Variant report

Variant	nsv543955
Chromosome Location	chr19:22263236-22321219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:92)
CpG islands
(count:306)
Chromatin interactive
region (count:1)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:92 , 50 per page) page: 1 2

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	CEBPB	chr19:22316342-22316684	A549	lung:	n/a	n/a
4	CEBPB	chr19:22268451-22268763	K562	blood:	n/a	n/a
5	CEBPB	chr19:22318107-22318751	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr19:22318406-22318779	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:22268516-22268793	IMR90	lung:	n/a	n/a
8	CEBPB	chr19:22320441-22320600	HepG2	liver:	n/a	n/a
9	CEBPB	chr19:22268542-22268703	A549	lung:	n/a	n/a
10	CEBPB	chr19:22316363-22316659	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:22268494-22268820	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:22317520-22317702	HepG2	liver:	n/a	n/a
13	CEBPB	chr19:22320453-22320571	A549	lung:	n/a	n/a
14	CEBPB	chr19:22268460-22268665	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr19:22306400-22306550	HEK293	kidney:	n/a	n/a
16	CTCF	chr19:22278949-22278977	GM20000	blood:	n/a	n/a
17	CTCF	chr19:22288010-22288081	GM13977	blood:	n/a	n/a
18	CTCF	chr19:22295793-22295878	GM20000	blood:	n/a	n/a
19	CTCF	chr19:22294750-22294821	GM13976	blood:	n/a	n/a
20	CTCF	chr19:22306343-22306483	K562	blood:	n/a	n/a
21	E2F4	chr19:22299519-22299743	MCF10A-Er-Src	breast:	n/a	n/a
22	EGR1	chr19:22296773-22296918	GM12878	blood:	n/a	n/a
23	EP300	chr19:22271257-22271259	GM12878	blood:	n/a	n/a
24	GTF2F1	chr19:22272327-22272328	K562	blood:	n/a	n/a
25	JUN	chr19:22270740-22270941	K562	blood:	n/a	n/a
26	KAP1	chr19:22270731-22271627	K562	blood:	n/a	n/a
27	MAFF	chr19:22282921-22283114	HepG2	liver:	n/a	chr19:22282965-22282983
28	MAFF	chr19:22282951-22283148	K562	blood:	n/a	chr19:22282965-22282983
29	MAFK	chr19:22282892-22283214	HepG2	liver:	n/a	n/a
30	MAFK	chr19:22297121-22297622	HepG2	liver:	n/a	chr19:22297456-22297467 chr19:22297456-22297467 chr19:22297455-22297469
31	MAFK	chr19:22302513-22302707	HepG2	liver:	n/a	n/a
32	MAFK	chr19:22282921-22283170	IMR90	lung:	n/a	n/a
33	MAFK	chr19:22265970-22266072	HepG2	liver:	n/a	chr19:22266054-22266069
34	MAFK	chr19:22292980-22293251	HepG2	liver:	n/a	n/a
35	MAFK	chr19:22265982-22266178	HepG2	liver:	n/a	chr19:22266054-22266069
36	MXI1	chr19:22272643-22272654	K562	blood:	n/a	n/a
37	MXI1	chr19:22299486-22299587	GM12878	blood:	n/a	n/a
38	NFYA	chr19:22284050-22284238	GM12878	blood:	n/a	n/a
39	NFYB	chr19:22302257-22302335	GM12878	blood:	n/a	n/a
40	NR2F2	chr19:22304250-22304580	MCF-7	breast:	n/a	n/a
41	NR2F2	chr19:22288926-22289421	K562	blood:	n/a	n/a
42	NR2F2	chr19:22289004-22289283	K562	blood:	n/a	n/a
43	PAX5	chr19:22296677-22296948	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:22294848-22294874	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:22320603-22320873	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr19:22313634-22313785	MCF-7	breast:	n/a	n/a
47	POLR2A	chr19:22320704-22320815	A549	lung:	n/a	n/a
48	POLR2A	chr19:22320397-22320407	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr19:22320614-22320767	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr19:22320643-22320834	A549	lung:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22320869-22320919	AG09309	skin:	n/a
2	chr19:22320869-22320919	AG09309	skin:	n/a
3	chr19:22320869-22320919	NT2-D1	testis:	n/a
4	chr19:22318466-22318516	HRCEpiC	kidney:	n/a
5	chr19:22320975-22321025	BJ	skin:	n/a
6	chr19:22319196-22319246	GM06990	blood:	n/a
7	chr19:22320869-22320919	RPTEC	kidney:	n/a
8	chr19:22319196-22319246	BE2_C	brain:	n/a
9	chr19:22319196-22319246	GM12892	blood:	n/a
10	chr19:22320744-22320794	HRPEpiC	eye:	n/a
11	chr19:22320975-22321025	U87	brain:	n/a
12	chr19:22320869-22320919	Hepatocyte	liver:	n/a
13	chr19:22320744-22320794	HMEC	breast:	n/a
14	chr19:22320869-22320919	LNCaP	prostate:	n/a
15	chr19:22320744-22320794	HCF	heart:	n/a
16	chr19:22320869-22320919	HUVEC	blood vessel:	n/a
17	chr19:22320975-22321025	Hela-S3	cervix:	n/a
18	chr19:22318466-22318516	GM19239	blood:	n/a
19	chr19:22320744-22320794	GM19239	blood:	n/a
20	chr19:22319196-22319246	LNCaP	prostate:	n/a
21	chr19:22320975-22321025	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:22320975-22321025	LNCaP	prostate:	n/a
23	chr19:22320744-22320794	NB4	blood:	n/a
24	chr19:22320744-22320794	AG09309	skin:	n/a
25	chr19:22320869-22320919	SK-N-SH	brain:	n/a
26	chr19:22320869-22320919	HCT-116	colon:	n/a
27	chr19:22320869-22320919	PrEC	prostate:	n/a
28	chr19:22319196-22319246	AG09319	gingival:	n/a
29	chr19:22320869-22320919	HIPEpiC	eye:	n/a
30	chr19:22319196-22319246	BJ	skin:	n/a
31	chr19:22320975-22321025	GM12891	blood:	n/a
32	chr19:22320744-22320794	AG04450	lung:	fetal
33	chr19:22318466-22318516	HIPEpiC	eye:	n/a
34	chr19:22320975-22321025	RPTEC	kidney:	n/a
35	chr19:22320744-22320794	BJ	skin:	n/a
36	chr19:22320975-22321025	SK-N-MC	brain:	n/a
37	chr19:22320975-22321025	AG09319	gingival:	n/a
38	chr19:22318466-22318516	T-47D	breast:	n/a
39	chr19:22320744-22320794	HRE	kidney:	n/a
40	chr19:22318466-22318516	SKMC	muscle:	n/a
41	chr19:22318466-22318516	ovcar-3	ovarian:	n/a
42	chr19:22318466-22318516	PFSK-1	brain:	n/a
43	chr19:22320744-22320794	GM06990	blood:	n/a
44	chr19:22319196-22319246	Hepatocyte	liver:	n/a
45	chr19:22320869-22320919	T-47D	breast:	n/a
46	chr19:22319196-22319246	SK-N-MC	brain:	n/a
47	chr19:22318466-22318516	NB4	blood:	n/a
48	chr19:22319196-22319246	HAEpiC	amniotic membrane:	n/a
49	chr19:22320975-22321025	Caco-2	colon:	n/a
50	chr19:22319196-22319246	K562	blood:	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:4 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1043 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:1043 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576064853	chr19:22263245-22263246	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561302815	chr19:22263286-22263287	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150572210	chr19:22263326-22263327	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113344559	chr19:22263333-22263334	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559580493	chr19:22263368-22263369	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533100883	chr19:22263369-22263370	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551523733	chr19:22263379-22263380	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201559003	chr19:22263399-22263400	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192327494	chr19:22263402-22263403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200937404	chr19:22263403-22263404	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147989821	chr19:22263406-22263407	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183646663	chr19:22263414-22263415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549500803	chr19:22263416-22263417	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139565746	chr19:22263428-22263429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149705640	chr19:22263446-22263447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147785793	chr19:22263476-22263477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571882464	chr19:22263488-22263489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200550750	chr19:22263507-22263508	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538979826	chr19:22263519-22263520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189037601	chr19:22263543-22263544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377504628	chr19:22263544-22263545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76171518	chr19:22263565-22263566	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575437281	chr19:22263601-22263602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561346987	chr19:22263656-22263657	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142369824	chr19:22263660-22263661	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35481296	chr19:22263685-22263686	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202179176	chr19:22263698-22263699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542862371	chr19:22263742-22263743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139467128	chr19:22263743-22263744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190921765	chr19:22263766-22263767	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78424261	chr19:22263800-22263801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144992766	chr19:22263802-22263803	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372273030	chr19:22263847-22263848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374866614	chr19:22263857-22263858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147750935	chr19:22263863-22263864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182130342	chr19:22263872-22263873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530825031	chr19:22263979-22263980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12609368	chr19:22263996-22263997	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs142658019	chr19:22264040-22264041	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530721782	chr19:22264054-22264055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187092959	chr19:22264056-22264057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561352437	chr19:22264143-22264144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73019868	chr19:22264208-22264209	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73019869	chr19:22264215-22264216	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150822714	chr19:22264232-22264233	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143385332	chr19:22264278-22264279	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371455680	chr19:22264397-22264398	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546940390	chr19:22264402-22264403	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375339689	chr19:22264456-22264457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571562415	chr19:22264532-22264533	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:81 , 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	chr19:22258800-22265200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:22260000-22264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:22261000-22264200	Weak transcription	Fetal Intestine Large	intestine
6	chr19:22261400-22263400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:22261800-22263400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr19:22261800-22266200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:22262000-22263400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
10	chr19:22262000-22263400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:22262200-22263400	ZNF genes & repeats	Primary B cells from cord blood	blood
12	chr19:22262200-22263400	Strong transcription	Pancreas	Pancrea
13	chr19:22263000-22263400	ZNF genes & repeats	Aorta	Aorta
14	chr19:22263200-22267600	Weak transcription	Ovary	ovary
15	chr19:22263400-22264400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr19:22263400-22264400	Weak transcription	Pancreas	Pancrea
17	chr19:22263400-22265000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr19:22263400-22265200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:22263400-22266800	Weak transcription	Primary B cells from cord blood	blood
20	chr19:22264200-22265000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr19:22264400-22266200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:22265000-22266000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr19:22265000-22266000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
24	chr19:22265000-22267800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:22265200-22265400	ZNF genes & repeats	Pancreas	Pancrea
26	chr19:22265200-22266000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr19:22265200-22266200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:22265600-22266000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
29	chr19:22266200-22270800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:22267600-22267800	ZNF genes & repeats	Ovary	ovary
31	chr19:22268000-22268200	ZNF genes & repeats	Pancreas	Pancrea
32	chr19:22268200-22271200	Weak transcription	Left Ventricle	heart
33	chr19:22268200-22271400	Weak transcription	Pancreas	Pancrea
34	chr19:22268800-22272600	ZNF genes & repeats	Liver	Liver
35	chr19:22269400-22271800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:22269400-22272600	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:22270000-22272000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:22270200-22271600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr19:22270200-22272200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:22270200-22272400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr19:22270200-22273000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr19:22270400-22271600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
43	chr19:22270400-22272200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
44	chr19:22270400-22272600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
45	chr19:22270600-22271600	Weak transcription	Placenta	Placenta
46	chr19:22270600-22272000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:22270800-22272000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr19:22270800-22272200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:22270800-22272600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
50	chr19:22270800-22272600	ZNF genes & repeats	Adipose Nuclei	Adipose

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