Variant report

Variant	nsv961198
Chromosome Location	chr19:22461433-22487797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:305)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22466292-22466341	GM13977	blood:	n/a	n/a
2	CTCF	chr19:22467421-22467490	GM20000	blood:	n/a	n/a
3	CTCF	chr19:22465392-22465520	GM20000	blood:	n/a	n/a
4	GATA2	chr19:22468948-22469278	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr19:22468909-22469330	T-47D	breast:	n/a	n/a
6	GATA3	chr19:22468905-22469418	T-47D	breast:	n/a	n/a
7	JUND	chr19:22484779-22485027	HepG2	liver:	n/a	chr19:22484902-22484910 chr19:22484900-22484911 chr19:22484900-22484912 chr19:22484901-22484911 chr19:22484903-22484910 chr19:22484902-22484911
8	MAFK	chr19:22467672-22467796	HepG2	liver:	n/a	n/a
9	MYC	chr19:22482835-22482925	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFYB	chr19:22468990-22469337	K562	blood:	n/a	chr19:22469135-22469148 chr19:22469135-22469149 chr19:22469137-22469147
11	NFYB	chr19:22469086-22469282	GM12878	blood:	n/a	chr19:22469135-22469148 chr19:22469135-22469149 chr19:22469137-22469147
12	NFYB	chr19:22484517-22484810	GM12878	blood:	n/a	chr19:22484664-22484677
13	POLR2A	chr19:22462571-22462597	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr19:22482611-22482712	A549	lung:	n/a	n/a
15	POLR2A	chr19:22469268-22469430	GM12891	blood:	n/a	n/a
16	POLR2A	chr19:22469234-22469457	GM12892	blood:	n/a	n/a
17	POLR2A	chr19:22469113-22469562	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:22469563-22469576	MCF-7	breast:	n/a	n/a
19	POLR2A	chr19:22479940-22480102	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr19:22469288-22469400	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr19:22469284-22469411	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr19:22463354-22463454	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr19:22485091-22485297	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr19:22475251-22475334	MCF-7	breast:	n/a	n/a
25	POLR2A	chr19:22484910-22484935	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:22469266-22469410	GM12891	blood:	n/a	n/a
27	REST	chr19:22476708-22476758	PANC-1	pancreas:	n/a	n/a
28	SPI1	chr19:22472450-22472734	HL-60	blood:	n/a	chr19:22472550-22472559 chr19:22472548-22472561 chr19:22472549-22472562
29	SPI1	chr19:22472471-22472593	K562	blood:	n/a	chr19:22472550-22472559 chr19:22472548-22472561 chr19:22472549-22472562
30	SRF	chr19:22481312-22481438	GM12878	blood:	n/a	n/a
31	TAF1	chr19:22469183-22469438	H1-hESC	embryonic stem cell:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22469533-22469583	AoSMC	blood vessel:	n/a
2	chr19:22469533-22469583	GM12878	blood:	n/a
3	chr19:22469223-22469273	HAEpiC	amniotic membrane:	n/a
4	chr19:22469368-22469418	HCF	heart:	n/a
5	chr19:22469860-22469910	GM12878	blood:	n/a
6	chr19:22469223-22469273	GM12892	blood:	n/a
7	chr19:22466877-22466927	AG04449	skin:	fetal
8	chr19:22469223-22469273	Hela-S3	cervix:	n/a
9	chr19:22469533-22469583	HCM	heart:	n/a
10	chr19:22466877-22466927	HCT-116	colon:	n/a
11	chr19:22469368-22469418	PANC-1	pancreas:	n/a
12	chr19:22469368-22469418	BJ	skin:	n/a
13	chr19:22466877-22466927	SK-N-MC	brain:	n/a
14	chr19:22469860-22469910	HCT-116	colon:	n/a
15	chr19:22469223-22469273	Hepatocyte	liver:	n/a
16	chr19:22466877-22466927	HL-60	blood:	n/a
17	chr19:22469368-22469418	HUVEC	blood vessel:	n/a
18	chr19:22469860-22469910	HRCEpiC	kidney:	n/a
19	chr19:22469533-22469583	IMR90	lung:	fetal
20	chr19:22469533-22469583	PANC-1	pancreas:	n/a
21	chr19:22469368-22469418	CMK	blood:	n/a
22	chr19:22469368-22469418	SAEC	small airway:	n/a
23	chr19:22466877-22466927	HCF	heart:	n/a
24	chr19:22469860-22469910	HL-60	blood:	n/a
25	chr19:22469223-22469273	PFSK-1	brain:	n/a
26	chr19:22469368-22469418	NH-A	brain:	n/a
27	chr19:22469860-22469910	GM06990	blood:	n/a
28	chr19:22469368-22469418	Hepatocyte	liver:	n/a
29	chr19:22469223-22469273	BE2_C	brain:	n/a
30	chr19:22469368-22469418	LNCaP	prostate:	n/a
31	chr19:22469533-22469583	AG09309	skin:	n/a
32	chr19:22469368-22469418	HRE	kidney:	n/a
33	chr19:22466877-22466927	GM12878	blood:	n/a
34	chr19:22469533-22469583	PrEC	prostate:	n/a
35	chr19:22469533-22469583	GM19239	blood:	n/a
36	chr19:22469860-22469910	Hepatocyte	liver:	n/a
37	chr19:22469533-22469583	U87	brain:	n/a
38	chr19:22466877-22466927	AoSMC	blood vessel:	n/a
39	chr19:22469368-22469418	SK-N-SH_RA	brain:	n/a
40	chr19:22466877-22466927	HRPEpiC	eye:	n/a
41	chr19:22469368-22469418	HRPEpiC	eye:	n/a
42	chr19:22466877-22466927	HMEC	breast:	n/a
43	chr19:22469533-22469583	HAEpiC	amniotic membrane:	n/a
44	chr19:22469533-22469583	HCPEpiC	choroid plexus:	n/a
45	chr19:22469368-22469418	HEK293	kidney:	embryo
46	chr19:22469860-22469910	MCF-7	breast:	n/a
47	chr19:22466877-22466927	ECC-1	luminal epithelium:	n/a
48	chr19:22469860-22469910	HIPEpiC	eye:	n/a
49	chr19:22466877-22466927	LNCaP	prostate:	n/a
50	chr19:22469223-22469273	AG10803	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF98-8	chr19:22482336-22482670	NONHSAT063779
2	lnc-ZNF729-1	chr19:22467343-22467809	XLOC_013011
3	lnc-ZNF98-8	chr19:22481779-22482009	NONHSAT063779

No data

Variant related genes	Relation type
ZNF729	TF binding region
ENSG00000270191	TF binding region
ZNF729	CpG island
ENSG00000270191	CpG island
PQBP1	miRNA target sites

Extended variants
information (count: 169 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531978993	chr19:22465394-22465395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs544304774	chr19:22465414-22465415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562418341	chr19:22465428-22465429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs142658317	chr19:22465467-22465468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113759458	chr19:22465492-22465493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs116857392	chr19:22465510-22465511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547850183	chr19:22465512-22465513	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs537792799	chr19:22466298-22466299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377078466	chr19:22466340-22466341	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs191514129	chr19:22466878-22466879	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs191031220	chr19:22467347-22467348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs118161378	chr19:22467370-22467371	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs146065210	chr19:22467427-22467428	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs182113633	chr19:22467451-22467452	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs4085563	chr19:22467472-22467473	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs549124453	chr19:22467484-22467485	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs567907954	chr19:22467509-22467510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs535009511	chr19:22467524-22467525	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs563454043	chr19:22467530-22467531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs73922860	chr19:22467547-22467548	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1852425	chr19:22467549-22467550	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs112778286	chr19:22467575-22467576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs111685365	chr19:22467591-22467592	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs557459754	chr19:22467634-22467635	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576080011	chr19:22467641-22467642	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs373668075	chr19:22467657-22467658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs546332984	chr19:22467668-22467669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs543373904	chr19:22467747-22467748	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs566105105	chr19:22467759-22467760	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs534563575	chr19:22468814-22468815	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112405385	chr19:22468863-22468864	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113140998	chr19:22468903-22468904	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547789779	chr19:22468938-22468939	Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs557109213	chr19:22468947-22468948	Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575383079	chr19:22468969-22468970	Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs111980271	chr19:22468993-22468994	Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs554739030	chr19:22468999-22469000	Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573017627	chr19:22469021-22469022	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540195985	chr19:22469023-22469024	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs452556	chr19:22469057-22469058	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs112737688	chr19:22469058-22469059	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544623009	chr19:22469065-22469066	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs12610423	chr19:22469066-22469067	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs1902438	chr19:22469090-22469091	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12980722	chr19:22469093-22469094	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs12982528	chr19:22469100-22469101	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs12980532	chr19:22469108-22469109	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548777341	chr19:22469109-22469110	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs567328306	chr19:22469148-22469149	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs528196998	chr19:22469164-22469165	ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22468800-22469600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
2	chr19:22469000-22469600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:22469000-22469600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr19:22469000-22469600	ZNF genes & repeats	Aorta	Aorta
5	chr19:22469000-22469600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
6	chr19:22469000-22469600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
7	chr19:22469000-22469600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:22469000-22469600	Active TSS	Fetal Kidney	kidney
9	chr19:22469000-22469600	ZNF genes & repeats	Pancreas	Pancrea
10	chr19:22469000-22469800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:22469000-22469800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:22469000-22469800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:22469000-22469800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr19:22469000-22469800	ZNF genes & repeats	Liver	Liver
15	chr19:22469000-22469800	ZNF genes & repeats	Right Atrium	heart
16	chr19:22469000-22470000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
17	chr19:22469200-22469400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr19:22469200-22469400	Bivalent/Poised TSS	Right Ventricle	heart
19	chr19:22469200-22469600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:22469200-22469600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
21	chr19:22469200-22469600	ZNF genes & repeats	Esophagus	oesophagus
22	chr19:22469200-22469600	Bivalent/Poised TSS	Left Ventricle	heart
23	chr19:22469200-22469600	Active TSS	Rectal Smooth Muscle	rectum
24	chr19:22469200-22469800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:22469200-22469800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
26	chr19:22469400-22469600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr19:22469400-22469600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
28	chr19:22469600-22469800	Active TSS	Right Ventricle	heart

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