-22779804	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2035765	chr19:22779873-22779874	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs74499028	chr19:22779892-22779893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs552934152	chr19:22779901-22779902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371922648	chr19:22779917-22779918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564756409	chr19:22779923-22779924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs531983317	chr19:22779967-22779968	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs375319102	chr19:22780017-22780018	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs190991777	chr19:22780066-22780067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs568863404	chr19:22780097-22780098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs564044805	chr19:22780163-22780164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529761666	chr19:22780164-22780165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs555256872	chr19:22780197-22780198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs11085537	chr19:22780200-22780201	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs376845111	chr19:22780228-22780229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182056841	chr19:22780243-22780244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs574906572	chr19:22780256-22780257	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148837760	chr19:22780291-22780292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4933010	chr19:22780327-22780328	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs570409221	chr19:22780339-22780340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs537650303	chr19:22780341-22780342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs143450029	chr19:22780417-22780418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs4933011	chr19:22780443-22780444	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375274715	chr19:22780476-22780477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115925620	chr19:22780495-22780496	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553955979	chr19:22780501-22780502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547359317	chr19:22780517-22780518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs112691129	chr19:22780549-22780550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373247432	chr19:22780559-22780560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534376326	chr19:22780625-22780626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570435565	chr19:22780756-22780757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs116277028	chr19:22780777-22780778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377204555	chr19:22780786-22780787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22778200-22779400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr19:22778200-22793800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr19:22778400-22779400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:22779000-22779400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
5	chr19:22779000-22779400	Enhancers	Right Atrium	heart
6	chr19:22779200-22779400	Flanking Active TSS	Ovary	ovary
7	chr19:22779600-22780000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr19:22781800-22784200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:22782000-22786200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:22782200-22788000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr19:22782800-22786400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr19:22785400-22785600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
13	chr19:22785600-22786200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr19:22785600-22786200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:22786400-22786800	ZNF genes & repeats	Gastric	stomach
16	chr19:22786600-22786800	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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