Variant report

Variant	nsv978900
Chromosome Location	chr19:22269235-22358448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:22317299-22317405	K562	blood:	n/a	n/a
2	BACH1	chr19:22276070-22276088	K562	blood:	n/a	n/a
3	BCLAF1	chr19:22327265-22327471	GM12878	blood:	n/a	n/a
4	CBX3	chr19:22327195-22327536	K562	blood:	n/a	n/a
5	CBX3	chr19:22327182-22327501	K562	blood:	n/a	n/a
6	CBX3	chr19:22327284-22327512	HCT-116	colon:	n/a	n/a
7	CEBPB	chr19:22316363-22316659	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:22320453-22320571	A549	lung:	n/a	n/a
9	CEBPB	chr19:22353367-22353394	HepG2	liver:	n/a	chr19:22353370-22353381
10	CEBPB	chr19:22317520-22317702	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:22316342-22316684	A549	lung:	n/a	n/a
12	CEBPB	chr19:22318107-22318751	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr19:22318406-22318779	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:22320441-22320600	HepG2	liver:	n/a	n/a
15	CEBPZ	chr19:22327227-22327553	HepG2	liver:	n/a	n/a
16	CTCF	chr19:22306400-22306550	HEK293	kidney:	n/a	n/a
17	CTCF	chr19:22354495-22354502	Medullo	brain:	n/a	n/a
18	CTCF	chr19:22294750-22294821	GM13976	blood:	n/a	n/a
19	CTCF	chr19:22326880-22327030	HA-sp	spinal cord:	n/a	n/a
20	CTCF	chr19:22342028-22342100	LNCaP	prostate:	n/a	n/a
21	CTCF	chr19:22347623-22347657	GM10248	blood:	n/a	n/a
22	CTCF	chr19:22288010-22288081	GM13977	blood:	n/a	n/a
23	CTCF	chr19:22353464-22353507	Lung_OC	lung:	n/a	n/a
24	CTCF	chr19:22323184-22323240	ProgFib	skin:	n/a	n/a
25	CTCF	chr19:22326760-22326910	MCF-7	breast:	n/a	n/a
26	CTCF	chr19:22323766-22323791	MCF-7	breast:	n/a	n/a
27	CTCF	chr19:22344343-22344384	GM20000	blood:	n/a	n/a
28	CTCF	chr19:22295793-22295878	GM20000	blood:	n/a	n/a
29	CTCF	chr19:22323327-22323369	Fibrobl	skin:	n/a	n/a
30	CTCF	chr19:22278949-22278977	GM20000	blood:	n/a	n/a
31	CTCF	chr19:22306343-22306483	K562	blood:	n/a	n/a
32	CTCF	chr19:22322395-22322424	Kidney_OC	kidney:	n/a	n/a
33	CTCF	chr19:22350251-22350267	GM13976	blood:	n/a	n/a
34	E2F4	chr19:22299519-22299743	MCF10A-Er-Src	breast:	n/a	n/a
35	EGR1	chr19:22296773-22296918	GM12878	blood:	n/a	n/a
36	EP300	chr19:22327307-22327434	GM12878	blood:	n/a	n/a
37	EP300	chr19:22271257-22271259	GM12878	blood:	n/a	n/a
38	EP300	chr19:22327314-22327434	GM12878	blood:	n/a	n/a
39	GTF2F1	chr19:22272327-22272328	K562	blood:	n/a	n/a
40	IRF1	chr19:22327297-22327497	K562	blood:	n/a	n/a
41	IRF1	chr19:22355978-22356140	K562	blood:	n/a	n/a
42	IRF3	chr19:22327410-22327486	GM12878	blood:	n/a	n/a
43	JUN	chr19:22270740-22270941	K562	blood:	n/a	n/a
44	JUN	chr19:22327208-22327544	K562	blood:	n/a	n/a
45	JUND	chr19:22354162-22354387	HepG2	liver:	n/a	chr19:22354279-22354290
46	KAP1	chr19:22326970-22327837	K562	blood:	n/a	n/a
47	KAP1	chr19:22327012-22327731	HEK293	kidney:	n/a	n/a
48	KAP1	chr19:22327199-22327612	U2OS	brain:	n/a	n/a
49	KAP1	chr19:22270731-22271627	K562	blood:	n/a	n/a
50	MAFF	chr19:22282921-22283114	HepG2	liver:	n/a	chr19:22282965-22282983

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22320975-22321025	IMR90	lung:	fetal
2	chr19:22319196-22319246	GM06990	blood:	n/a
3	chr19:22320975-22321025	HEK293	kidney:	embryo
4	chr19:22320869-22320919	Hela-S3	cervix:	n/a
5	chr19:22320869-22320919	ProgFib	skin:	n/a
6	chr19:22321700-22321750	NHDF-neo	bronchial:	n/a
7	chr19:22320869-22320919	AG09309	skin:	n/a
8	chr19:22319196-22319246	MCF10A-Er-Src	breast:	n/a
9	chr19:22323107-22323157	ECC-1	luminal epithelium:	n/a
10	chr19:22320869-22320919	HepG2	liver:	n/a
11	chr19:22320869-22320919	H1-hESC	embryonic stem cell:	embryo
12	chr19:22320869-22320919	GM06990	blood:	n/a
13	chr19:22321700-22321750	HAEpiC	amniotic membrane:	n/a
14	chr19:22318466-22318516	NH-A	brain:	n/a
15	chr19:22319196-22319246	HUVEC	blood vessel:	n/a
16	chr19:22321700-22321750	CMK	blood:	n/a
17	chr19:22323107-22323157	SK-N-SH_RA	brain:	n/a
18	chr19:22321700-22321750	HIPEpiC	eye:	n/a
19	chr19:22321700-22321750	HPAEpiC	pulmonary alveolar:	n/a
20	chr19:22321700-22321750	GM06990	blood:	n/a
21	chr19:22320869-22320919	AG10803	skin:	n/a
22	chr19:22320744-22320794	AG04449	skin:	fetal
23	chr19:22320744-22320794	ECC-1	luminal epithelium:	n/a
24	chr19:22321700-22321750	HepG2	liver:	n/a
25	chr19:22320975-22321025	ECC-1	luminal epithelium:	n/a
26	chr19:22321700-22321750	U87	brain:	n/a
27	chr19:22318466-22318516	HIPEpiC	eye:	n/a
28	chr19:22318466-22318516	BE2_C	brain:	n/a
29	chr19:22320975-22321025	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:22318466-22318516	BJ	skin:	n/a
31	chr19:22320975-22321025	AG10803	skin:	n/a
32	chr19:22320975-22321025	NHDF-neo	bronchial:	n/a
33	chr19:22321700-22321750	RPTEC	kidney:	n/a
34	chr19:22323107-22323157	NHBE	bronchial:	n/a
35	chr19:22321700-22321750	PFSK-1	brain:	n/a
36	chr19:22321700-22321750	LNCaP	prostate:	n/a
37	chr19:22319196-22319246	U87	brain:	n/a
38	chr19:22318466-22318516	HRE	kidney:	n/a
39	chr19:22319196-22319246	ECC-1	luminal epithelium:	n/a
40	chr19:22321700-22321750	PrEC	prostate:	n/a
41	chr19:22323107-22323157	SAEC	small airway:	n/a
42	chr19:22320975-22321025	GM19239	blood:	n/a
43	chr19:22321700-22321750	HRCEpiC	kidney:	n/a
44	chr19:22320744-22320794	AoSMC	blood vessel:	n/a
45	chr19:22323107-22323157	HPAEpiC	pulmonary alveolar:	n/a
46	chr19:22320975-22321025	HAEpiC	amniotic membrane:	n/a
47	chr19:22320744-22320794	SK-N-SH_RA	brain:	n/a
48	chr19:22320869-22320919	LNCaP	prostate:	n/a
49	chr19:22319196-22319246	PANC-1	pancreas:	n/a
50	chr19:22319196-22319246	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:22236195..22238676-chr19:22281763..22284450,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF676-3	chr19:22312574-22313120	NONHSAT063766
2	lnc-ZNF676-3	chr19:22314709-22314736	NONHSAT063766
3	lnc-ZNF676-3	chr19:22312079-22312249	NONHSAT063766
4	lnc-ZNF676-2	chr19:22357568-22357993	NONHSAT063768
5	lnc-ZNF676-3	chr19:22311429-22311769	NONHSAT063766

No data

Variant related genes	Relation type
VN1R85P	TF binding region
ENSG00000268116	TF binding region
PCGF7P	TF binding region
ENSG00000269575	TF binding region
ZNF92P2	TF binding region
VN1R85P	CpG island
ENSG00000268116	CpG island
PCGF7P	CpG island
ENSG00000269575	CpG island
ZNF92P2	CpG island

Extended variants
information (count: 1374 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1374 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76446294	chr19:22269313-22269314	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs145050673	chr19:22269350-22269351	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs73930399	chr19:22269351-22269352	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs56183023	chr19:22269366-22269367	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs558203186	chr19:22269370-22269371	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs552430612	chr19:22269459-22269460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576772474	chr19:22269603-22269604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182707292	chr19:22269612-22269613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555953032	chr19:22269656-22269657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574177778	chr19:22269668-22269669	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78469303	chr19:22269796-22269797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188235221	chr19:22269807-22269808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138839264	chr19:22269822-22269823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565151808	chr19:22269838-22269839	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374287439	chr19:22269839-22269840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4932746	chr19:22269847-22269848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548860617	chr19:22269877-22269878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140421927	chr19:22269915-22269916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150169628	chr19:22269973-22269974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138627094	chr19:22270028-22270029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192967531	chr19:22270035-22270036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568053347	chr19:22270067-22270068	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6511321	chr19:22270068-22270069	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs78484319	chr19:22270084-22270085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183573737	chr19:22270098-22270099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539563057	chr19:22270148-22270149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558139827	chr19:22270173-22270174	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115319585	chr19:22270211-22270212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16998838	chr19:22270216-22270217	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs149303531	chr19:22270237-22270238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574287439	chr19:22270256-22270257	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188853360	chr19:22270261-22270262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553313914	chr19:22270291-22270292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557570741	chr19:22270316-22270317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147412239	chr19:22270321-22270322	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192397779	chr19:22270412-22270413	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8100768	chr19:22270468-22270469	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76235904	chr19:22270482-22270483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543048113	chr19:22270510-22270511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73930400	chr19:22270544-22270545	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183828765	chr19:22270548-22270549	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547533676	chr19:22270576-22270577	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35365947	chr19:22270621-22270622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373831203	chr19:22270649-22270650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565742980	chr19:22270675-22270676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199666118	chr19:22270762-22270763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200656340	chr19:22270768-22270769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138098306	chr19:22270770-22270771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570207024	chr19:22270799-22270800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367608891	chr19:22270813-22270814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22235800-22270400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr19:22253200-22272400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:22266200-22270800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:22268200-22271200	Weak transcription	Left Ventricle	heart
5	chr19:22268200-22271400	Weak transcription	Pancreas	Pancrea
6	chr19:22268800-22272600	ZNF genes & repeats	Liver	Liver
7	chr19:22269400-22271800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:22269400-22272600	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr19:22270000-22272000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:22270200-22271600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:22270200-22272200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:22270200-22272400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr19:22270200-22273000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
14	chr19:22270400-22271600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
15	chr19:22270400-22272200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:22270400-22272600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
17	chr19:22270600-22271600	Weak transcription	Placenta	Placenta
18	chr19:22270600-22272000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:22270800-22272000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:22270800-22272200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:22270800-22272600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr19:22270800-22272600	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr19:22271000-22271400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:22271000-22271800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:22271000-22272000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
26	chr19:22271000-22272600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
27	chr19:22271200-22271600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr19:22271200-22271800	ZNF genes & repeats	Ovary	ovary
29	chr19:22271200-22272000	ZNF genes & repeats	Left Ventricle	heart
30	chr19:22271400-22271600	ZNF genes & repeats	Pancreas	Pancrea
31	chr19:22271600-22271800	ZNF genes & repeats	Placenta	Placenta
32	chr19:22271800-22272200	Weak transcription	Ovary	ovary
33	chr19:22271800-22273800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:22277800-22279800	ZNF genes & repeats	Liver	Liver
35	chr19:22280200-22280800	ZNF genes & repeats	Liver	Liver
36	chr19:22280600-22280800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
37	chr19:22282400-22284200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr19:22285200-22285600	ZNF genes & repeats	Liver	Liver
39	chr19:22286000-22286800	ZNF genes & repeats	Liver	Liver
40	chr19:22299000-22299200	Active TSS	Liver	Liver
41	chr19:22299200-22299600	Enhancers	Liver	Liver
42	chr19:22299600-22299800	Flanking Active TSS	Liver	Liver
43	chr19:22299800-22300400	Enhancers	Liver	Liver
44	chr19:22300400-22300800	Flanking Active TSS	Liver	Liver
45	chr19:22300800-22301600	Weak transcription	Liver	Liver
46	chr19:22301600-22303200	ZNF genes & repeats	Liver	Liver
47	chr19:22304800-22305200	Enhancers	Liver	Liver
48	chr19:22307400-22308800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr19:22307600-22309200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
50	chr19:22307800-22308600	ZNF genes & repeats	Liver	Liver

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