Variant report

Variant	nsv432802
Chromosome Location	chr5:117612408-117921244
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	BACH1	chr5:117647727-117647789	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr5:117661095-117661110	K562	blood:	n/a	n/a
4	BATF	chr5:117620020-117620314	GM12878	blood:	n/a	n/a
5	BATF	chr5:117753305-117753649	GM12878	blood:	n/a	n/a
6	BATF	chr5:117753385-117753613	GM12878	blood:	n/a	n/a
7	BATF	chr5:117619990-117620322	GM12878	blood:	n/a	n/a
8	BCL3	chr5:117799303-117799522	GM12878	blood:	n/a	n/a
9	BHLHE40	chr5:117784388-117784436	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:117842348-117842543	GM12878	blood:	n/a	n/a
11	BRCA1	chr5:117784131-117784246	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr5:117827793-117827904	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr5:117670911-117671221	IMR90	lung:	n/a	chr5:117671060-117671071
14	CEBPB	chr5:117627601-117627904	IMR90	lung:	n/a	chr5:117627762-117627773
15	CEBPB	chr5:117884446-117884760	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
16	CEBPB	chr5:117783921-117784179	Hela-S3	cervix:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
17	CEBPB	chr5:117783863-117784175	A549	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
18	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
19	CEBPB	chr5:117797940-117798316	IMR90	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
20	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
21	CEBPB	chr5:117797913-117798203	MCF-7	breast:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
22	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
23	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
24	CEBPB	chr5:117657498-117657812	IMR90	lung:	n/a	n/a
25	CEBPB	chr5:117893153-117893464	HepG2	liver:	n/a	chr5:117893294-117893305
26	CEBPB	chr5:117783854-117784181	IMR90	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
27	CEBPB	chr5:117767168-117767318	HepG2	liver:	n/a	n/a
28	CEBPB	chr5:117884404-117884771	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
29	CEBPB	chr5:117884508-117884707	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
30	CEBPB	chr5:117654150-117654245	A549	lung:	n/a	chr5:117654199-117654212
31	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
32	CEBPB	chr5:117797944-117798299	HepG2	liver:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
33	CEBPB	chr5:117797945-117798318	K562	blood:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
34	CEBPB	chr5:117884363-117884907	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
35	CEBPB	chr5:117884403-117884809	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
36	CEBPB	chr5:117884538-117884752	A549	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
37	CEBPB	chr5:117670914-117671189	A549	lung:	n/a	chr5:117671060-117671071
38	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
39	CEBPB	chr5:117884396-117884796	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
40	CEBPB	chr5:117884451-117884780	IMR90	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
41	CEBPB	chr5:117797944-117798311	A549	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
42	CEBPB	chr5:117889409-117889983	IMR90	lung:	n/a	chr5:117889970-117889981 chr5:117889559-117889576 chr5:117889970-117889983 chr5:117889970-117889981
43	CEBPB	chr5:117884436-117884805	Hela-S3	cervix:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
44	CEBPB	chr5:117689722-117689920	H1-hESC	embryonic stem cell:	n/a	n/a
45	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
46	CEBPB	chr5:117627685-117627933	HepG2	liver:	n/a	chr5:117627762-117627773
47	CEBPB	chr5:117898339-117898607	H1-hESC	embryonic stem cell:	n/a	chr5:117898390-117898403 chr5:117898387-117898404 chr5:117898482-117898495 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493 chr5:117898484-117898493
48	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
49	CEBPB	chr5:117670935-117671234	HepG2	liver:	n/a	chr5:117671060-117671071
50	CEBPB	chr5:117797959-117798295	Hela-S3	cervix:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117786381-117786431	IMR90	lung:	fetal
2	chr5:117786381-117786431	IMR90	lung:	fetal
3	chr5:117617841-117617891	Hela-S3	cervix:	n/a
4	chr5:117618514-117618564	AoSMC	blood vessel:	n/a
5	chr5:117618514-117618564	H1-hESC	embryonic stem cell:	embryo
6	chr5:117617841-117617891	U87	brain:	n/a
7	chr5:117645500-117645550	AoSMC	blood vessel:	n/a
8	chr5:117822219-117822269	MCF10A-Er-Src	breast:	n/a
9	chr5:117618514-117618564	SK-N-MC	brain:	n/a
10	chr5:117630841-117630891	HUVEC	blood vessel:	n/a
11	chr5:117645500-117645550	SAEC	small airway:	n/a
12	chr5:117822219-117822269	HCM	heart:	n/a
13	chr5:117617841-117617891	HCT-116	colon:	n/a
14	chr5:117822219-117822269	NB4	blood:	n/a
15	chr5:117630841-117630891	Caco-2	colon:	n/a
16	chr5:117822219-117822269	PANC-1	pancreas:	n/a
17	chr5:117630841-117630891	SK-N-MC	brain:	n/a
18	chr5:117822219-117822269	HCPEpiC	choroid plexus:	n/a
19	chr5:117822219-117822269	SAEC	small airway:	n/a
20	chr5:117617841-117617891	AG04449	skin:	fetal
21	chr5:117630841-117630891	NT2-D1	testis:	n/a
22	chr5:117630841-117630891	CMK	blood:	n/a
23	chr5:117786381-117786431	GM19239	blood:	n/a
24	chr5:117822219-117822269	Caco-2	colon:	n/a
25	chr5:117617841-117617891	BE2_C	brain:	n/a
26	chr5:117630841-117630891	HMEC	breast:	n/a
27	chr5:117786381-117786431	ProgFib	skin:	n/a
28	chr5:117618514-117618564	T-47D	breast:	n/a
29	chr5:117617841-117617891	ECC-1	luminal epithelium:	n/a
30	chr5:117630841-117630891	HCM	heart:	n/a
31	chr5:117618514-117618564	SK-N-SH_RA	brain:	n/a
32	chr5:117630841-117630891	AG09319	gingival:	n/a
33	chr5:117645500-117645550	Hepatocyte	liver:	n/a
34	chr5:117618514-117618564	HNPCEpiC	eye:	n/a
35	chr5:117822219-117822269	BJ	skin:	n/a
36	chr5:117822219-117822269	HepG2	liver:	n/a
37	chr5:117617841-117617891	H1-hESC	embryonic stem cell:	embryo
38	chr5:117630841-117630891	PANC-1	pancreas:	n/a
39	chr5:117645500-117645550	SK-N-SH_RA	brain:	n/a
40	chr5:117786381-117786431	HAEpiC	amniotic membrane:	n/a
41	chr5:117630841-117630891	NH-A	brain:	n/a
42	chr5:117786381-117786431	SKMC	muscle:	n/a
43	chr5:117617841-117617891	NHDF-neo	bronchial:	n/a
44	chr5:117617841-117617891	HL-60	blood:	n/a
45	chr5:117617841-117617891	K562	blood:	n/a
46	chr5:117630841-117630891	HCF	heart:	n/a
47	chr5:117618514-117618564	HUVEC	blood vessel:	n/a
48	chr5:117617841-117617891	AG10803	skin:	n/a
49	chr5:117645500-117645550	HNPCEpiC	eye:	n/a
50	chr5:117786381-117786431	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
2	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
3	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
4	chr5:117701000..117704455-chr5:117706374..117709409,3	MCF-7	breast:
5	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
6	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
7	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
8	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
9	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
10	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
11	chr14:81686696..81687602-chr5:117664674..117665194,3	HCT-116	colon:
12	chr5:117607162..117609228-chr5:117612634..117615234,2	MCF-7	breast:
13	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
14	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
15	chr5:117679557..117681634-chr5:117711905..117714203,2	K562	blood:
16	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
17	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
18	chr5:117662110..117664653-chr5:117666113..117667800,2	MCF-7	breast:
19	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
20	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
21	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
22	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-2	chr5:117916227-117916343	XLOC_004526
2	lnc-DTWD2-3	chr5:117804776-117804843	NR_104610
3	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
4	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
5	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
6	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
7	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
8	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
9	lnc-DTWD2-3	chr5:117856867-117858541	NONHSAT103396
10	lnc-DTWD2-3	chr5:117881553-117881844	XLOC_004965
11	lnc-DMXL1-9	chr5:117647307-117648354	ucscGeneNc_uc003krz_2
12	lnc-DTWD2-10	chr5:117837956-117838021	l_3002_chr5:117837955-117925717_heart
13	lnc-DTWD2-10	chr5:117874482-117874658	l_3002_chr5:117837955-117925717_heart
14	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
15	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
16	lnc-DTWD2-10	chr5:117886321-117886440	l_3002_chr5:117837955-117925717_heart
17	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
18	lnc-DMXL1-2	chr5:117915349-117915489	XLOC_004526
19	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
20	lnc-DTWD2-3	chr5:117888048-117888244	XLOC_004965
21	lnc-DTWD2-3	chr5:117803997-117804129	NR_104610
22	lnc-DTWD2-3	chr5:117897616-117897751	XLOC_004965
23	lnc-DTWD2-3	chr5:117881443-117881844	XLOC_004965
24	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
25	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
26	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
27	lnc-DTWD2-3	chr5:117897616-117897826	NONHSAT103403
28	lnc-DTWD2-10	chr5:117909342-117909743	l_3002_chr5:117837955-117925717_heart
29	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
30	lnc-DMXL1-2	chr5:117912735-117912889	XLOC_004526
31	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
32	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
33	lnc-DTWD2-3	chr5:117881461-117881844	NONHSAT103403
34	lnc-DTWD2-10	chr5:117887243-117887411	l_3002_chr5:117837955-117925717_heart
35	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
36	lnc-DTWD2-3	chr5:117859424-117859509	NONHSAT103401
37	lnc-DTWD2-3	chr5:117686661-117687202	NONHSAT103396
38	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
39	lnc-DMXL1-2	chr5:117916964-117917019	XLOC_004526
40	lnc-DTWD2-3	chr5:117890742-117890834	XLOC_004965
41	lnc-DTWD2-3	chr5:117890742-117890834	NONHSAT103403
42	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
43	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
44	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
45	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
46	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
47	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
48	lnc-DTWD2-3	chr5:117897616-117897812	NONHSAT103396
49	lnc-DTWD2-3	chr5:117686667-117687202	NR_104610
50	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965

Variant related genes	Relation type
ENSG00000250427	TF binding region
ENSG00000249551	TF binding region
ENSG00000250891	TF binding region
ENSG00000250427	CpG island
ENSG00000249551	CpG island
ENSG00000250891	CpG island
ENSG00000165417	chromatin interactions
HOXA5	miRNA target sites
TAX1BP1	miRNA target sites
CELSR3	miRNA target sites
MARK2	miRNA target sites
MAT2A	miRNA target sites
MARS2	miRNA target sites
MATR3	miRNA target sites
SFRS2	miRNA target sites
CEBPD	miRNA target sites
CEBPB	miRNA target sites
KRAS	miRNA target sites
NR2C2AP	miRNA target sites
CEBPZ	miRNA target sites

Extended variants
information (count: 9123 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:9123 , 50 per page) page: 1 2 3 4 5 6 7 ... 183

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1871366	chr5:117612408-117612409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535674577	chr5:117612436-117612437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs77500281	chr5:117612440-117612441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs398109345	chr5:117612441-117612442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184279628	chr5:117612449-117612450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199975051	chr5:117612467-117612468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537541311	chr5:117612510-117612511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73243413	chr5:117612524-117612525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575771338	chr5:117612535-117612536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1382735	chr5:117612572-117612573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs558417538	chr5:117612578-117612579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1382736	chr5:117612589-117612590	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs75882903	chr5:117612608-117612609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74939844	chr5:117612631-117612632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111947106	chr5:117612632-117612633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573484955	chr5:117612657-117612658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1382737	chr5:117612705-117612706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs5000371	chr5:117612754-117612755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs190102505	chr5:117612769-117612770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77465616	chr5:117612812-117612813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181339201	chr5:117612822-117612823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575795864	chr5:117612839-117612840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184944271	chr5:117612865-117612866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566640203	chr5:117612887-117612888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548280489	chr5:117612902-117612903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376903572	chr5:117612940-117612941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555826918	chr5:117612956-117612957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189300058	chr5:117612976-117612977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138479734	chr5:117612979-117612980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569739792	chr5:117613013-117613014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1382738	chr5:117613032-117613033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs578242455	chr5:117613064-117613065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373142367	chr5:117613069-117613070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143001436	chr5:117613076-117613077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180901073	chr5:117613093-117613094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573660232	chr5:117613111-117613112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542794248	chr5:117613146-117613147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563872415	chr5:117613162-117613163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144343847	chr5:117613201-117613202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148339209	chr5:117613203-117613204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565055713	chr5:117613224-117613225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571867628	chr5:117613244-117613245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547274809	chr5:117613250-117613251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60923242	chr5:117613266-117613267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529239941	chr5:117613293-117613294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549218698	chr5:117613299-117613300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569286382	chr5:117613302-117613303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7445570	chr5:117613339-117613340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139481926	chr5:117613346-117613347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551914181	chr5:117613393-117613394	Weak transcription	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	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117609600-117615200	Weak transcription	Pancreas	Pancrea
2	chr5:117615200-117615600	Enhancers	Pancreas	Pancrea
3	chr5:117616400-117619200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:117619200-117619600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:117627400-117627600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:117627400-117627600	Enhancers	Pancreas	Pancrea
7	chr5:117629000-117629800	Enhancers	Fetal Heart	heart
8	chr5:117629800-117630600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:117629800-117631000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:117630000-117631000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:117630200-117632000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:117630400-117630600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:117630400-117630800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:117630400-117631800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:117630400-117632200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:117630600-117631000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr5:117630600-117631000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:117630600-117631600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:117631600-117632200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:117631800-117632400	Enhancers	Fetal Lung	lung
21	chr5:117641400-117641800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:117641400-117641800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:117644400-117645200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:117644800-117645600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:117644800-117645800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:117644800-117645800	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:117644800-117646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:117645000-117647400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:117645200-117645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr5:117645200-117645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:117645600-117645800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:117645800-117647400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:117646000-117647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:117646400-117646800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:117646800-117647200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:117647200-117647400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:117647200-117647400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:117647400-117647600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:117647400-117649200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr5:117649200-117650000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:117650400-117650800	Enhancers	Fetal Lung	lung
42	chr5:117650400-117650800	Enhancers	Ovary	ovary
43	chr5:117660000-117666000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:117661200-117662800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:117661200-117663000	Enhancers	NH-A	brain
46	chr5:117661400-117662400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:117661600-117662000	Enhancers	Colon Smooth Muscle	Colon
48	chr5:117661600-117662400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:117661600-117662600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:117661800-117662200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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