Variant report

Variant	nsv1065196
Chromosome Location	chr19:22419946-22446636
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:366)
Chromatin interactive
region (count:0)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

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	chr19:22439629-22440035	HepG2	liver:	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	chr19:22436773-22436975	A549	lung:	n/a	n/a
8	CEBPB	chr19:22439865-22439912	K562	blood:	n/a	n/a
9	CEBPB	chr19:22423082-22423250	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:22428273-22428410	A549	lung:	n/a	n/a
11	CEBPB	chr19:22423125-22423259	IMR90	lung:	n/a	n/a
12	CEBPB	chr19:22435333-22435533	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr19:22435325-22435617	A549	lung:	n/a	n/a
14	CEBPB	chr19:22440468-22442262	A549	lung:	n/a	chr19:22441156-22441167
15	CEBPB	chr19:22439677-22440087	A549	lung:	n/a	n/a
16	CEBPB	chr19:22435325-22435556	HepG2	liver:	n/a	n/a
17	CEBPB	chr19:22427609-22427849	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:22427533-22427881	A549	lung:	n/a	n/a
19	CEBPB	chr19:22439698-22440030	IMR90	lung:	n/a	n/a
20	CEBPB	chr19:22440381-22442256	HepG2	liver:	n/a	chr19:22441156-22441167
21	CTCF	chr19:22420340-22420490	K562	blood:	n/a	n/a
22	CTCF	chr19:22420300-22420450	HEK293	kidney:	n/a	n/a
23	CTCF	chr19:22420180-22420330	HCT-116	colon:	n/a	n/a
24	CTCF	chr19:22420200-22420350	A549	lung:	n/a	n/a
25	CTCF	chr19:22420280-22420430	NB4	blood:	n/a	n/a
26	CTCF	chr19:22420200-22420350	GM12867	blood:	n/a	n/a
27	CTCF	chr19:22420140-22420290	GM06990	blood:	n/a	n/a
28	CTCF	chr19:22420180-22420330	HCFaa	heart:	n/a	n/a
29	CTCF	chr19:22420220-22420370	GM12874	blood:	n/a	n/a
30	CTCF	chr19:22420280-22420430	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr19:22420180-22420330	GM12873	blood:	n/a	n/a
32	CTCF	chr19:22420280-22420430	HMF	breast:	n/a	n/a
33	CTCF	chr19:22420260-22420410	BE2_C	brain:	n/a	n/a
34	CTCF	chr19:22443880-22443912	Lung_OC	lung:	n/a	n/a
35	CTCF	chr19:22420240-22420390	GM12873	blood:	n/a	n/a
36	CTCF	chr19:22420240-22420390	HepG2	liver:	n/a	n/a
37	JUND	chr19:22427968-22428301	HepG2	liver:	n/a	chr19:22428140-22428151
38	JUND	chr19:22424556-22424713	HepG2	liver:	n/a	chr19:22424603-22424614
39	JUND	chr19:22426474-22426656	HepG2	liver:	n/a	chr19:22426582-22426593
40	MAFF	chr19:22427619-22427781	HepG2	liver:	n/a	chr19:22427671-22427689
41	MAFF	chr19:22443369-22443643	K562	blood:	n/a	chr19:22443490-22443508
42	MAFF	chr19:22443449-22443578	HepG2	liver:	n/a	chr19:22443490-22443508
43	MAFK	chr19:22443365-22443614	HepG2	liver:	n/a	chr19:22443492-22443507
44	MAFK	chr19:22434787-22434807	HepG2	liver:	n/a	n/a
45	MAFK	chr19:22427521-22427829	HepG2	liver:	n/a	chr19:22427672-22427687
46	MAFK	chr19:22443445-22443511	H1-hESC	embryonic stem cell:	n/a	chr19:22443492-22443507
47	MAFK	chr19:22427590-22427790	IMR90	lung:	n/a	chr19:22427672-22427687
48	MAFK	chr19:22427557-22427815	HepG2	liver:	n/a	chr19:22427672-22427687
49	MAFK	chr19:22443393-22443523	IMR90	lung:	n/a	chr19:22443492-22443507
50	MAFK	chr19:22443388-22443563	K562	blood:	n/a	chr19:22443492-22443507

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22444593-22444643	GM12891	blood:	n/a
2	chr19:22444593-22444643	H1-hESC	embryonic stem cell:	embryo
3	chr19:22442461-22442511	SK-N-SH_RA	brain:	n/a
4	chr19:22441140-22441190	NT2-D1	testis:	n/a
5	chr19:22444509-22444559	IMR90	lung:	fetal
6	chr19:22446026-22446076	HEK293	kidney:	embryo
7	chr19:22444509-22444559	LNCaP	prostate:	n/a
8	chr19:22444509-22444559	T-47D	breast:	n/a
9	chr19:22442461-22442511	HCM	heart:	n/a
10	chr19:22446026-22446076	HIPEpiC	eye:	n/a
11	chr19:22444593-22444643	NH-A	brain:	n/a
12	chr19:22444714-22444764	NT2-D1	testis:	n/a
13	chr19:22444714-22444764	AG10803	skin:	n/a
14	chr19:22446026-22446076	GM06990	blood:	n/a
15	chr19:22446026-22446076	NT2-D1	testis:	n/a
16	chr19:22446026-22446076	SK-N-SH	brain:	n/a
17	chr19:22441140-22441190	SK-N-SH_RA	brain:	n/a
18	chr19:22444593-22444643	AG09309	skin:	n/a
19	chr19:22444714-22444764	GM12892	blood:	n/a
20	chr19:22446026-22446076	PANC-1	pancreas:	n/a
21	chr19:22441140-22441190	GM12878	blood:	n/a
22	chr19:22444714-22444764	HCF	heart:	n/a
23	chr19:22444714-22444764	NH-A	brain:	n/a
24	chr19:22446026-22446076	AG09319	gingival:	n/a
25	chr19:22441140-22441190	AG10803	skin:	n/a
26	chr19:22444714-22444764	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:22444509-22444559	GM19239	blood:	n/a
28	chr19:22444714-22444764	PrEC	prostate:	n/a
29	chr19:22444714-22444764	GM19239	blood:	n/a
30	chr19:22446026-22446076	AoSMC	blood vessel:	n/a
31	chr19:22444593-22444643	HepG2	liver:	n/a
32	chr19:22441140-22441190	T-47D	breast:	n/a
33	chr19:22446026-22446076	MCF-7	breast:	n/a
34	chr19:22444593-22444643	AG04450	lung:	fetal
35	chr19:22444593-22444643	NHBE	bronchial:	n/a
36	chr19:22444593-22444643	U87	brain:	n/a
37	chr19:22441140-22441190	HAEpiC	amniotic membrane:	n/a
38	chr19:22444593-22444643	MCF10A-Er-Src	breast:	n/a
39	chr19:22444509-22444559	U87	brain:	n/a
40	chr19:22444593-22444643	NB4	blood:	n/a
41	chr19:22444714-22444764	NHDF-neo	bronchial:	n/a
42	chr19:22444714-22444764	HCT-116	colon:	n/a
43	chr19:22444593-22444643	RPTEC	kidney:	n/a
44	chr19:22444593-22444643	LNCaP	prostate:	n/a
45	chr19:22444509-22444559	SK-N-SH	brain:	n/a
46	chr19:22446026-22446076	GM19239	blood:	n/a
47	chr19:22442461-22442511	BJ	skin:	n/a
48	chr19:22444509-22444559	AG09309	skin:	n/a
49	chr19:22444593-22444643	PANC-1	pancreas:	n/a
50	chr19:22444509-22444559	MCF10A-Er-Src	breast:	n/a

No data

(count:18 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 351 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:351 , 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	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: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:3 , 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

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