Variant report

Variant	nsv1024405
Chromosome Location	chr8:125868684-125971035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1363)
CpG islands
(count:793)
Chromatin interactive
region (count:221)
LncRNA
region (count:60)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:125900673-125900854	K562	blood:	n/a	n/a
2	ARID3A	chr8:125968314-125968740	K562	blood:	n/a	n/a
3	ARID3A	chr8:125901038-125901235	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:125959149-125959495	K562	blood:	n/a	n/a
5	ARID3A	chr8:125908468-125908925	K562	blood:	n/a	n/a
6	ARID3A	chr8:125966603-125967372	K562	blood:	n/a	n/a
7	ARID3A	chr8:125965989-125966276	HepG2	liver:	n/a	n/a
8	ARID3A	chr8:125933570-125933749	K562	blood:	n/a	n/a
9	ARID3A	chr8:125965948-125966301	K562	blood:	n/a	n/a
10	ATF1	chr8:125968064-125968678	K562	blood:	n/a	n/a
11	ATF1	chr8:125966714-125967187	K562	blood:	n/a	n/a
12	ATF1	chr8:125928450-125928874	K562	blood:	n/a	n/a
13	ATF1	chr8:125954147-125954286	K562	blood:	n/a	n/a
14	ATF1	chr8:125878752-125879325	K562	blood:	n/a	n/a
15	ATF1	chr8:125908608-125908907	K562	blood:	n/a	n/a
16	ATF2	chr8:125966197-125966431	GM12878	blood:	n/a	n/a
17	ATF3	chr8:125959119-125959487	K562	blood:	n/a	n/a
18	ATF3	chr8:125878776-125879119	K562	blood:	n/a	n/a
19	BACH1	chr8:125908632-125908898	K562	blood:	n/a	n/a
20	BACH1	chr8:125959149-125959549	K562	blood:	n/a	n/a
21	BACH1	chr8:125959206-125959450	H1-hESC	embryonic stem cell:	n/a	n/a
22	BATF	chr8:125939175-125939373	GM12878	blood:	n/a	n/a
23	BHLHE40	chr8:125875515-125875677	K562	blood:	n/a	chr8:125875617-125875638
24	BHLHE40	chr8:125933441-125933943	K562	blood:	n/a	n/a
25	BHLHE40	chr8:125968224-125968813	K562	blood:	n/a	chr8:125968597-125968613
26	BHLHE40	chr8:125908463-125909012	K562	blood:	n/a	n/a
27	BHLHE40	chr8:125966753-125967140	K562	blood:	n/a	n/a
28	BHLHE40	chr8:125900445-125901363	K562	blood:	n/a	n/a
29	BHLHE40	chr8:125959343-125959371	K562	blood:	n/a	n/a
30	BHLHE40	chr8:125929844-125930075	HepG2	liver:	n/a	n/a
31	BHLHE40	chr8:125943297-125943365	K562	blood:	n/a	n/a
32	BHLHE40	chr8:125878772-125879205	K562	blood:	n/a	n/a
33	BHLHE40	chr8:125933419-125933941	HepG2	liver:	n/a	n/a
34	BHLHE40	chr8:125951792-125952095	K562	blood:	n/a	n/a
35	BHLHE40	chr8:125928524-125928595	K562	blood:	n/a	n/a
36	CBX3	chr8:125959063-125959635	HCT-116	colon:	n/a	n/a
37	CBX3	chr8:125959175-125959580	HCT-116	colon:	n/a	n/a
38	CBX3	chr8:125944665-125944998	K562	blood:	n/a	n/a
39	CBX3	chr8:125966759-125967164	K562	blood:	n/a	n/a
40	CBX3	chr8:125910939-125911313	K562	blood:	n/a	n/a
41	CBX3	chr8:125912700-125913017	K562	blood:	n/a	n/a
42	CBX3	chr8:125933587-125933946	K562	blood:	n/a	n/a
43	CBX3	chr8:125923908-125924355	HCT-116	colon:	n/a	n/a
44	CBX3	chr8:125968367-125968667	K562	blood:	n/a	n/a
45	CBX3	chr8:125968019-125968807	K562	blood:	n/a	n/a
46	CBX3	chr8:125900922-125901373	K562	blood:	n/a	n/a
47	CBX3	chr8:125959074-125959521	K562	blood:	n/a	n/a
48	CBX3	chr8:125912613-125913103	K562	blood:	n/a	n/a
49	CBX3	chr8:125923754-125924490	K562	blood:	n/a	n/a
50	CBX3	chr8:125923774-125924391	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125951852-125951902	SK-N-MC	brain:	n/a
2	chr8:125953928-125953978	Caco-2	colon:	n/a
3	chr8:125953928-125953978	HMEC	breast:	n/a
4	chr8:125935564-125935614	HCPEpiC	choroid plexus:	n/a
5	chr8:125954919-125954969	PrEC	prostate:	n/a
6	chr8:125935564-125935614	RPTEC	kidney:	n/a
7	chr8:125951124-125951174	SAEC	small airway:	n/a
8	chr8:125935547-125935597	RPTEC	kidney:	n/a
9	chr8:125935564-125935614	U87	brain:	n/a
10	chr8:125935564-125935614	BJ	skin:	n/a
11	chr8:125934433-125934483	AG10803	skin:	n/a
12	chr8:125951852-125951902	HMEC	breast:	n/a
13	chr8:125935564-125935614	HAEpiC	amniotic membrane:	n/a
14	chr8:125953473-125953523	MCF10A-Er-Src	breast:	n/a
15	chr8:125954151-125954201	NHDF-neo	bronchial:	n/a
16	chr8:125954151-125954201	AG09319	gingival:	n/a
17	chr8:125953928-125953978	LNCaP	prostate:	n/a
18	chr8:125953473-125953523	Jurkat	blood:	n/a
19	chr8:125951124-125951174	AG04450	lung:	fetal
20	chr8:125935564-125935614	PrEC	prostate:	n/a
21	chr8:125879270-125879320	MCF-7	breast:	n/a
22	chr8:125954919-125954969	BE2_C	brain:	n/a
23	chr8:125951852-125951902	ECC-1	luminal epithelium:	n/a
24	chr8:125934433-125934483	GM19239	blood:	n/a
25	chr8:125954151-125954201	HCM	heart:	n/a
26	chr8:125954919-125954969	HL-60	blood:	n/a
27	chr8:125951226-125951276	HRCEpiC	kidney:	n/a
28	chr8:125951852-125951902	HCF	heart:	n/a
29	chr8:125954151-125954201	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:125953928-125953978	ECC-1	luminal epithelium:	n/a
31	chr8:125954151-125954201	HNPCEpiC	eye:	n/a
32	chr8:125954919-125954969	PANC-1	pancreas:	n/a
33	chr8:125951124-125951174	K562	blood:	n/a
34	chr8:125935564-125935614	HCF	heart:	n/a
35	chr8:125953473-125953523	ECC-1	luminal epithelium:	n/a
36	chr8:125928410-125928460	IMR90	lung:	fetal
37	chr8:125935547-125935597	AoSMC	blood vessel:	n/a
38	chr8:125928410-125928460	T-47D	breast:	n/a
39	chr8:125928410-125928460	HCPEpiC	choroid plexus:	n/a
40	chr8:125935564-125935614	HCT-116	colon:	n/a
41	chr8:125953473-125953523	GM12878	blood:	n/a
42	chr8:125953232-125953282	HEEpiC	esophagus:	n/a
43	chr8:125879270-125879320	SK-N-SH	brain:	n/a
44	chr8:125879270-125879320	Hepatocyte	liver:	n/a
45	chr8:125879270-125879320	HEEpiC	esophagus:	n/a
46	chr8:125951852-125951902	GM19239	blood:	n/a
47	chr8:125951226-125951276	ProgFib	skin:	n/a
48	chr8:125879270-125879320	HRPEpiC	eye:	n/a
49	chr8:125928410-125928460	SK-N-MC	brain:	n/a
50	chr8:125951226-125951276	AG04450	lung:	fetal

(count:221 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr8:125869478..125872586-chr8:125926416..125930050,3	MCF-7	breast:
2	chr8:125550619..125552268-chr8:125900750..125903343,2	MCF-7	breast:
3	chr8:125826052..125832853-chr8:125963334..125969415,10	K562	blood:
4	chr8:125968439..125970169-chr8:125972216..125975033,2	K562	blood:
5	chr8:125940963..125943523-chr8:125950318..125952759,2	K562	blood:
6	chr8:125869656..125872568-chr8:125963654..125965352,2	MCF-7	breast:
7	chr8:125604990..125605930-chr8:125936492..125937604,6	MCF-7	breast:
8	chr8:125869256..125871010-chr8:125940033..125942107,2	MCF-7	breast:
9	chr8:125933161..125934935-chr8:125937599..125940481,2	K562	blood:
10	chr8:125952214..125954689-chr8:125960031..125962252,3	K562	blood:
11	chr8:125908171..125909770-chr8:125964003..125966026,2	MCF-7	breast:
12	chr8:125928235..125930086-chr8:125931694..125934034,2	K562	blood:
13	chr8:125921782..125924509-chr8:125964835..125967359,2	K562	blood:
14	chr8:125874240..125876735-chr8:125982573..125984700,2	MCF-7	breast:
15	chr8:125928235..125930330-chr8:125931694..125933573,2	K562	blood:
16	chr8:125901791..125903358-chr8:125908573..125910554,2	K562	blood:
17	chr8:125877381..125879616-chr8:125926000..125927902,2	MCF-7	breast:
18	chr8:125908171..125909770-chr8:125964003..125966026,2	MCF-7	breast:
19	chr8:125878085..125882426-chr8:125889275..125893034,5	MCF-7	breast:
20	chr8:125858857..125860537-chr8:125866722..125869065,2	K562	blood:
21	chr8:125952528..125955294-chr8:125957402..125959514,3	MCF-7	breast:
22	chr8:125551315..125552840-chr8:125959019..125961791,2	MCF-7	breast:
23	chr8:125604962..125605859-chr8:125900709..125901612,4	MCF-7	breast:
24	chr8:125890513..125892129-chr8:125892200..125894827,2	MCF-7	breast:
25	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:
26	chr8:125784610..125786234-chr8:125867558..125869281,2	MCF-7	breast:
27	chr8:125568595..125569388-chr8:125965954..125966570,2	MCF-7	breast:
28	chr8:125938308..125939928-chr8:126010677..126012265,2	MCF-7	breast:
29	chr8:125928560..125931491-chr8:125949569..125951872,2	MCF-7	breast:
30	chr8:125550224..125552567-chr8:125866024..125869160,3	MCF-7	breast:
31	chr8:125867918..125869705-chr8:125935657..125937307,2	MCF-7	breast:
32	chr8:125922613..125924246-chr8:125927138..125929372,2	MCF-7	breast:
33	chr1:117602865..117605635-chr8:125927109..125929309,2	MCF-7	breast:
34	chr8:125900652..125901659-chr8:125936406..125937477,4	MCF-7	breast:
35	chr8:125865723..125867850-chr8:125937365..125941183,3	MCF-7	breast:
36	chr8:125946616..125949550-chr8:125950164..125955159,6	MCF-7	breast:
37	chr8:125826307..125827972-chr8:125936472..125938461,2	MCF-7	breast:
38	chr8:125954639..125958551-chr8:125984669..125987266,3	MCF-7	breast:
39	chr8:125966414..125968159-chr8:125969946..125971937,2	MCF-7	breast:
40	chr8:125965898..125966504-chr8:126009083..126009604,2	MCF-7	breast:
41	chr8:125865612..125869079-chr8:125880242..125881990,3	K562	blood:
42	chr8:125965221..125967859-chr8:126009015..126011042,3	MCF-7	breast:
43	chr8:125738536..125741882-chr8:125934456..125936858,4	MCF-7	breast:
44	chr8:125891889..125894813-chr8:125896183..125898744,2	K562	blood:
45	chr8:125968809..125971198-chr8:125975245..125977823,2	K562	blood:
46	chr8:125739389..125740368-chr8:125936287..125937224,3	MCF-7	breast:
47	chr8:125794468..125796266-chr8:125877977..125879830,2	MCF-7	breast:
48	chr8:125793496..125794040-chr8:125869034..125869649,2	MCF-7	breast:
49	chr8:125900667..125902302-chr8:125902732..125904411,2	MCF-7	breast:
50	chr8:125962308..125964397-chr8:125966591..125968437,2	K562	blood:

(count:60 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF572-1	chr8:125953511-125953789	XLOC_006916
2	lnc-ZNF572-1	chr8:125958297-125958401	XLOC_006916
3	lnc-ZNF572-1	chr8:125963058-125963329	NONHSAT128939
4	lnc-ZNF572-1	chr8:125955738-125957988	NONHSAT128939
5	lnc-ZNF572-1	chr8:125957880-125957988	XLOC_006916
6	lnc-ZNF572-1	chr8:125952137-125952611	XLOC_006916
7	lnc-ZNF572-1	chr8:125957880-125957988	ENSG00000249816
8	lnc-ZNF572-1	chr8:125958297-125958401	ENSG00000249816
9	lnc-ZNF572-1	chr8:125956809-125956854	ENSG00000249816
10	lnc-ZNF572-1	chr8:125957880-125957988	ENSG00000249816
11	lnc-ZNF572-1	chr8:125953705-125953789	XLOC_006916
12	lnc-ZNF572-1	chr8:125963058-125963339	ENSG00000249816
13	lnc-ZNF572-1	chr8:125963058-125963408	XLOC_006916
14	lnc-ZNF572-1	chr8:125955512-125955625	ENSG00000249816
15	lnc-ZNF572-1	chr8:125963058-125963337	ENSG00000249816
16	lnc-ZNF572-1	chr8:125953705-125953789	XLOC_006916
17	lnc-KIAA0196-6	chr8:125952283-125954162	NONHSAT128911
18	lnc-ZNF572-1	chr8:125958297-125958401	XLOC_006916
19	lnc-ZNF572-1	chr8:125955512-125957988	XLOC_006916
20	lnc-ZNF572-1	chr8:125958297-125958401	ENSG00000249816
21	lnc-ZNF572-1	chr8:125963058-125963408	XLOC_006916
22	lnc-ZNF572-1	chr8:125963058-125963553	XLOC_006916
23	lnc-ZNF572-1	chr8:125963058-125963336	ENSG00000249816
24	lnc-ZNF572-1	chr8:125959785-125960034	ENSG00000249816
25	lnc-KIAA0196-2	chr8:125948680-125949042	NONHSAT128866
26	lnc-ZNF572-1	chr8:125958297-125958401	ENSG00000249816
27	lnc-KIAA0196-2	chr8:125947429-125949042	XLOC_007207
28	lnc-KIAA0196-2	chr8:125949950-125951274	XLOC_007207
29	lnc-ZNF572-1	chr8:125958297-125958401	XLOC_006916
30	lnc-ZNF572-1	chr8:125958238-125958401	ENSG00000249816
31	lnc-ZNF572-1	chr8:125953511-125953789	XLOC_006916
32	lnc-ZNF572-1	chr8:125954341-125954966	ENSG00000249816
33	lnc-ZNF572-1	chr8:125957880-125957988	XLOC_006916
34	lnc-ZNF572-1	chr8:125953511-125953789	XLOC_006916
35	lnc-ZNF572-1	chr8:125957880-125957988	XLOC_006916
36	lnc-ZNF572-1	chr8:125954297-125954966	ENSG00000249816
37	lnc-ZNF572-1	chr8:125958297-125958401	XLOC_006916
38	lnc-ZNF572-1	chr8:125963058-125963337	XLOC_006916
39	lnc-ZNF572-1	chr8:125956421-125957988	ENSG00000249816
40	lnc-ZNF572-1	chr8:125957880-125957988	XLOC_006916
41	lnc-ZNF572-1	chr8:125963058-125963404	XLOC_006916
42	lnc-KIAA0196-2	chr8:125949950-125950089	ENSG00000255313
43	lnc-ZNF572-1	chr8:125963058-125963419	ENSG00000249816
44	lnc-ZNF572-1	chr8:125953701-125953789	XLOC_006916
45	lnc-ZNF572-1	chr8:125955512-125957988	ENSG00000249816
46	lnc-KIAA0196-2	chr8:125949846-125950590	NONHSAT128866
47	lnc-ZNF572-1	chr8:125954994-125955132	XLOC_006916
48	lnc-ZNF572-1	chr8:125957880-125957988	XLOC_006916
49	lnc-ZNF572-1	chr8:125963058-125963338	ENSG00000249816
50	lnc-ZNF572-1	chr8:125957254-125957293	ENSG00000249816

No data

Variant related genes	Relation type
ENSG00000255080	TF binding region
ENSG00000255313	TF binding region
LINC00964	TF binding region
ENSG00000250428	TF binding region
ENSG00000255080	CpG island
ENSG00000255313	CpG island
LINC00964	CpG island
ENSG00000250428	CpG island
ENSG00000116830	chromatin interactions
ENSG00000104549	chromatin interactions
ENSG00000250428	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000255080	chromatin interactions
ENSG00000170873	chromatin interactions
ENSG00000180938	chromatin interactions
ENSG00000253513	chromatin interactions
ENSG00000255491	chromatin interactions
ENSG00000255313	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000249816	chromatin interactions
CCNY	miRNA target sites
BAT2L1	miRNA target sites
UGT2A1	miRNA target sites
FKBP15	miRNA target sites
MLL3	miRNA target sites
FKBP1A	miRNA target sites
DPYSL2	miRNA target sites
GDAP1	miRNA target sites
RND3	miRNA target sites
EDC3	miRNA target sites
HTR2C	miRNA target sites
POLR3G	miRNA target sites
TP53	miRNA target sites
PKP4	miRNA target sites
PDCD4	miRNA target sites
LEMD3	miRNA target sites
PERP	miRNA target sites
PMEPA1	miRNA target sites
IGF2BP2	miRNA target sites
MDM2	miRNA target sites
MYB	miRNA target sites
BAK1	miRNA target sites
ENOSF1	miRNA target sites
VEGFA	miRNA target sites

Extended variants
information (count: 4127 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:4127 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562688761	chr8:125868689-125868690	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs143394308	chr8:125868711-125868712	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs551675109	chr8:125868712-125868713	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs564490947	chr8:125868737-125868738	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs574915096	chr8:125868767-125868768	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs377592403	chr8:125868779-125868780	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs112573674	chr8:125868822-125868823	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs147151736	chr8:125868864-125868865	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs566891088	chr8:125868915-125868916	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs529881496	chr8:125868939-125868940	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs188828532	chr8:125869013-125869014	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs549339114	chr8:125869024-125869025	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs77852220	chr8:125869026-125869027	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs538163607	chr8:125869032-125869033	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs557988854	chr8:125869099-125869100	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs577221709	chr8:125869117-125869118	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs181294040	chr8:125869143-125869144	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs534773284	chr8:125869150-125869151	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs553720996	chr8:125869182-125869183	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs117835247	chr8:125869235-125869236	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs374251974	chr8:125869251-125869252	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs542687146	chr8:125869279-125869280	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs3923682	chr8:125869280-125869281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576272226	chr8:125869287-125869288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs73334185	chr8:125869297-125869298	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs565223184	chr8:125869312-125869313	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs10956220	chr8:125869320-125869321	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540300689	chr8:125869341-125869342	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs60592742	chr8:125869397-125869398	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs373755032	chr8:125869430-125869431	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs145295381	chr8:125869439-125869440	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs549421678	chr8:125869441-125869442	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs6470293	chr8:125869503-125869504	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs531744803	chr8:125869510-125869511	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs185930070	chr8:125869515-125869516	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs571648915	chr8:125869525-125869526	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs148775978	chr8:125869539-125869540	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs11774426	chr8:125869582-125869583	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79891149	chr8:125869683-125869684	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs535982252	chr8:125869718-125869719	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs200909423	chr8:125869725-125869726	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs11282965	chr8:125869726-125869727	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs11280833	chr8:125869729-125869730	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs76861160	chr8:125869730-125869731	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs74875270	chr8:125869734-125869735	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs7835994	chr8:125869751-125869752	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs4870930	chr8:125869770-125869771	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs142439194	chr8:125869787-125869788	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs558767316	chr8:125869806-125869807	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs77357780	chr8:125869846-125869847	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125861400-125869000	Weak transcription	Ovary	ovary
2	chr8:125863800-125869000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:125866200-125869000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:125866200-125869400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:125866400-125869000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:125866400-125869000	Weak transcription	Left Ventricle	heart
7	chr8:125866400-125869200	Weak transcription	Esophagus	oesophagus
8	chr8:125866400-125869400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:125866600-125869000	Weak transcription	K562	blood
10	chr8:125866800-125869000	Weak transcription	Fetal Heart	heart
11	chr8:125867200-125869200	Weak transcription	Right Ventricle	heart
12	chr8:125867800-125869200	Weak transcription	Lung	lung
13	chr8:125868000-125869200	Enhancers	HMEC	breast
14	chr8:125868200-125869200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:125868600-125869200	Weak transcription	NHDF-Ad	bronchial
16	chr8:125868600-125869200	Enhancers	NHEK	skin
17	chr8:125868600-125869800	Enhancers	Osteobl	bone
18	chr8:125868600-125870600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:125868600-125870600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:125869000-125869400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:125869000-125869400	Enhancers	Fetal Heart	heart
22	chr8:125869000-125869600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:125869000-125869600	Enhancers	HUVEC	blood vessel
24	chr8:125869000-125869800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:125869000-125869800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:125869000-125869800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:125869000-125869800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:125869000-125869800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:125869000-125869800	Enhancers	Left Ventricle	heart
30	chr8:125869000-125869800	Enhancers	Ovary	ovary
31	chr8:125869000-125869800	Enhancers	K562	blood
32	chr8:125869200-125869400	Enhancers	Right Atrium	heart
33	chr8:125869200-125869400	Enhancers	NHDF-Ad	bronchial
34	chr8:125869200-125869600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:125869200-125869600	Enhancers	Fetal Thymus	thymus
36	chr8:125869200-125869600	Enhancers	Right Ventricle	heart
37	chr8:125869200-125869600	Flanking Active TSS	HMEC	breast
38	chr8:125869200-125869600	Flanking Active TSS	NHEK	skin
39	chr8:125869200-125869800	Enhancers	Placenta	Placenta
40	chr8:125869200-125869800	Enhancers	Lung	lung
41	chr8:125869200-125869800	Enhancers	NHLF	lung
42	chr8:125869200-125870000	Enhancers	Spleen	Spleen
43	chr8:125869200-125870200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr8:125869200-125871000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:125869200-125871000	Enhancers	Esophagus	oesophagus
46	chr8:125869400-125869600	Flanking Active TSS	Fetal Heart	heart
47	chr8:125869400-125869800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:125869400-125870000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:125869400-125870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:125869400-125872600	Weak transcription	NHDF-Ad	bronchial

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