Variant report

Variant	nsv427731
Chromosome Location	chr5:117781143-118023504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:117884442-117884668	HepG2	liver:	n/a	n/a
2	BATF	chr5:117966281-117966527	GM12878	blood:	n/a	chr5:117966409-117966419 chr5:117966408-117966419
3	BCL3	chr5:117799303-117799522	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:117842348-117842543	GM12878	blood:	n/a	n/a
5	BHLHE40	chr5:117784388-117784436	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:117934828-117934953	GM12878	blood:	n/a	n/a
7	BRCA1	chr5:117784131-117784246	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr5:117968451-117968509	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr5:117827793-117827904	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr5:117932289-117932583	A549	lung:	n/a	n/a
11	CEBPB	chr5:117980712-117980912	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr5:117797944-117798299	HepG2	liver:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
13	CEBPB	chr5:117797944-117798311	A549	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
14	CEBPB	chr5:117797945-117798318	K562	blood:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
15	CEBPB	chr5:117783921-117784179	Hela-S3	cervix:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
16	CEBPB	chr5:117980695-117980854	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr5:118016169-118016299	IMR90	lung:	n/a	n/a
18	CEBPB	chr5:117783848-117784184	HepG2	liver:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
19	CEBPB	chr5:117797934-117798312	H1-hESC	embryonic stem cell:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
20	CEBPB	chr5:117884396-117884796	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
21	CEBPB	chr5:117889409-117889983	IMR90	lung:	n/a	chr5:117889970-117889981 chr5:117889559-117889576 chr5:117889970-117889983 chr5:117889970-117889981
22	CEBPB	chr5:117884451-117884780	IMR90	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
23	CEBPB	chr5:117980631-117980944	IMR90	lung:	n/a	n/a
24	CEBPB	chr5:117797940-117798316	IMR90	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
25	CEBPB	chr5:117898314-117898635	A549	lung:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
26	CEBPB	chr5:117898330-117898641	IMR90	lung:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
27	CEBPB	chr5:117898360-117898614	MCF-7	breast:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
28	CEBPB	chr5:117884333-117884820	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
29	CEBPB	chr5:117932234-117932584	HepG2	liver:	n/a	n/a
30	CEBPB	chr5:117884404-117884771	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
31	CEBPB	chr5:117898380-117898661	K562	blood:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
32	CEBPB	chr5:117884538-117884752	A549	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
33	CEBPB	chr5:117884403-117884809	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
34	CEBPB	chr5:117884446-117884760	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
35	CEBPB	chr5:117980697-117980954	MCF-7	breast:	n/a	n/a
36	CEBPB	chr5:117797999-117798207	ECC-1	luminal epithelium:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
37	CEBPB	chr5:117898306-117898626	HepG2	liver:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
38	CEBPB	chr5:118016144-118016302	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr5:117898345-117898611	Hela-S3	cervix:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
40	CEBPB	chr5:117980648-117980924	HepG2	liver:	n/a	n/a
41	CEBPB	chr5:117783854-117784181	IMR90	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
42	CEBPB	chr5:117966977-117967267	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr5:118001014-118001180	K562	blood:	n/a	n/a
44	CEBPB	chr5:117884363-117884907	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
45	CEBPB	chr5:117797997-117798221	ECC-1	luminal epithelium:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
46	CEBPB	chr5:117797959-117798295	Hela-S3	cervix:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
47	CEBPB	chr5:117783863-117784175	A549	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
48	CEBPB	chr5:117884508-117884707	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
49	CEBPB	chr5:117797913-117798203	MCF-7	breast:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
50	CEBPB	chr5:117884436-117884805	Hela-S3	cervix:	n/a	chr5:117884623-117884634 chr5:117884574-117884585

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117964718-117964768	H1-hESC	embryonic stem cell:	embryo
2	chr5:117964718-117964768	H1-hESC	embryonic stem cell:	embryo
3	chr5:117822219-117822269	HCPEpiC	choroid plexus:	n/a
4	chr5:117786381-117786431	AG09309	skin:	n/a
5	chr5:117786381-117786431	HL-60	blood:	n/a
6	chr5:117822219-117822269	HCM	heart:	n/a
7	chr5:117786381-117786431	ECC-1	luminal epithelium:	n/a
8	chr5:117822219-117822269	LNCaP	prostate:	n/a
9	chr5:117822219-117822269	SK-N-SH_RA	brain:	n/a
10	chr5:117786381-117786431	AG04450	lung:	fetal
11	chr5:117964718-117964768	IMR90	lung:	fetal
12	chr5:117964718-117964768	GM12878	blood:	n/a
13	chr5:117964718-117964768	AG09309	skin:	n/a
14	chr5:117964718-117964768	AG10803	skin:	n/a
15	chr5:117964718-117964768	AG04449	skin:	fetal
16	chr5:117786381-117786431	PrEC	prostate:	n/a
17	chr5:117822219-117822269	AG09309	skin:	n/a
18	chr5:117786381-117786431	MCF10A-Er-Src	breast:	n/a
19	chr5:117964718-117964768	MCF10A-Er-Src	breast:	n/a
20	chr5:117786381-117786431	Hepatocyte	liver:	n/a
21	chr5:117964718-117964768	HRCEpiC	kidney:	n/a
22	chr5:117786381-117786431	SK-N-SH_RA	brain:	n/a
23	chr5:117786381-117786431	RPTEC	kidney:	n/a
24	chr5:117964718-117964768	Caco-2	colon:	n/a
25	chr5:117964718-117964768	U87	brain:	n/a
26	chr5:117964718-117964768	BJ	skin:	n/a
27	chr5:117822219-117822269	Hepatocyte	liver:	n/a
28	chr5:117964718-117964768	HCPEpiC	choroid plexus:	n/a
29	chr5:117822219-117822269	HIPEpiC	eye:	n/a
30	chr5:117964718-117964768	HCM	heart:	n/a
31	chr5:117786381-117786431	IMR90	lung:	fetal
32	chr5:117822219-117822269	SK-N-SH	brain:	n/a
33	chr5:117964718-117964768	HIPEpiC	eye:	n/a
34	chr5:117964718-117964768	HepG2	liver:	n/a
35	chr5:117786381-117786431	GM12878	blood:	n/a
36	chr5:117786381-117786431	HPAEpiC	pulmonary alveolar:	n/a
37	chr5:117964718-117964768	NT2-D1	testis:	n/a
38	chr5:117964718-117964768	BE2_C	brain:	n/a
39	chr5:117964718-117964768	PFSK-1	brain:	n/a
40	chr5:117964718-117964768	HNPCEpiC	eye:	n/a
41	chr5:117822219-117822269	NH-A	brain:	n/a
42	chr5:117964718-117964768	NH-A	brain:	n/a
43	chr5:117822219-117822269	HepG2	liver:	n/a
44	chr5:117964718-117964768	HPAEpiC	pulmonary alveolar:	n/a
45	chr5:117822219-117822269	AG10803	skin:	n/a
46	chr5:117822219-117822269	K562	blood:	n/a
47	chr5:117964718-117964768	HMEC	breast:	n/a
48	chr5:117822219-117822269	GM12891	blood:	n/a
49	chr5:117822219-117822269	AG09319	gingival:	n/a
50	chr5:117822219-117822269	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:117930634..117932935-chr5:117933519..117935108,2	MCF-7	breast:
2	chr3:161088409..161090897-chr5:117945115..117947573,2	MCF-7	breast:
3	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:
4	chr5:117997413..117999188-chr5:118002983..118004523,2	MCF-7	breast:
5	chr5:117997413..117999188-chr5:118002983..118004523,2	MCF-7	breast:
6	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:
7	chr5:117947053..117948753-chr5:118127871..118130563,2	MCF-7	breast:
8	chr5:117953386..117954146-chr5:118127518..118128022,2	MCF-7	breast:
9	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
10	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
11	chr5:117946766..117947670-chr5:118127610..118128249,2	MCF-7	breast:
12	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
13	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
14	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
15	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
16	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
17	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
18	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
19	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
20	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
21	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-2	chr5:117916964-117917019	XLOC_004526
2	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
3	lnc-DTWD2-3	chr5:117808544-117808601	XLOC_004965
4	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
5	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
6	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610
7	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
8	lnc-DTWD2-3	chr5:117881443-117881844	XLOC_004965
9	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
10	lnc-DTWD2-3	chr5:117897616-117897812	XLOC_004965
11	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
12	lnc-DTWD2-3	chr5:117881461-117881844	NONHSAT103403
13	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
14	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
15	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
16	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
17	lnc-DTWD2-3	chr5:117863970-117864208	NONHSAT103401
18	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
19	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
20	lnc-DMXL1-2	chr5:117911270-117911381	XLOC_004526
21	lnc-DMXL1-1	chr5:117945434-117945572	XLOC_004527
22	lnc-DTWD2-10	chr5:117909342-117909743	l_3002_chr5:117837955-117925717_heart
23	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
24	lnc-DTWD2-3	chr5:117890742-117890834	NONHSAT103403
25	lnc-DTWD2-10	chr5:117925515-117925717	l_3002_chr5:117837955-117925717_heart
26	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
27	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
28	lnc-DMXL1-1	chr5:117949988-117950046	XLOC_004527
29	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
30	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
31	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
32	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
33	lnc-DTWD2-3	chr5:117897616-117897826	NONHSAT103403
34	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
35	lnc-DTWD2-3	chr5:117897616-117897751	XLOC_004965
36	lnc-DMXL1-2	chr5:117912735-117912889	XLOC_004526
37	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
38	lnc-DTWD2-10	chr5:117874482-117874658	l_3002_chr5:117837955-117925717_heart
39	lnc-DMXL1-1	chr5:117963545-117963787	XLOC_004527
40	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
41	lnc-DTWD2-3	chr5:117881553-117881844	XLOC_004965
42	lnc-DTWD2-3	chr5:117897616-117897812	NONHSAT103396
43	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
44	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
45	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
46	lnc-DMXL1-1	chr5:117947055-117947122	XLOC_004527
47	lnc-DMXL1-2	chr5:117915349-117915489	XLOC_004526
48	lnc-DMXL1-1	chr5:117931883-117931916	XLOC_004527
49	lnc-DTWD2-3	chr5:117856867-117858541	NR_104610
50	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965

Variant related genes	Relation type
ENSG00000249551	TF binding region
ENSG00000249128	TF binding region
ENSG00000250891	TF binding region
ENSG00000249551	CpG island
ENSG00000249128	CpG island
ENSG00000250891	CpG island
ENSG00000249128	chromatin interactions
ENSG00000196542	chromatin interactions
DHX57	miRNA target sites
TAX1BP1	miRNA target sites
MAT2A	miRNA target sites
CEBPD	miRNA target sites
HOXA5	miRNA target sites
MARS2	miRNA target sites
DICER1	miRNA target sites
DIABLO	miRNA target sites
KRAS	miRNA target sites
SFRS2	miRNA target sites
CEBPB	miRNA target sites
NR2C2AP	miRNA target sites
CELSR3	miRNA target sites
CEBPZ	miRNA target sites
MATR3	miRNA target sites
MARK2	miRNA target sites

Extended variants
information (count: 8432 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:8432 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12514288	chr5:117781152-117781153	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527830337	chr5:117781156-117781157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534809087	chr5:117781178-117781179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554603077	chr5:117781196-117781197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568330722	chr5:117781202-117781203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151294770	chr5:117781219-117781220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542996016	chr5:117781347-117781348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535718029	chr5:117781348-117781349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140237018	chr5:117781386-117781387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577450850	chr5:117781398-117781399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545822528	chr5:117781410-117781411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552700382	chr5:117781416-117781417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370651934	chr5:117781422-117781423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572759818	chr5:117781427-117781428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7729729	chr5:117781472-117781473	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs561741648	chr5:117781573-117781574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541154170	chr5:117781580-117781581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544404660	chr5:117781581-117781582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564413932	chr5:117781627-117781628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201741655	chr5:117781632-117781633	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs367963557	chr5:117781672-117781673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs398050689	chr5:117781673-117781674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs201560131	chr5:117781674-117781675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7712098	chr5:117781676-117781677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs386404804	chr5:117781689-117781690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs33925790	chr5:117781690-117781691	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533072591	chr5:117781786-117781787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546824329	chr5:117781799-117781800	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs565950089	chr5:117781805-117781806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184534864	chr5:117781838-117781839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548295315	chr5:117781843-117781844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs550127983	chr5:117781856-117781857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs568191072	chr5:117781863-117781864	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs188868438	chr5:117781865-117781866	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs114509904	chr5:117781903-117781904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570979338	chr5:117781934-117781935	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs6595134	chr5:117781935-117781936	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs193103879	chr5:117781938-117781939	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs375536331	chr5:117781998-117781999	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555536527	chr5:117782051-117782052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184391418	chr5:117782082-117782083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544466882	chr5:117782107-117782108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564128520	chr5:117782124-117782125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532672259	chr5:117782138-117782139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77069506	chr5:117782142-117782143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540173224	chr5:117782175-117782176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544478233	chr5:117782221-117782222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189150228	chr5:117782225-117782226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548160284	chr5:117782228-117782229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568253837	chr5:117782234-117782235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:117779400-117785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:117780600-117781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:117780600-117781600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:117780600-117781800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:117780800-117782200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:117780800-117782200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:117780800-117782400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:117780800-117782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:117781000-117781600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:117781000-117782000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:117781400-117785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:117781600-117781800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:117781600-117782000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:117781600-117782000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:117781800-117782000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:117781800-117782200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:117781800-117785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:117782000-117782200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:117782000-117782600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:117782000-117783600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:117782000-117785000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:117782200-117785200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:117782200-117785400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:117782200-117785600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:117782400-117785000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:117782400-117785000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:117782600-117785200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:117783000-117783600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:117783600-117807000	Weak transcription	Left Ventricle	heart
31	chr5:117785000-117786600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:117785000-117786800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:117785000-117787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr5:117785200-117787000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:117785200-117787000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:117785200-117787000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:117785400-117786600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:117785400-117786600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:117785400-117787000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:117785400-117787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:117785400-117787600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:117785600-117786400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr5:117785800-117786800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:117785800-117787000	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:117786200-117787000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:117786200-117787000	Enhancers	Brain Germinal Matrix	brain
47	chr5:117786600-117787000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr5:117787000-117789200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:117787000-117789400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:117787000-117789400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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