Variant report

Variant	nsv961195
Chromosome Location	chr19:22035429-22051358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:22040892-22040933	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr19:22040160-22040310	A549	lung:	n/a	n/a
3	CTCF	chr19:22039589-22039646	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr19:22039880-22040030	NHEK	skin:	n/a	n/a
5	CTCF	chr19:22045909-22045947	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr19:22040000-22040150	NHEK	skin:	n/a	chr19:22040087-22040105 chr19:22040090-22040103
7	GTF2F1	chr19:22039782-22039856	H1-hESC	embryonic stem cell:	n/a	n/a
8	KAP1	chr19:22034455-22035532	HEK293	kidney:	n/a	n/a
9	MAFK	chr19:22046098-22046378	HepG2	liver:	n/a	n/a
10	MAFK	chr19:22046203-22046308	HepG2	liver:	n/a	n/a
11	MAX	chr19:22034491-22035572	NB4	blood:	n/a	chr19:22035516-22035525 chr19:22035025-22035035
12	MXI1	chr19:22033396-22035550	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr19:22041673-22041690	MCF-7	breast:	n/a	n/a
14	POLR2A	chr19:22043574-22043755	K562	blood:	n/a	n/a
15	POLR2A	chr19:22040448-22040505	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:22038635-22038684	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr19:22040399-22040471	MCF-7	breast:	n/a	n/a
18	POLR2A	chr19:22043056-22043256	K562	blood:	n/a	n/a
19	REST	chr19:22034030-22035487	H1-neurons	neurons:	n/a	chr19:22034600-22034613 chr19:22034556-22034569
20	RXRA	chr19:22047570-22047884	HepG2	liver:	n/a	n/a
21	RXRA	chr19:22047574-22047668	HepG2	liver:	n/a	n/a
22	SETDB1	chr19:22034525-22035441	U2OS	brain:	n/a	chr19:22034844-22034868
23	USF1	chr19:22047570-22047641	HepG2	liver:	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	HMEC	breast:	n/a
2	chr19:22037616-22037666	SKMC	muscle:	n/a
3	chr19:22037616-22037666	PFSK-1	brain:	n/a
4	chr19:22037616-22037666	A549	lung:	n/a
5	chr19:22037616-22037666	AG09309	skin:	n/a
6	chr19:22037616-22037666	NT2-D1	testis:	n/a
7	chr19:22037616-22037666	HepG2	liver:	n/a
8	chr19:22037616-22037666	K562	blood:	n/a
9	chr19:22037616-22037666	SK-N-SH	brain:	n/a
10	chr19:22037616-22037666	NB4	blood:	n/a
11	chr19:22037616-22037666	AG09319	gingival:	n/a
12	chr19:22037616-22037666	BJ	skin:	n/a
13	chr19:22037616-22037666	ProgFib	skin:	n/a
14	chr19:22037616-22037666	SK-N-SH_RA	brain:	n/a
15	chr19:22037616-22037666	T-47D	breast:	n/a
16	chr19:22037616-22037666	SK-N-MC	brain:	n/a
17	chr19:22037616-22037666	HRPEpiC	eye:	n/a
18	chr19:22037616-22037666	AG04449	skin:	fetal
19	chr19:22037616-22037666	GM12878	blood:	n/a
20	chr19:22037616-22037666	ovcar-3	ovarian:	n/a
21	chr19:22037616-22037666	U87	brain:	n/a
22	chr19:22037616-22037666	HCT-116	colon:	n/a
23	chr19:22037616-22037666	ECC-1	luminal epithelium:	n/a
24	chr19:22037616-22037666	HEEpiC	esophagus:	n/a
25	chr19:22037616-22037666	HCF	heart:	n/a
26	chr19:22037616-22037666	HUVEC	blood vessel:	n/a
27	chr19:22037616-22037666	Jurkat	blood:	n/a
28	chr19:22037616-22037666	AoSMC	blood vessel:	n/a
29	chr19:22037616-22037666	AG04450	lung:	fetal
30	chr19:22037616-22037666	LNCaP	prostate:	n/a
31	chr19:22037616-22037666	GM12891	blood:	n/a
32	chr19:22037616-22037666	HRCEpiC	kidney:	n/a
33	chr19:22037616-22037666	H1-hESC	embryonic stem cell:	embryo
34	chr19:22037616-22037666	GM06990	blood:	n/a
35	chr19:22037616-22037666	HCM	heart:	n/a
36	chr19:22037616-22037666	PrEC	prostate:	n/a
37	chr19:22037616-22037666	BE2_C	brain:	n/a
38	chr19:22037616-22037666	Caco-2	colon:	n/a
39	chr19:22037616-22037666	Hepatocyte	liver:	n/a
40	chr19:22037616-22037666	MCF10A-Er-Src	breast:	n/a
41	chr19:22037616-22037666	IMR90	lung:	fetal
42	chr19:22037616-22037666	HAEpiC	amniotic membrane:	n/a
43	chr19:22037616-22037666	NHDF-neo	bronchial:	n/a
44	chr19:22037616-22037666	RPTEC	kidney:	n/a
45	chr19:22037616-22037666	GM12892	blood:	n/a
46	chr19:22037616-22037666	HIPEpiC	eye:	n/a
47	chr19:22037616-22037666	HRE	kidney:	n/a
48	chr19:22037616-22037666	HL-60	blood:	n/a
49	chr19:22037616-22037666	HNPCEpiC	eye:	n/a
50	chr19:22037616-22037666	HCPEpiC	choroid plexus:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:21686874..21688868-chr19:22034996..22036556,2	MCF-7	breast:
2	chr19:21950144..21952867-chr19:22033592..22036117,2	MCF-7	breast:
3	chr19:22042019..22043696-chr19:22044247..22046757,2	MCF-7	breast:
4	chr19:22042019..22043696-chr19:22044247..22046757,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF43	TF binding region
ZNF43	CpG island
ENSG00000197020	chromatin interactions
ENSG00000197013	chromatin interactions

Extended variants
information (count: 225 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:225 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565023743	chr19:22035438-22035439	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs559234686	chr19:22035483-22035484	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs185191063	chr19:22035484-22035485	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs79399369	chr19:22035506-22035507	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs551381025	chr19:22035538-22035539	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs2435040	chr19:22035607-22035608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376614165	chr19:22035663-22035664	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs530794491	chr19:22035695-22035696	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549495019	chr19:22035761-22035762	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189970713	chr19:22035773-22035774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535222422	chr19:22035817-22035818	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61342548	chr19:22035856-22035857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182626058	chr19:22035876-22035877	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs571985664	chr19:22035988-22035989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs369012853	chr19:22036001-22036002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74929327	chr19:22036002-22036003	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs188435045	chr19:22036012-22036013	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs79934661	chr19:22036013-22036014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs61147286	chr19:22036014-22036015	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs78371609	chr19:22036015-22036016	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192899746	chr19:22036085-22036086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs142655602	chr19:22036103-22036104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2435039	chr19:22036167-22036168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs146002895	chr19:22036269-22036270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200687820	chr19:22036335-22036336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs398034263	chr19:22036347-22036348	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75730509	chr19:22036349-22036350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76875532	chr19:22036399-22036400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs541238981	chr19:22036450-22036451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs57793689	chr19:22036478-22036479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs527986132	chr19:22036483-22036484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs183479701	chr19:22036529-22036530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376725942	chr19:22036533-22036534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs138633262	chr19:22036659-22036660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534448787	chr19:22036667-22036668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544934736	chr19:22036668-22036669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554548478	chr19:22036669-22036670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149277108	chr19:22036684-22036685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571746816	chr19:22036688-22036689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188416724	chr19:22036696-22036697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144477309	chr19:22036751-22036752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76533593	chr19:22036755-22036756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199988600	chr19:22036777-22036778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557097852	chr19:22036785-22036786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79591850	chr19:22036786-22036787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528542315	chr19:22036881-22036882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547236697	chr19:22036942-22036943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571904092	chr19:22036948-22036949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369284334	chr19:22036978-22036979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539227454	chr19:22036980-22036981	Weak transcription	n/a	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22033800-22035600	Active TSS	Brain Hippocampus Middle	brain
2	chr19:22034000-22035600	Active TSS	A549	lung
3	chr19:22035000-22035600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr19:22035000-22035600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr19:22035000-22035600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr19:22035000-22035600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:22035000-22035600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:22035000-22035600	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr19:22035000-22035600	Flanking Active TSS	Dnd41	blood
10	chr19:22035200-22035600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:22035200-22035600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:22035400-22035600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:22035400-22035600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr19:22035400-22035600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr19:22035400-22035600	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:22035400-22035600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:22035400-22035600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:22035400-22035600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:22035400-22035600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:22035400-22035600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr19:22035400-22035600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:22035400-22035600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr19:22035400-22035600	Enhancers	Brain Angular Gyrus	brain
24	chr19:22035400-22035600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:22035400-22035800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:22035400-22037000	Weak transcription	Placenta	Placenta
27	chr19:22035400-22041600	Weak transcription	Fetal Kidney	kidney
28	chr19:22035600-22036200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr19:22035600-22038200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:22037200-22037400	Enhancers	Placenta	Placenta
31	chr19:22038200-22038400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr19:22039000-22040200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr19:22039400-22039600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr19:22039400-22040200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr19:22039600-22040000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr19:22040000-22040400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr19:22041600-22041800	Enhancers	Fetal Kidney	kidney

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