Variant report

Variant	nsv911433
Chromosome Location	chr19:22036167-22110219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:382)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:22060020-22060497	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:22102785-22103192	A549	lung:	n/a	n/a
3	CEBPB	chr19:22090066-22090727	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr19:22061338-22061572	IMR90	lung:	n/a	n/a
5	CEBPB	chr19:22104001-22104138	A549	lung:	n/a	n/a
6	CEBPB	chr19:22100348-22100568	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:22088543-22089121	A549	lung:	n/a	n/a
8	CEBPB	chr19:22091700-22092444	A549	lung:	n/a	n/a
9	CEBPB	chr19:22106735-22106896	HepG2	liver:	n/a	n/a
10	CEBPB	chr19:22084921-22085294	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:22104378-22104737	A549	lung:	n/a	chr19:22104535-22104546
12	CEBPB	chr19:22090118-22090712	IMR90	lung:	n/a	n/a
13	CEBPB	chr19:22084941-22085259	A549	lung:	n/a	n/a
14	CEBPB	chr19:22061861-22062151	IMR90	lung:	n/a	n/a
15	CEBPB	chr19:22090103-22090793	A549	lung:	n/a	n/a
16	CEBPB	chr19:22061814-22062608	HepG2	liver:	n/a	n/a
17	CEBPB	chr19:22094093-22094347	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:22061270-22061608	HepG2	liver:	n/a	n/a
19	CEBPB	chr19:22102748-22103262	HepG2	liver:	n/a	n/a
20	CEBPB	chr19:22056990-22057226	A549	lung:	n/a	n/a
21	CEBPB	chr19:22098537-22098635	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:22099504-22099948	A549	lung:	n/a	n/a
23	CEBPB	chr19:22098381-22098599	A549	lung:	n/a	n/a
24	CEBPB	chr19:22083325-22083685	A549	lung:	n/a	n/a
25	CEBPB	chr19:22102236-22102538	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:22074282-22074665	A549	lung:	n/a	n/a
27	CEBPB	chr19:22060026-22060520	A549	lung:	n/a	n/a
28	CEBPB	chr19:22102284-22102520	A549	lung:	n/a	n/a
29	CEBPB	chr19:22073980-22074675	HepG2	liver:	n/a	n/a
30	CEBPB	chr19:22064301-22064556	A549	lung:	n/a	n/a
31	CEBPB	chr19:22099724-22099976	HepG2	liver:	n/a	n/a
32	CEBPB	chr19:22091335-22092461	HepG2	liver:	n/a	n/a
33	CEBPB	chr19:22061829-22062612	A549	lung:	n/a	n/a
34	CEBPB	chr19:22088598-22089113	HepG2	liver:	n/a	n/a
35	CEBPB	chr19:22106727-22106966	A549	lung:	n/a	n/a
36	CEBPB	chr19:22094056-22094378	A549	lung:	n/a	n/a
37	CEBPB	chr19:22083371-22083662	HepG2	liver:	n/a	n/a
38	CEBPB	chr19:22058869-22059080	A549	lung:	n/a	n/a
39	CEBPB	chr19:22104391-22104729	HepG2	liver:	n/a	chr19:22104535-22104546
40	CEBPB	chr19:22094044-22094329	IMR90	lung:	n/a	n/a
41	CEBPB	chr19:22089618-22090768	HepG2	liver:	n/a	n/a
42	CEBPB	chr19:22090207-22090581	K562	blood:	n/a	n/a
43	CEBPB	chr19:22102346-22102505	IMR90	lung:	n/a	n/a
44	CEBPB	chr19:22104385-22104715	IMR90	lung:	n/a	chr19:22104535-22104546
45	CEBPB	chr19:22058895-22059134	HepG2	liver:	n/a	n/a
46	CEBPB	chr19:22104528-22104629	K562	blood:	n/a	chr19:22104535-22104546
47	CEBPB	chr19:22060931-22061560	A549	lung:	n/a	n/a
48	CTCF	chr19:22072953-22073115	GM19240	blood:	n/a	n/a
49	CTCF	chr19:22072877-22073253	A549	lung:	n/a	n/a
50	CTCF	chr19:22072969-22073105	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:22037616-22037666	HepG2	liver:	n/a
2	chr19:22037616-22037666	AG04450	lung:	fetal
3	chr19:22037616-22037666	U87	brain:	n/a
4	chr19:22037616-22037666	SKMC	muscle:	n/a
5	chr19:22037616-22037666	HCM	heart:	n/a
6	chr19:22037616-22037666	PANC-1	pancreas:	n/a
7	chr19:22037616-22037666	AG04449	skin:	fetal
8	chr19:22037616-22037666	HEK293	kidney:	embryo
9	chr19:22037616-22037666	NB4	blood:	n/a
10	chr19:22037616-22037666	PFSK-1	brain:	n/a
11	chr19:22037616-22037666	Hela-S3	cervix:	n/a
12	chr19:22037616-22037666	SK-N-SH_RA	brain:	n/a
13	chr19:22037616-22037666	Jurkat	blood:	n/a
14	chr19:22037616-22037666	NHBE	bronchial:	n/a
15	chr19:22037616-22037666	GM12891	blood:	n/a
16	chr19:22037616-22037666	GM19239	blood:	n/a
17	chr19:22037616-22037666	SAEC	small airway:	n/a
18	chr19:22037616-22037666	GM06990	blood:	n/a
19	chr19:22037616-22037666	MCF-7	breast:	n/a
20	chr19:22037616-22037666	HCPEpiC	choroid plexus:	n/a
21	chr19:22037616-22037666	BJ	skin:	n/a
22	chr19:22037616-22037666	GM12892	blood:	n/a
23	chr19:22037616-22037666	HMEC	breast:	n/a
24	chr19:22037616-22037666	Hepatocyte	liver:	n/a
25	chr19:22037616-22037666	AG10803	skin:	n/a
26	chr19:22037616-22037666	HUVEC	blood vessel:	n/a
27	chr19:22037616-22037666	HRPEpiC	eye:	n/a
28	chr19:22037616-22037666	T-47D	breast:	n/a
29	chr19:22037616-22037666	K562	blood:	n/a
30	chr19:22037616-22037666	LNCaP	prostate:	n/a
31	chr19:22037616-22037666	RPTEC	kidney:	n/a
32	chr19:22037616-22037666	HNPCEpiC	eye:	n/a
33	chr19:22037616-22037666	PrEC	prostate:	n/a
34	chr19:22037616-22037666	HEEpiC	esophagus:	n/a
35	chr19:22037616-22037666	MCF10A-Er-Src	breast:	n/a
36	chr19:22037616-22037666	BE2_C	brain:	n/a
37	chr19:22037616-22037666	HCT-116	colon:	n/a
38	chr19:22037616-22037666	GM12878	blood:	n/a
39	chr19:22037616-22037666	ProgFib	skin:	n/a
40	chr19:22037616-22037666	ovcar-3	ovarian:	n/a
41	chr19:22037616-22037666	Caco-2	colon:	n/a
42	chr19:22037616-22037666	HCF	heart:	n/a
43	chr19:22037616-22037666	A549	lung:	n/a
44	chr19:22037616-22037666	CMK	blood:	n/a
45	chr19:22037616-22037666	AoSMC	blood vessel:	n/a
46	chr19:22037616-22037666	ECC-1	luminal epithelium:	n/a
47	chr19:22037616-22037666	HL-60	blood:	n/a
48	chr19:22037616-22037666	HRE	kidney:	n/a
49	chr19:22037616-22037666	HRCEpiC	kidney:	n/a
50	chr19:22037616-22037666	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:22042019..22043696-chr19:22044247..22046757,2	MCF-7	breast:
2	chr19:21686874..21688868-chr19:22034996..22036556,2	MCF-7	breast:
3	chr19:22051797..22053500-chr19:22055067..22056734,2	K562	blood:
4	chr19:22051797..22053500-chr19:22055067..22056734,2	K562	blood:
5	chr19:22042019..22043696-chr19:22044247..22046757,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF257-1	chr19:22085706-22085729	XLOC_013010
2	lnc-ZNF257-4	chr19:22099324-22099462	NONHSAT063754
3	lnc-ZNF257-4	chr19:22097817-22098563	NONHSAT063754
4	lnc-ZNF257-1	chr19:22100052-22101719	XLOC_013010

No data

Variant related genes	Relation type
ZNF43	TF binding region
ZNF43	CpG island
ENSG00000197013	chromatin interactions

Extended variants
information (count: 874 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2435039	chr19:22036167-22036168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146002895	chr19:22036269-22036270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200687820	chr19:22036335-22036336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs398034263	chr19:22036347-22036348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75730509	chr19:22036349-22036350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76875532	chr19:22036399-22036400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541238981	chr19:22036450-22036451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57793689	chr19:22036478-22036479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527986132	chr19:22036483-22036484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183479701	chr19:22036529-22036530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376725942	chr19:22036533-22036534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138633262	chr19:22036659-22036660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534448787	chr19:22036667-22036668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544934736	chr19:22036668-22036669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554548478	chr19:22036669-22036670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149277108	chr19:22036684-22036685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571746816	chr19:22036688-22036689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188416724	chr19:22036696-22036697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144477309	chr19:22036751-22036752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76533593	chr19:22036755-22036756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199988600	chr19:22036777-22036778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557097852	chr19:22036785-22036786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79591850	chr19:22036786-22036787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528542315	chr19:22036881-22036882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547236697	chr19:22036942-22036943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571904092	chr19:22036948-22036949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369284334	chr19:22036978-22036979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539227454	chr19:22036980-22036981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557734502	chr19:22037036-22037037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569405550	chr19:22037078-22037079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148424916	chr19:22037094-22037095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555030970	chr19:22037136-22037137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573704849	chr19:22037168-22037169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534436939	chr19:22037183-22037184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552632556	chr19:22037226-22037227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577453556	chr19:22037348-22037349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544676481	chr19:22037366-22037367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376895780	chr19:22037367-22037368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201050434	chr19:22037388-22037389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2435038	chr19:22037389-22037390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543275416	chr19:22037434-22037435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193220019	chr19:22037462-22037463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375057379	chr19:22037525-22037526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147139056	chr19:22037539-22037540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575407454	chr19:22037540-22037541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386807870	chr19:22037563-22037564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543024263	chr19:22037572-22037573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561098008	chr19:22037619-22037620	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs528470691	chr19:22037654-22037655	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs370031082	chr19:22037656-22037657	Weak transcription	CpG island	1 gene(s)	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22035400-22037000	Weak transcription	Placenta	Placenta
2	chr19:22035400-22041600	Weak transcription	Fetal Kidney	kidney
3	chr19:22035600-22036200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:22035600-22038200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:22037200-22037400	Enhancers	Placenta	Placenta
6	chr19:22038200-22038400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr19:22039000-22040200	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:22039400-22039600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:22039400-22040200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr19:22039600-22040000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:22040000-22040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr19:22041600-22041800	Enhancers	Fetal Kidney	kidney
13	chr19:22056800-22058200	Enhancers	Placenta	Placenta
14	chr19:22058200-22060800	Weak transcription	Placenta	Placenta
15	chr19:22060800-22061200	Enhancers	Placenta	Placenta
16	chr19:22066800-22067400	Active TSS	Ovary	ovary
17	chr19:22067400-22067600	Flanking Active TSS	Ovary	ovary
18	chr19:22074200-22075000	Enhancers	Placenta	Placenta
19	chr19:22082800-22084000	Enhancers	Placenta	Placenta
20	chr19:22089600-22090800	ZNF genes & repeats	Placenta	Placenta
21	chr19:22091200-22091800	Active TSS	Fetal Heart	heart
22	chr19:22093000-22093600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr19:22100600-22102400	ZNF genes & repeats	Adipose Nuclei	Adipose
24	chr19:22101800-22102600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr19:22106600-22108000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:22110000-22111200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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