Variant report

Variant	nsv9681
Chromosome Location	chr19:22708724-22716078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22715250-22715331	Pancreas_OC	pancreas:	n/a	n/a
2	CTCF	chr19:22714484-22714540	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr19:22715242-22715334	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr19:22715293-22715296	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:22715180-22715330	HEK293	kidney:	n/a	n/a
6	HEY1	chr19:22715562-22715830	K562	blood:	n/a	n/a
7	POLR2A	chr19:22715663-22715789	GM12891	blood:	n/a	n/a
8	POLR2A	chr19:22715677-22715760	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:22709349-22709362	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr19:22715611-22715862	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:22715612-22715736	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:22715635-22715877	GM12892	blood:	n/a	n/a
13	POLR2A	chr19:22715683-22715770	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:22715881-22715890	ProgFib	skin:	n/a	n/a
15	POLR2A	chr19:22715606-22715787	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr19:22715579-22715812	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:22715669-22715763	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:22715659-22715784	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr19:22715543-22715588	MCF-7	breast:	n/a	n/a
20	POLR2A	chr19:22715209-22715447	MCF-7	breast:	n/a	n/a
21	POLR2A	chr19:22715448-22715498	MCF-7	breast:	n/a	n/a
22	RFX5	chr19:22712945-22712976	K562	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22711958-22712008	HepG2	liver:	n/a
2	chr19:22711958-22712008	HRPEpiC	eye:	n/a
3	chr19:22715575-22715625	Jurkat	blood:	n/a
4	chr19:22715410-22715460	AG09309	skin:	n/a
5	chr19:22715300-22715350	HMEC	breast:	n/a
6	chr19:22715077-22715127	HRPEpiC	eye:	n/a
7	chr19:22715575-22715625	AG09309	skin:	n/a
8	chr19:22711958-22712008	Hela-S3	cervix:	n/a
9	chr19:22715410-22715460	PANC-1	pancreas:	n/a
10	chr19:22715077-22715127	Hela-S3	cervix:	n/a
11	chr19:22715077-22715127	SKMC	muscle:	n/a
12	chr19:22711958-22712008	U87	brain:	n/a
13	chr19:22715575-22715625	GM06990	blood:	n/a
14	chr19:22715575-22715625	GM12878	blood:	n/a
15	chr19:22715410-22715460	IMR90	lung:	fetal
16	chr19:22715410-22715460	SKMC	muscle:	n/a
17	chr19:22715077-22715127	SAEC	small airway:	n/a
18	chr19:22715300-22715350	HepG2	liver:	n/a
19	chr19:22715697-22715747	HRPEpiC	eye:	n/a
20	chr19:22715077-22715127	GM12892	blood:	n/a
21	chr19:22711958-22712008	ovcar-3	ovarian:	n/a
22	chr19:22715300-22715350	HAEpiC	amniotic membrane:	n/a
23	chr19:22715410-22715460	HPAEpiC	pulmonary alveolar:	n/a
24	chr19:22715300-22715350	NH-A	brain:	n/a
25	chr19:22711958-22712008	LNCaP	prostate:	n/a
26	chr19:22715697-22715747	HCF	heart:	n/a
27	chr19:22715077-22715127	HCM	heart:	n/a
28	chr19:22715077-22715127	AG04449	skin:	fetal
29	chr19:22715575-22715625	ovcar-3	ovarian:	n/a
30	chr19:22715300-22715350	A549	lung:	n/a
31	chr19:22715575-22715625	HEEpiC	esophagus:	n/a
32	chr19:22715410-22715460	T-47D	breast:	n/a
33	chr19:22715697-22715747	MCF-7	breast:	n/a
34	chr19:22715300-22715350	SK-N-MC	brain:	n/a
35	chr19:22715697-22715747	SK-N-SH_RA	brain:	n/a
36	chr19:22715410-22715460	ovcar-3	ovarian:	n/a
37	chr19:22715300-22715350	HCF	heart:	n/a
38	chr19:22711958-22712008	T-47D	breast:	n/a
39	chr19:22711958-22712008	SK-N-MC	brain:	n/a
40	chr19:22715410-22715460	GM12892	blood:	n/a
41	chr19:22715077-22715127	Jurkat	blood:	n/a
42	chr19:22715575-22715625	HCT-116	colon:	n/a
43	chr19:22715575-22715625	LNCaP	prostate:	n/a
44	chr19:22715077-22715127	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:22715697-22715747	GM12878	blood:	n/a
46	chr19:22715575-22715625	PFSK-1	brain:	n/a
47	chr19:22715300-22715350	HRE	kidney:	n/a
48	chr19:22711958-22712008	NB4	blood:	n/a
49	chr19:22715300-22715350	SK-N-SH	brain:	n/a
50	chr19:22715410-22715460	NT2-D1	testis:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF492-1	chr19:22716002-22716297	XLOC_013014
2	lnc-ZNF98-9	chr19:22715141-22715368	NONHSAT063793
3	lnc-ZNF492-1	chr19:22715579-22715716	ENSG00000269364.1
4	lnc-ZNF492-1	chr19:22715973-22716293	ENSG00000269364.1
5	lnc-ZNF98-2	chr19:22708110-22710751	ENSG00000260599.1
6	lnc-ZNF98-9	chr19:22715141-22715287	NONHSAT063787

No data

Variant related genes	Relation type
ENSG00000260599	TF binding region
ENSG00000269364	TF binding region
ZNF98	TF binding region
ENSG00000260599	CpG island
ENSG00000269364	CpG island
ZNF98	CpG island
EIF4E2	miRNA target sites

Extended variants
information (count: 340 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34972975	chr19:22708754-22708755	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs58854892	chr19:22708755-22708756	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
3	rs562033125	chr19:22708762-22708763	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573941208	chr19:22708775-22708776	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs60051486	chr19:22708830-22708831	Weak transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560022808	chr19:22708955-22708956	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs191557187	chr19:22709088-22709089	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551907510	chr19:22709234-22709235	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs1216110	chr19:22709243-22709244	Weak transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143155618	chr19:22709258-22709259	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs1216111	chr19:22709322-22709323	Weak transcription Enhancers Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568361316	chr19:22709330-22709331	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs527834697	chr19:22709361-22709362	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs551270899	chr19:22709366-22709367	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs547556822	chr19:22709368-22709369	Weak transcription Enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1216112	chr19:22709476-22709477	Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs539896108	chr19:22709477-22709478	Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs2915924	chr19:22709546-22709547	Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1216113	chr19:22709559-22709560	Flanking Active TSS Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147059375	chr19:22709582-22709583	Flanking Active TSS Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs1234975	chr19:22709610-22709611	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1216114	chr19:22709624-22709625	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1216115	chr19:22709636-22709637	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs1216116	chr19:22709644-22709645	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs553503100	chr19:22709654-22709655	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs572050562	chr19:22709657-22709658	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs545843051	chr19:22709695-22709696	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201523992	chr19:22709699-22709700	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs145121393	chr19:22709700-22709701	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs386807951	chr19:22709701-22709702	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs386807952	chr19:22709702-22709703	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs376740592	chr19:22709703-22709704	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs531382256	chr19:22709705-22709706	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs543422469	chr19:22709707-22709708	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs561998808	chr19:22709709-22709710	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs1216117	chr19:22709714-22709715	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs373019450	chr19:22709722-22709723	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs1216118	chr19:22709728-22709729	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565825054	chr19:22709741-22709742	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs532970759	chr19:22709784-22709785	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs62121279	chr19:22709795-22709796	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs1216119	chr19:22709845-22709846	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs569791355	chr19:22709893-22709894	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs534487367	chr19:22709933-22709934	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs72620599	chr19:22709951-22709952	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183658283	chr19:22709960-22709961	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs567641046	chr19:22709965-22709966	Active TSS Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs565778666	chr19:22710012-22710013	Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs147175195	chr19:22710013-22710014	Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs535275608	chr19:22710045-22710046	Active TSS Flanking Active TSS	lncRNA	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22701200-22709400	Weak transcription	Aorta	Aorta
2	chr19:22702600-22709400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr19:22707000-22708800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr19:22708400-22709400	Enhancers	Colon Smooth Muscle	Colon
5	chr19:22708600-22709400	Weak transcription	Pancreas	Pancrea
6	chr19:22708600-22716200	Active TSS	Ovary	ovary
7	chr19:22708800-22709200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr19:22709200-22709400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:22709400-22709600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:22709400-22709600	Flanking Active TSS	Aorta	Aorta
11	chr19:22709400-22709600	Flanking Active TSS	Colon Smooth Muscle	Colon
12	chr19:22709400-22710200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr19:22709400-22710200	Active TSS	Pancreas	Pancrea
14	chr19:22709400-22710800	Active TSS	Right Atrium	heart
15	chr19:22709600-22710000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
16	chr19:22709600-22710200	Active TSS	Rectal Smooth Muscle	rectum
17	chr19:22709600-22710400	Active TSS	Brain Anterior Caudate	brain
18	chr19:22709600-22710400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:22709600-22710600	Active TSS	Colon Smooth Muscle	Colon
20	chr19:22709600-22710800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr19:22709600-22716200	Active TSS	Aorta	Aorta
22	chr19:22710200-22710400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr19:22710200-22710400	Flanking Active TSS	Pancreas	Pancrea
24	chr19:22710200-22710400	Enhancers	Rectal Smooth Muscle	rectum
25	chr19:22710400-22710600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:22710400-22710800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr19:22710400-22710800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:22710400-22711800	Weak transcription	Pancreas	Pancrea
29	chr19:22710600-22714800	Weak transcription	Colon Smooth Muscle	Colon
30	chr19:22710800-22711400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr19:22710800-22711800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr19:22710800-22711800	Weak transcription	Right Atrium	heart
33	chr19:22710800-22712200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr19:22711400-22711600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:22711600-22714000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr19:22711800-22712000	ZNF genes & repeats	Right Atrium	heart
37	chr19:22711800-22712800	Active TSS	Pancreas	Pancrea
38	chr19:22711800-22716200	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr19:22712000-22714600	Weak transcription	Right Atrium	heart
40	chr19:22712200-22714400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr19:22712800-22714400	Weak transcription	Pancreas	Pancrea
42	chr19:22714000-22714400	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr19:22714400-22714600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:22714400-22714800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr19:22714400-22714800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:22714400-22715400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr19:22714400-22716000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr19:22714400-22716200	Active TSS	Pancreas	Pancrea
49	chr19:22714600-22715600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:22714600-22716000	Active TSS	Brain Angular Gyrus	brain

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