Variant report

Variant	nsv834397
Chromosome Location	chr2:145439528-145608628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:755)
CpG islands
(count:61)
Chromatin interactive
region (count:87)
LncRNA
region (count:54)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:755 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145439753-145440248	K562	blood:	n/a	n/a
2	ARID3A	chr2:145591984-145592279	K562	blood:	n/a	n/a
3	ARID3A	chr2:145463295-145463413	K562	blood:	n/a	n/a
4	ARID3A	chr2:145461329-145461911	K562	blood:	n/a	n/a
5	ARID3A	chr2:145606025-145606460	K562	blood:	n/a	n/a
6	ATF1	chr2:145463323-145463468	K562	blood:	n/a	n/a
7	ATF1	chr2:145605969-145606442	K562	blood:	n/a	n/a
8	ATF1	chr2:145473493-145473908	K562	blood:	n/a	n/a
9	ATF1	chr2:145439843-145440166	K562	blood:	n/a	n/a
10	ATF1	chr2:145461418-145461840	K562	blood:	n/a	n/a
11	ATF3	chr2:145505138-145505394	K562	blood:	n/a	n/a
12	ATF3	chr2:145463206-145463617	K562	blood:	n/a	n/a
13	ATF3	chr2:145473588-145473911	K562	blood:	n/a	n/a
14	ATF3	chr2:145538617-145538992	K562	blood:	n/a	n/a
15	ATF3	chr2:145461416-145461816	K562	blood:	n/a	n/a
16	BACH1	chr2:145461451-145461735	K562	blood:	n/a	n/a
17	BHLHE40	chr2:145461432-145461834	K562	blood:	n/a	n/a
18	BHLHE40	chr2:145440755-145440960	K562	blood:	n/a	n/a
19	BRCA1	chr2:145573671-145573811	H1-hESC	embryonic stem cell:	n/a	n/a
20	CBX3	chr2:145481989-145482358	K562	blood:	n/a	n/a
21	CBX3	chr2:145475916-145476335	K562	blood:	n/a	n/a
22	CBX3	chr2:145461205-145461888	K562	blood:	n/a	n/a
23	CBX3	chr2:145578036-145578308	K562	blood:	n/a	n/a
24	CBX3	chr2:145461387-145461912	K562	blood:	n/a	n/a
25	CBX3	chr2:145505084-145505577	K562	blood:	n/a	n/a
26	CBX3	chr2:145473537-145473920	K562	blood:	n/a	n/a
27	CBX3	chr2:145439743-145440239	K562	blood:	n/a	n/a
28	CBX3	chr2:145475818-145476370	K562	blood:	n/a	n/a
29	CBX3	chr2:145505166-145505479	K562	blood:	n/a	n/a
30	CBX3	chr2:145506762-145507087	K562	blood:	n/a	n/a
31	CBX3	chr2:145509066-145509467	K562	blood:	n/a	n/a
32	CBX3	chr2:145606013-145606417	K562	blood:	n/a	n/a
33	CCNT2	chr2:145439983-145440312	K562	blood:	n/a	n/a
34	CCNT2	chr2:145461550-145461760	K562	blood:	n/a	n/a
35	CCNT2	chr2:145462008-145462031	K562	blood:	n/a	n/a
36	CCNT2	chr2:145592024-145592198	K562	blood:	n/a	chr2:145592079-145592088
37	CEBPB	chr2:145592051-145592939	A549	lung:	n/a	n/a
38	CEBPB	chr2:145535810-145536110	A549	lung:	n/a	chr2:145535963-145535974 chr2:145535963-145535976
39	CEBPB	chr2:145535909-145536089	K562	blood:	n/a	chr2:145535963-145535974 chr2:145535963-145535976
40	CEBPB	chr2:145468703-145468906	K562	blood:	n/a	chr2:145468831-145468844 chr2:145468831-145468842 chr2:145468833-145468842 chr2:145468833-145468844 chr2:145468831-145468844
41	CEBPB	chr2:145468667-145469009	IMR90	lung:	n/a	chr2:145468831-145468844 chr2:145468831-145468842 chr2:145468833-145468842 chr2:145468833-145468844 chr2:145468831-145468844
42	CEBPB	chr2:145469636-145469794	K562	blood:	n/a	n/a
43	CEBPB	chr2:145592068-145592930	IMR90	lung:	n/a	n/a
44	CEBPB	chr2:145585181-145585436	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:145540757-145541084	HepG2	liver:	n/a	chr2:145540909-145540922 chr2:145540909-145540922 chr2:145540910-145540921 chr2:145540909-145540920 chr2:145540909-145540922 chr2:145540909-145540920
46	CEBPB	chr2:145589759-145590002	HepG2	liver:	n/a	chr2:145589895-145589906
47	CEBPB	chr2:145535863-145536111	IMR90	lung:	n/a	chr2:145535963-145535974 chr2:145535963-145535976
48	CEBPB	chr2:145540767-145541057	IMR90	lung:	n/a	chr2:145540909-145540922 chr2:145540909-145540922 chr2:145540910-145540921 chr2:145540909-145540920 chr2:145540909-145540922 chr2:145540909-145540920
49	CEBPB	chr2:145461444-145461786	ECC-1	luminal epithelium:	n/a	chr2:145461601-145461612 chr2:145461601-145461614 chr2:145461602-145461613 chr2:145461710-145461721 chr2:145461603-145461612
50	CEBPB	chr2:145463271-145463488	K562	blood:	n/a	chr2:145463411-145463422

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145592759-145592809	GM19239	blood:	n/a
2	chr2:145592759-145592809	K562	blood:	n/a
3	chr2:145592759-145592809	RPTEC	kidney:	n/a
4	chr2:145592759-145592809	IMR90	lung:	fetal
5	chr2:145592759-145592809	ECC-1	luminal epithelium:	n/a
6	chr2:145592759-145592809	HAEpiC	amniotic membrane:	n/a
7	chr2:145592759-145592809	NHBE	bronchial:	n/a
8	chr2:145592759-145592809	GM12892	blood:	n/a
9	chr2:145592759-145592809	SK-N-SH_RA	brain:	n/a
10	chr2:145592759-145592809	GM06990	blood:	n/a
11	chr2:145592759-145592809	HRCEpiC	kidney:	n/a
12	chr2:145592759-145592809	SK-N-SH	brain:	n/a
13	chr2:145592759-145592809	HCM	heart:	n/a
14	chr2:145592759-145592809	MCF-7	breast:	n/a
15	chr2:145592759-145592809	NH-A	brain:	n/a
16	chr2:145592759-145592809	NB4	blood:	n/a
17	chr2:145592759-145592809	Caco-2	colon:	n/a
18	chr2:145592759-145592809	HNPCEpiC	eye:	n/a
19	chr2:145592759-145592809	HUVEC	blood vessel:	n/a
20	chr2:145592759-145592809	HCF	heart:	n/a
21	chr2:145592759-145592809	SK-N-MC	brain:	n/a
22	chr2:145592759-145592809	AG04449	skin:	fetal
23	chr2:145592759-145592809	AG10803	skin:	n/a
24	chr2:145592759-145592809	PrEC	prostate:	n/a
25	chr2:145592759-145592809	Hela-S3	cervix:	n/a
26	chr2:145592759-145592809	NHDF-neo	bronchial:	n/a
27	chr2:145592759-145592809	SKMC	muscle:	n/a
28	chr2:145592759-145592809	HCPEpiC	choroid plexus:	n/a
29	chr2:145592759-145592809	HL-60	blood:	n/a
30	chr2:145592759-145592809	SAEC	small airway:	n/a
31	chr2:145592759-145592809	GM12891	blood:	n/a
32	chr2:145592759-145592809	LNCaP	prostate:	n/a
33	chr2:145592759-145592809	PANC-1	pancreas:	n/a
34	chr2:145592759-145592809	H1-hESC	embryonic stem cell:	embryo
35	chr2:145592759-145592809	HRPEpiC	eye:	n/a
36	chr2:145592759-145592809	Jurkat	blood:	n/a
37	chr2:145592759-145592809	HEK293	kidney:	embryo
38	chr2:145592759-145592809	NT2-D1	testis:	n/a
39	chr2:145592759-145592809	CMK	blood:	n/a
40	chr2:145592759-145592809	U87	brain:	n/a
41	chr2:145592759-145592809	ProgFib	skin:	n/a
42	chr2:145592759-145592809	BJ	skin:	n/a
43	chr2:145592759-145592809	AG09319	gingival:	n/a
44	chr2:145592759-145592809	MCF10A-Er-Src	breast:	n/a
45	chr2:145592759-145592809	ovcar-3	ovarian:	n/a
46	chr2:145592759-145592809	HIPEpiC	eye:	n/a
47	chr2:145592759-145592809	AG04450	lung:	fetal
48	chr2:145592759-145592809	HMEC	breast:	n/a
49	chr2:145592759-145592809	AoSMC	blood vessel:	n/a
50	chr2:145592759-145592809	Hepatocyte	liver:	n/a

(count:87 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:145564584..145566663-chr2:145568594..145570151,2	K562	blood:
2	chr2:145595446..145597580-chr2:145604165..145606551,3	K562	blood:
3	chr2:145445504..145447495-chr2:145448613..145450868,2	K562	blood:
4	chr2:145484863..145486795-chr2:145491067..145492720,2	K562	blood:
5	chr2:145566900..145569050-chr2:145586753..145589174,2	K562	blood:
6	chr2:145464586..145466817-chr2:145471212..145475328,4	K562	blood:
7	chr2:145596074..145597580-chr2:145604478..145606551,2	K562	blood:
8	chr2:145454779..145457783-chr2:145458648..145461775,4	K562	blood:
9	chr2:145420530..145423010-chr2:145438909..145441021,2	K562	blood:
10	chr2:145590313..145591173-chr3:83995793..83996595,2	MCF-7	breast:
11	chr2:145272423..145275360-chr2:145553011..145555773,2	K562	blood:
12	chr2:145453934..145456976-chr2:145457587..145463055,5	K562	blood:
13	chr2:145484857..145486363-chr2:145489944..145492720,2	K562	blood:
14	chr11:12899545..12902282-chr2:145475611..145478066,2	MCF-7	breast:
15	chr2:145438508..145440477-chr2:145442503..145444386,2	K562	blood:
16	chr2:145577953..145579496-chr2:145588268..145589798,2	K562	blood:
17	chr2:145279653..145282025-chr2:145468587..145470858,2	K562	blood:
18	chr2:145566312..145568822-chr2:145572746..145575204,2	K562	blood:
19	chr2:145445504..145447495-chr2:145448613..145450868,2	K562	blood:
20	chr2:145595446..145597580-chr2:145604165..145606551,3	K562	blood:
21	chr2:145455727..145457310-chr2:145465404..145467712,2	K562	blood:
22	chr2:145500867..145502403-chr2:145505547..145508226,2	K562	blood:
23	chr2:145449232..145451837-chr2:145452287..145453911,2	K562	blood:
24	chr2:145275432..145278057-chr2:145459706..145461255,2	K562	blood:
25	chr2:145428109..145430225-chr2:145438902..145440651,2	K562	blood:
26	chr2:145423785..145426572-chr2:145438302..145439914,2	K562	blood:
27	chr2:145552624..145554634-chr2:145555270..145557334,2	K562	blood:
28	chr2:145444859..145446664-chr2:145465647..145467615,2	K562	blood:
29	chr2:145500867..145502403-chr2:145505547..145508226,2	K562	blood:
30	chr2:145583345..145587433-chr2:145589219..145592326,4	K562	blood:
31	chr2:145274672..145276800-chr2:145439979..145441648,2	K562	blood:
32	chr2:145551347..145554493-chr2:145556641..145558720,3	K562	blood:
33	chr2:145596074..145597580-chr2:145604478..145606551,2	K562	blood:
34	chr2:145566312..145568822-chr2:145572746..145575204,2	K562	blood:
35	chr2:145563733..145564541-chr4:699220..700041,2	HCT-116	colon:
36	chr2:145537415..145539405-chr2:145540092..145542767,2	K562	blood:
37	chr2:145464586..145466817-chr2:145471212..145475328,4	K562	blood:
38	chr2:145577953..145579496-chr2:145588268..145589798,2	K562	blood:
39	chr2:145589399..145590940-chr2:145600068..145601853,2	K562	blood:
40	chr2:145440137..145441747-chr2:145541238..145543975,2	K562	blood:
41	chr2:145436622..145438184-chr2:145439926..145441504,2	K562	blood:
42	chr2:145474202..145476398-chr2:145598840..145601823,2	K562	blood:
43	chr2:145470712..145472300-chr2:145489991..145491799,2	K562	blood:
44	chr2:145455727..145457589-chr2:145466212..145468545,2	K562	blood:
45	chr2:145383800..145385697-chr2:145457704..145459844,2	K562	blood:
46	chr2:145276106..145279120-chr2:145591555..145594624,3	K562	blood:
47	chr2:145593121..145596607-chr2:145597907..145600679,5	K562	blood:
48	chr2:145484863..145486795-chr2:145491067..145492720,2	K562	blood:
49	chr2:145561719..145564182-chr2:145566587..145568679,2	K562	blood:
50	chr2:145453934..145456976-chr2:145457587..145463055,5	K562	blood:

(count:54 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-6	chr2:145448606-145448677	ENSG00000226674.4
2	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
3	lnc-ARHGAP15-6	chr2:145525665-145525847	NONHSAT074786
4	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
5	lnc-ARHGAP15-6	chr2:145568692-145568842	ENSG00000226674
6	lnc-ZEB2-13	chr2:145512343-145513565	NONHSAT074811
7	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
8	lnc-ZEB2-2	chr2:145445980-145446642	XLOC_002345
9	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
10	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
11	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
12	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
13	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
14	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
15	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
16	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
17	lnc-ARHGAP15-6	chr2:145520964-145521095	ENSG00000226674.4
18	lnc-ARHGAP15-16	chr2:145456944-145465439	NONHSAT074810
19	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
20	lnc-ARHGAP15-6	chr2:145525665-145525847	NONHSAT074787
21	lnc-ARHGAP15-17	chr2:145544857-145544978	ucscGeneNc_uc002twc_2
22	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674
23	lnc-ARHGAP15-6	chr2:145523928-145524097	ENSG00000226674.4
24	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
25	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674
26	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674
27	lnc-ARHGAP15-6	chr2:145520964-145521095	ENSG00000226674.4
28	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
29	lnc-ARHGAP15-6	chr2:145448606-145448677	ENSG00000226674
30	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
31	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
32	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
33	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674
34	lnc-ARHGAP15-6	chr2:145523937-145524097	NONHSAT074786
35	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
36	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
37	lnc-ARHGAP15-6	chr2:145448606-145448677	ENSG00000226674.4
38	lnc-ARHGAP15-6	chr2:145529321-145529345	NONHSAT074786
39	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
40	lnc-ARHGAP15-6	chr2:145520964-145521095	ENSG00000226674.4
41	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
42	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674.4
43	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
44	lnc-ARHGAP15-17	chr2:145546561-145550759	ucscGeneNc_uc002twc_2
45	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
46	lnc-ZEB2-2	chr2:145447617-145447752	XLOC_002345
47	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674
48	lnc-ARHGAP15-6	chr2:145525665-145525950	ENSG00000226674
49	lnc-ARHGAP15-6	chr2:145525665-145525847	ENSG00000226674.4
50	lnc-ARHGAP15-6	chr2:145523937-145524097	ENSG00000226674

No data

Variant related genes	Relation type
TEX41	TF binding region
ENSG00000234940	TF binding region
ENSG00000235352	TF binding region
TEX41	CpG island
ENSG00000234940	CpG island
ENSG00000235352	CpG island
ENSG00000226674	chromatin interactions
ENSG00000169554	chromatin interactions
ENSG00000234940	chromatin interactions
ENSG00000187079	chromatin interactions
ENSG00000238057	chromatin interactions
ENSG00000185619	chromatin interactions
RNF145	miRNA target sites
NDEL1	miRNA target sites

Extended variants
information (count: 4513 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:4513 , 50 per page) page: 1 2 3 4 5 6 7 ... 91

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140608197	chr2:145439545-145439546	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs571395812	chr2:145439550-145439551	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532312084	chr2:145439577-145439578	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143730057	chr2:145439605-145439606	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182658137	chr2:145439638-145439639	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536274592	chr2:145439674-145439675	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554559094	chr2:145439701-145439702	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552145175	chr2:145439731-145439732	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs566581066	chr2:145439772-145439773	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187681071	chr2:145439883-145439884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558683462	chr2:145439974-145439975	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs116097405	chr2:145439978-145439979	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544779571	chr2:145439979-145439980	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs564884460	chr2:145440035-145440036	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs556596632	chr2:145440049-145440050	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs575027322	chr2:145440064-145440065	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541828472	chr2:145440134-145440135	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs560152774	chr2:145440317-145440318	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs192817110	chr2:145440327-145440328	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532441980	chr2:145440328-145440329	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs545920261	chr2:145440329-145440330	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184099327	chr2:145440371-145440372	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs151190367	chr2:145440401-145440402	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs188657577	chr2:145440444-145440445	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs77829947	chr2:145440526-145440527	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs193229631	chr2:145440582-145440583	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs535763327	chr2:145440625-145440626	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs566520309	chr2:145440628-145440629	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs140323536	chr2:145440652-145440653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs565885932	chr2:145440671-145440672	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs150367915	chr2:145440679-145440680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs570497006	chr2:145440769-145440770	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374046899	chr2:145440794-145440795	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs371539877	chr2:145440800-145440801	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs538080857	chr2:145440834-145440835	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs13015001	chr2:145440840-145440841	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs574680651	chr2:145441006-145441007	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs535791095	chr2:145441066-145441067	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs368540280	chr2:145441068-145441069	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs183740875	chr2:145441145-145441146	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs138211188	chr2:145441185-145441186	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs545756289	chr2:145441223-145441224	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs564445343	chr2:145441255-145441256	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs576435851	chr2:145441265-145441266	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs544085883	chr2:145441283-145441284	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs548336320	chr2:145441291-145441292	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs186618362	chr2:145441303-145441304	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs569755860	chr2:145441311-145441312	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs529912796	chr2:145441368-145441369	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs548532451	chr2:145441467-145441468	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145423000-145440600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:145434200-145439600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:145436600-145440800	Weak transcription	Fetal Kidney	kidney
4	chr2:145438000-145440600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:145438400-145441000	Enhancers	NHEK	skin
6	chr2:145438600-145439600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:145438600-145440600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:145438600-145441000	Enhancers	HMEC	breast
9	chr2:145438800-145452800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:145439000-145440200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:145439400-145439600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:145439400-145439600	Enhancers	K562	blood
13	chr2:145439400-145439800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:145439400-145442000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:145439600-145440000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:145439600-145440400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:145439600-145440400	Flanking Active TSS	K562	blood
18	chr2:145439600-145440800	Enhancers	Primary B cells from cord blood	blood
19	chr2:145439800-145440200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr2:145439800-145440200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr2:145440000-145440800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:145440000-145441200	Enhancers	Fetal Lung	lung
23	chr2:145440000-145441600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:145440000-145441600	Enhancers	Ovary	ovary
25	chr2:145440000-145442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:145440000-145442400	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:145440200-145440600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:145440200-145440800	Enhancers	Brain Angular Gyrus	brain
29	chr2:145440200-145442200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr2:145440400-145441800	Enhancers	K562	blood
31	chr2:145440600-145440800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr2:145440600-145441000	Enhancers	Fetal Stomach	stomach
33	chr2:145440600-145441000	Enhancers	Right Atrium	heart
34	chr2:145440600-145441800	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:145440600-145441800	Enhancers	Adipose Nuclei	Adipose
36	chr2:145440600-145441800	Enhancers	Colon Smooth Muscle	Colon
37	chr2:145440600-145442000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:145440600-145442200	Enhancers	Primary hematopoietic stem cells	blood
39	chr2:145440800-145441600	Enhancers	Aorta	Aorta
40	chr2:145440800-145441600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:145440800-145442000	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr2:145440800-145442000	Enhancers	Fetal Kidney	kidney
43	chr2:145440800-145442600	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr2:145441600-145441800	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:145441800-145443200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:145441800-145444200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:145442000-145442200	Enhancers	Primary B cells from cord blood	blood
48	chr2:145442000-145443600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:145442000-145443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:145442200-145442600	Enhancers	Monocytes-CD14+_RO01746	blood

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