Variant report

Variant	nsv1061941
Chromosome Location	chr19:22413928-22503485
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:113)
CpG islands
(count:671)
Chromatin interactive
region (count:0)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:113 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr19:22443461-22443584	K562	blood:	n/a	n/a
2	BACH1	chr19:22443441-22443605	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr19:22440975-22441729	IMR90	lung:	n/a	chr19:22441156-22441167
4	CEBPB	chr19:22435325-22435617	A549	lung:	n/a	n/a
5	CEBPB	chr19:22441054-22441344	K562	blood:	n/a	chr19:22441156-22441167
6	CEBPB	chr19:22440783-22441423	Hela-S3	cervix:	n/a	chr19:22441156-22441167
7	CEBPB	chr19:22439698-22440030	IMR90	lung:	n/a	n/a
8	CEBPB	chr19:22427533-22427881	A549	lung:	n/a	n/a
9	CEBPB	chr19:22427609-22427849	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:22428273-22428410	A549	lung:	n/a	n/a
11	CEBPB	chr19:22439865-22439912	K562	blood:	n/a	n/a
12	CEBPB	chr19:22440468-22442262	A549	lung:	n/a	chr19:22441156-22441167
13	CEBPB	chr19:22439629-22440035	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:22416547-22416648	A549	lung:	n/a	n/a
15	CEBPB	chr19:22423082-22423250	HepG2	liver:	n/a	n/a
16	CEBPB	chr19:22423125-22423259	IMR90	lung:	n/a	n/a
17	CEBPB	chr19:22436773-22436975	A549	lung:	n/a	n/a
18	CEBPB	chr19:22435333-22435533	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr19:22459936-22459986	A549	lung:	n/a	n/a
20	CEBPB	chr19:22439677-22440087	A549	lung:	n/a	n/a
21	CEBPB	chr19:22435325-22435556	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:22440381-22442256	HepG2	liver:	n/a	chr19:22441156-22441167
23	CTCF	chr19:22420220-22420370	GM12874	blood:	n/a	n/a
24	CTCF	chr19:22466292-22466341	GM13977	blood:	n/a	n/a
25	CTCF	chr19:22420200-22420350	A549	lung:	n/a	n/a
26	CTCF	chr19:22420180-22420330	HCFaa	heart:	n/a	n/a
27	CTCF	chr19:22420280-22420430	NB4	blood:	n/a	n/a
28	CTCF	chr19:22467421-22467490	GM20000	blood:	n/a	n/a
29	CTCF	chr19:22443880-22443912	Lung_OC	lung:	n/a	n/a
30	CTCF	chr19:22493741-22493845	GM20000	blood:	n/a	n/a
31	CTCF	chr19:22414820-22414970	GM12878	blood:	n/a	n/a
32	CTCF	chr19:22420340-22420490	K562	blood:	n/a	n/a
33	CTCF	chr19:22420140-22420290	GM06990	blood:	n/a	n/a
34	CTCF	chr19:22414508-22414567	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr19:22420180-22420330	GM12873	blood:	n/a	n/a
36	CTCF	chr19:22420240-22420390	GM12873	blood:	n/a	n/a
37	CTCF	chr19:22499952-22499981	GM20000	blood:	n/a	n/a
38	CTCF	chr19:22420240-22420390	HepG2	liver:	n/a	n/a
39	CTCF	chr19:22420200-22420350	GM12867	blood:	n/a	n/a
40	CTCF	chr19:22420180-22420330	HCT-116	colon:	n/a	n/a
41	CTCF	chr19:22420280-22420430	HMF	breast:	n/a	n/a
42	CTCF	chr19:22417391-22417405	GM13976	blood:	n/a	n/a
43	CTCF	chr19:22420300-22420450	HEK293	kidney:	n/a	n/a
44	CTCF	chr19:22420280-22420430	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr19:22420260-22420410	BE2_C	brain:	n/a	n/a
46	CTCF	chr19:22465392-22465520	GM20000	blood:	n/a	n/a
47	GATA2	chr19:22468948-22469278	SH-SY5Y	brain:	n/a	n/a
48	GATA3	chr19:22468905-22469418	T-47D	breast:	n/a	n/a
49	GATA3	chr19:22468909-22469330	T-47D	breast:	n/a	n/a
50	IRF1	chr19:22502113-22502209	K562	blood:	n/a	n/a

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22442461-22442511	ovcar-3	ovarian:	n/a
2	chr19:22441140-22441190	Jurkat	blood:	n/a
3	chr19:22469860-22469910	SK-N-SH	brain:	n/a
4	chr19:22446026-22446076	HNPCEpiC	eye:	n/a
5	chr19:22442461-22442511	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:22444593-22444643	HMEC	breast:	n/a
7	chr19:22444714-22444764	AG04450	lung:	fetal
8	chr19:22442461-22442511	PrEC	prostate:	n/a
9	chr19:22469368-22469418	AG09309	skin:	n/a
10	chr19:22442461-22442511	HRCEpiC	kidney:	n/a
11	chr19:22444593-22444643	AG10803	skin:	n/a
12	chr19:22469368-22469418	HCM	heart:	n/a
13	chr19:22444593-22444643	PFSK-1	brain:	n/a
14	chr19:22442461-22442511	T-47D	breast:	n/a
15	chr19:22469368-22469418	AG04449	skin:	fetal
16	chr19:22441140-22441190	NB4	blood:	n/a
17	chr19:22469223-22469273	NHBE	bronchial:	n/a
18	chr19:22441140-22441190	HCF	heart:	n/a
19	chr19:22446026-22446076	GM12891	blood:	n/a
20	chr19:22469860-22469910	HRPEpiC	eye:	n/a
21	chr19:22441140-22441190	AG09309	skin:	n/a
22	chr19:22469223-22469273	BJ	skin:	n/a
23	chr19:22442461-22442511	K562	blood:	n/a
24	chr19:22446026-22446076	NH-A	brain:	n/a
25	chr19:22446026-22446076	AoSMC	blood vessel:	n/a
26	chr19:22469533-22469583	Caco-2	colon:	n/a
27	chr19:22444714-22444764	HNPCEpiC	eye:	n/a
28	chr19:22469860-22469910	HEEpiC	esophagus:	n/a
29	chr19:22469368-22469418	NHDF-neo	bronchial:	n/a
30	chr19:22466877-22466927	NH-A	brain:	n/a
31	chr19:22469368-22469418	Caco-2	colon:	n/a
32	chr19:22444714-22444764	Hela-S3	cervix:	n/a
33	chr19:22442461-22442511	HIPEpiC	eye:	n/a
34	chr19:22469368-22469418	HRCEpiC	kidney:	n/a
35	chr19:22444714-22444764	MCF-7	breast:	n/a
36	chr19:22446026-22446076	MCF10A-Er-Src	breast:	n/a
37	chr19:22444509-22444559	HCM	heart:	n/a
38	chr19:22444714-22444764	SAEC	small airway:	n/a
39	chr19:22466877-22466927	PANC-1	pancreas:	n/a
40	chr19:22442461-22442511	AG04449	skin:	fetal
41	chr19:22469223-22469273	GM19239	blood:	n/a
42	chr19:22444593-22444643	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:22446026-22446076	ProgFib	skin:	n/a
44	chr19:22466877-22466927	NB4	blood:	n/a
45	chr19:22469223-22469273	PFSK-1	brain:	n/a
46	chr19:22469223-22469273	PrEC	prostate:	n/a
47	chr19:22444509-22444559	SK-N-MC	brain:	n/a
48	chr19:22469860-22469910	HAEpiC	amniotic membrane:	n/a
49	chr19:22469860-22469910	ProgFib	skin:	n/a
50	chr19:22466877-22466927	BE2_C	brain:	n/a

No data

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF676-1	chr19:22428580-22428995	XLOC_013266
2	lnc-ZNF676-1	chr19:22427704-22428234	XLOC_013266
3	lnc-ZNF98-8	chr19:22481779-22482009	NONHSAT063779
4	lnc-ZNF729-1	chr19:22467343-22467809	XLOC_013011
5	lnc-ZNF676-1	chr19:22427704-22428003	XLOC_013266
6	lnc-ZNF676-1	chr19:22428580-22428688	NONHSAT063770
7	lnc-ZNF729-1	chr19:22442700-22442866	XLOC_013011
8	lnc-ZNF676-1	chr19:22427128-22427457	XLOC_013266
9	lnc-ZNF98-8	chr19:22482336-22482670	NONHSAT063779
10	lnc-ZNF729-2	chr19:22443851-22444137	ENSG00000268597.1
11	lnc-ZNF676-1	chr19:22427343-22428234	NONHSAT063770
12	lnc-ZNF676-1	chr19:22429191-22429226	NONHSAT063770
13	lnc-ZNF729-2	chr19:22442495-22442593	ENSG00000268597.1
14	lnc-ZNF676-1	chr19:22439228-22439237	XLOC_013266
15	lnc-ZNF676-1	chr19:22429547-22429561	NONHSAT063770
16	lnc-ZNF676-1	chr19:22426867-22427457	XLOC_013266
17	lnc-ZNF676-1	chr19:22422350-22422570	NONHSAT063770
18	lnc-ZNF676-1	chr19:22427128-22427457	XLOC_013266
19	lnc-ZNF676-1	chr19:22428580-22428995	XLOC_013266
20	lnc-ZNF676-1	chr19:22426056-22428149	ENSG00000267872.1
21	lnc-ZNF676-1	chr19:22427150-22428234	XLOC_013266

No data

Variant related genes	Relation type
ZNF729	TF binding region
ENSG00000270191	TF binding region
ENSG00000267872	TF binding region
ENSG00000268597	TF binding region
ZNF729	CpG island
ENSG00000270191	CpG island
ENSG00000267872	CpG island
ENSG00000268597	CpG island
PSME1	miRNA target sites
PHF19	miRNA target sites
PQBP1	miRNA target sites
FOXM1	miRNA target sites
CEBPB	miRNA target sites

Extended variants
information (count: 677 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114516156	chr19:22422372-22422373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs560303279	chr19:22422379-22422380	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs187565825	chr19:22422425-22422426	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs10420558	chr19:22422430-22422431	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs73933927	chr19:22422487-22422488	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs191290104	chr19:22422497-22422498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531782533	chr19:22422499-22422500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs367750340	chr19:22422529-22422530	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs550181465	chr19:22422530-22422531	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs10422039	chr19:22422539-22422540	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs554269596	chr19:22422554-22422555	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs568571779	chr19:22422562-22422563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs192663076	chr19:22426056-22426057	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs371940623	chr19:22426062-22426063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs539552057	chr19:22426108-22426109	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs1961316	chr19:22426154-22426155	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572770385	chr19:22426177-22426178	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs546282096	chr19:22426214-22426215	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs183184041	chr19:22426242-22426243	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs538203954	chr19:22426243-22426244	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs187693149	chr19:22426297-22426298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs575465251	chr19:22426313-22426314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs375878268	chr19:22426321-22426322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs73548571	chr19:22426348-22426349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs373668605	chr19:22426401-22426402	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs720893	chr19:22426404-22426405	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540478679	chr19:22426429-22426430	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs555661585	chr19:22426430-22426431	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs567352667	chr19:22426447-22426448	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs192623507	chr19:22426493-22426494	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs577424919	chr19:22426497-22426498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs138435591	chr19:22426508-22426509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs11085515	chr19:22426520-22426521	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs10411367	chr19:22426553-22426554	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs548587471	chr19:22426583-22426584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs560883801	chr19:22426596-22426597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs527878494	chr19:22426653-22426654	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs552359678	chr19:22426701-22426702	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs141059823	chr19:22426719-22426720	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs576730155	chr19:22426732-22426733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs375695875	chr19:22426743-22426744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs532096604	chr19:22426746-22426747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs75828686	chr19:22426756-22426757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs75133758	chr19:22426757-22426758	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs184843522	chr19:22426758-22426759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs554563747	chr19:22426777-22426778	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs532636899	chr19:22426812-22426813	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs138849290	chr19:22426818-22426819	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs149376487	chr19:22426827-22426828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs34580729	chr19:22426841-22426842	Inactive region	lncRNA	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	17122850	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22439800-22440800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:22444400-22444800	Active TSS	HSMM	muscle
3	chr19:22445000-22445600	Active TSS	Fetal Heart	heart
4	chr19:22446800-22448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:22448600-22449200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:22448800-22449200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:22448800-22449400	ZNF genes & repeats	Liver	Liver
8	chr19:22450000-22451200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr19:22455800-22456000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:22468800-22469600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr19:22469000-22469600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:22469000-22469600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
13	chr19:22469000-22469600	ZNF genes & repeats	Aorta	Aorta
14	chr19:22469000-22469600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
15	chr19:22469000-22469600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
16	chr19:22469000-22469600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr19:22469000-22469600	Active TSS	Fetal Kidney	kidney
18	chr19:22469000-22469600	ZNF genes & repeats	Pancreas	Pancrea
19	chr19:22469000-22469800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:22469000-22469800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:22469000-22469800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:22469000-22469800	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:22469000-22469800	ZNF genes & repeats	Liver	Liver
24	chr19:22469000-22469800	ZNF genes & repeats	Right Atrium	heart
25	chr19:22469000-22470000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr19:22469200-22469400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr19:22469200-22469400	Bivalent/Poised TSS	Right Ventricle	heart
28	chr19:22469200-22469600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr19:22469200-22469600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr19:22469200-22469600	ZNF genes & repeats	Esophagus	oesophagus
31	chr19:22469200-22469600	Bivalent/Poised TSS	Left Ventricle	heart
32	chr19:22469200-22469600	Active TSS	Rectal Smooth Muscle	rectum
33	chr19:22469200-22469800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:22469200-22469800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
35	chr19:22469400-22469600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
36	chr19:22469400-22469600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
37	chr19:22469600-22469800	Active TSS	Right Ventricle	heart

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