Variant report

Variant	nsv599529
Chromosome Location	chr5:117740545-118020706
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	chr5:117753385-117753613	GM12878	blood:	n/a	n/a
3	BATF	chr5:117753305-117753649	GM12878	blood:	n/a	n/a
4	BATF	chr5:117966281-117966527	GM12878	blood:	n/a	chr5:117966409-117966419 chr5:117966408-117966419
5	BCL3	chr5:117799303-117799522	GM12878	blood:	n/a	n/a
6	BHLHE40	chr5:117842348-117842543	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:117934828-117934953	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:117784388-117784436	GM12878	blood:	n/a	n/a
9	BRCA1	chr5:117968451-117968509	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr5:117784131-117784246	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr5:117827793-117827904	Hela-S3	cervix:	n/a	n/a
12	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
13	CEBPB	chr5:117884396-117884796	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
14	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
15	CEBPB	chr5:117980697-117980954	MCF-7	breast:	n/a	n/a
16	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
17	CEBPB	chr5:117797944-117798311	A549	lung:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
18	CEBPB	chr5:117797913-117798203	MCF-7	breast:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
19	CEBPB	chr5:117884508-117884707	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
20	CEBPB	chr5:117980695-117980854	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr5:117797945-117798318	K562	blood:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
22	CEBPB	chr5:117980631-117980944	IMR90	lung:	n/a	n/a
23	CEBPB	chr5:117932234-117932584	HepG2	liver:	n/a	n/a
24	CEBPB	chr5:117966977-117967267	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr5:117767168-117767318	HepG2	liver:	n/a	n/a
26	CEBPB	chr5:117889409-117889983	IMR90	lung:	n/a	chr5:117889970-117889981 chr5:117889559-117889576 chr5:117889970-117889983 chr5:117889970-117889981
27	CEBPB	chr5:117884446-117884760	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
28	CEBPB	chr5:117884363-117884907	MCF-7	breast:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
29	CEBPB	chr5:117797959-117798295	Hela-S3	cervix:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
30	CEBPB	chr5:117884403-117884809	HepG2	liver:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
31	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
32	CEBPB	chr5:117893153-117893464	HepG2	liver:	n/a	chr5:117893294-117893305
33	CEBPB	chr5:117980712-117980912	Hela-S3	cervix:	n/a	n/a
34	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
35	CEBPB	chr5:117884404-117884771	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
36	CEBPB	chr5:117932289-117932583	A549	lung:	n/a	n/a
37	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
38	CEBPB	chr5:117884451-117884780	IMR90	lung:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
39	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
40	CEBPB	chr5:117783863-117784175	A549	lung:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
41	CEBPB	chr5:118016144-118016302	Hela-S3	cervix:	n/a	n/a
42	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
43	CEBPB	chr5:117783921-117784179	Hela-S3	cervix:	n/a	chr5:117784028-117784041 chr5:117784028-117784039
44	CEBPB	chr5:117884333-117884820	HCT-116	colon:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
45	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
46	CEBPB	chr5:118016169-118016299	IMR90	lung:	n/a	n/a
47	CEBPB	chr5:117884436-117884805	Hela-S3	cervix:	n/a	chr5:117884623-117884634 chr5:117884574-117884585
48	CEBPB	chr5:117797944-117798299	HepG2	liver:	n/a	chr5:117798129-117798140 chr5:117798128-117798141 chr5:117798130-117798139 chr5:117798130-117798139 chr5:117798130-117798139
49	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
50	CEBPB	chr5:118001014-118001180	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:117786381-117786431	HAEpiC	amniotic membrane:	n/a
2	chr5:117964718-117964768	HIPEpiC	eye:	n/a
3	chr5:117786381-117786431	NHDF-neo	bronchial:	n/a
4	chr5:117822219-117822269	GM12892	blood:	n/a
5	chr5:117786381-117786431	HCM	heart:	n/a
6	chr5:117964718-117964768	HepG2	liver:	n/a
7	chr5:117964718-117964768	SK-N-SH_RA	brain:	n/a
8	chr5:117964718-117964768	SK-N-MC	brain:	n/a
9	chr5:117964718-117964768	AG04449	skin:	fetal
10	chr5:117822219-117822269	ECC-1	luminal epithelium:	n/a
11	chr5:117964718-117964768	Hepatocyte	liver:	n/a
12	chr5:117786381-117786431	IMR90	lung:	fetal
13	chr5:117822219-117822269	HRE	kidney:	n/a
14	chr5:117964718-117964768	PFSK-1	brain:	n/a
15	chr5:117786381-117786431	SK-N-MC	brain:	n/a
16	chr5:117964718-117964768	CMK	blood:	n/a
17	chr5:117786381-117786431	T-47D	breast:	n/a
18	chr5:117822219-117822269	BJ	skin:	n/a
19	chr5:117964718-117964768	SK-N-SH	brain:	n/a
20	chr5:117964718-117964768	NHBE	bronchial:	n/a
21	chr5:117964718-117964768	RPTEC	kidney:	n/a
22	chr5:117786381-117786431	SKMC	muscle:	n/a
23	chr5:117822219-117822269	GM12878	blood:	n/a
24	chr5:117822219-117822269	HMEC	breast:	n/a
25	chr5:117786381-117786431	SAEC	small airway:	n/a
26	chr5:117822219-117822269	NT2-D1	testis:	n/a
27	chr5:117822219-117822269	MCF10A-Er-Src	breast:	n/a
28	chr5:117964718-117964768	NHDF-neo	bronchial:	n/a
29	chr5:117822219-117822269	HEEpiC	esophagus:	n/a
30	chr5:117964718-117964768	GM06990	blood:	n/a
31	chr5:117786381-117786431	HCPEpiC	choroid plexus:	n/a
32	chr5:117964718-117964768	MCF-7	breast:	n/a
33	chr5:117786381-117786431	Hepatocyte	liver:	n/a
34	chr5:117822219-117822269	AG10803	skin:	n/a
35	chr5:117964718-117964768	A549	lung:	n/a
36	chr5:117964718-117964768	HNPCEpiC	eye:	n/a
37	chr5:117786381-117786431	HCF	heart:	n/a
38	chr5:117786381-117786431	HRE	kidney:	n/a
39	chr5:117786381-117786431	CMK	blood:	n/a
40	chr5:117786381-117786431	NT2-D1	testis:	n/a
41	chr5:117822219-117822269	IMR90	lung:	fetal
42	chr5:117786381-117786431	HRPEpiC	eye:	n/a
43	chr5:117964718-117964768	HRE	kidney:	n/a
44	chr5:117964718-117964768	HCF	heart:	n/a
45	chr5:117964718-117964768	HMEC	breast:	n/a
46	chr5:117964718-117964768	AG09309	skin:	n/a
47	chr5:117964718-117964768	H1-hESC	embryonic stem cell:	embryo
48	chr5:117822219-117822269	NH-A	brain:	n/a
49	chr5:117786381-117786431	AoSMC	blood vessel:	n/a
50	chr5:117822219-117822269	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
2	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
3	chr5:117930634..117932935-chr5:117933519..117935108,2	MCF-7	breast:
4	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
5	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
6	chr5:117947053..117948753-chr5:118127871..118130563,2	MCF-7	breast:
7	chr5:117911515..117913042-chr5:117914826..117917481,2	MCF-7	breast:
8	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
9	chr5:117953386..117954146-chr5:118127518..118128022,2	MCF-7	breast:
10	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:
11	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
12	chr3:161088409..161090897-chr5:117945115..117947573,2	MCF-7	breast:
13	chr5:117997413..117999188-chr5:118002983..118004523,2	MCF-7	breast:
14	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:
15	chr5:117887915..117890272-chr5:117891445..117894908,3	MCF-7	breast:
16	chr5:117923008..117924830-chr5:117927973..117929496,2	MCF-7	breast:
17	chr5:117892457..117896152-chr5:117898946..117902524,3	MCF-7	breast:
18	chr5:117853508..117855086-chr5:117856732..117858837,2	K562	blood:
19	chr5:117989069..117990852-chr5:117992183..117994675,2	K562	blood:
20	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
21	chr5:117997413..117999188-chr5:118002983..118004523,2	MCF-7	breast:
22	chr5:117747668..117749268-chr5:117752112..117754605,2	K562	blood:
23	chr5:117946766..117947670-chr5:118127610..118128249,2	MCF-7	breast:
24	chr5:117893334..117895634-chr5:117899247..117902608,3	K562	blood:
25	chr5:117739269..117741179-chr5:117744231..117746382,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DTWD2-3	chr5:117810057-117810122	XLOC_004965
2	lnc-DTWD2-3	chr5:117804776-117804843	NONHSAT103396
3	lnc-DMXL1-1	chr5:117945434-117945572	XLOC_004527
4	lnc-DTWD2-10	chr5:117925515-117925717	l_3002_chr5:117837955-117925717_heart
5	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
6	lnc-DMXL1-2	chr5:117916227-117916343	XLOC_004526
7	lnc-DMXL1-2	chr5:117911270-117911381	XLOC_004526
8	lnc-DTWD2-3	chr5:117857424-117858532	NONHSAT103400
9	lnc-DTWD2-3	chr5:117897616-117897818	XLOC_004965
10	lnc-DMXL1-2	chr5:117916964-117917019	XLOC_004526
11	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
12	lnc-DTWD2-3	chr5:117846583-117846759	NR_104610
13	lnc-DTWD2-3	chr5:117807758-117807884	NONHSAT103396
14	lnc-DTWD2-3	chr5:117859344-117859509	NR_104610
15	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103400
16	lnc-DTWD2-3	chr5:117858422-117858541	XLOC_004965
17	lnc-DTWD2-3	chr5:117897616-117897812	NR_104610
18	lnc-DTWD2-10	chr5:117887243-117887411	l_3002_chr5:117837955-117925717_heart
19	lnc-DTWD2-3	chr5:117803851-117804129	XLOC_004965
20	lnc-DTWD2-3	chr5:117846583-117846759	NONHSAT103396
21	lnc-DMXL1-1	chr5:117931883-117931916	XLOC_004527
22	lnc-DTWD2-10	chr5:117874482-117874658	l_3002_chr5:117837955-117925717_heart
23	lnc-DTWD2-3	chr5:117890742-117890834	NONHSAT103403
24	lnc-DTWD2-3	chr5:117881461-117881844	NONHSAT103403
25	lnc-DTWD2-3	chr5:117807758-117807884	XLOC_004965
26	lnc-DTWD2-3	chr5:117856867-117857041	NONHSAT103400
27	lnc-DTWD2-10	chr5:117909342-117909743	l_3002_chr5:117837955-117925717_heart
28	lnc-DTWD2-3	chr5:117881443-117881844	XLOC_004965
29	lnc-DTWD2-3	chr5:117810067-117810120	NONHSAT103396
30	lnc-DTWD2-3	chr5:117807758-117807884	NR_104610
31	lnc-DTWD2-3	chr5:117881553-117881844	XLOC_004965
32	lnc-DTWD2-3	chr5:117810067-117810122	XLOC_004965
33	lnc-DTWD2-3	chr5:117809227-117810122	XLOC_004965
34	lnc-DTWD2-3	chr5:117846583-117846759	XLOC_004965
35	lnc-DTWD2-3	chr5:117859344-117859512	XLOC_004965
36	lnc-DTWD2-3	chr5:117808544-117808601	NONHSAT103396
37	lnc-DTWD2-3	chr5:117810084-117810122	NONHSAT103400
38	lnc-DMXL1-2	chr5:117912735-117912889	XLOC_004526
39	lnc-DTWD2-3	chr5:117804776-117804843	XLOC_004965
40	lnc-DTWD2-3	chr5:117856867-117858541	XLOC_004965
41	lnc-DTWD2-3	chr5:117810067-117810122	NR_104610
42	lnc-DMXL1-1	chr5:117947055-117947122	XLOC_004527
43	lnc-DTWD2-3	chr5:117897616-117897812	XLOC_004965
44	lnc-DTWD2-3	chr5:117897616-117897826	NONHSAT103403
45	lnc-DTWD2-3	chr5:117897616-117897812	NONHSAT103396
46	lnc-DTWD2-3	chr5:117888048-117888244	XLOC_004965
47	lnc-DTWD2-3	chr5:117859344-117859509	XLOC_004965
48	lnc-DTWD2-3	chr5:117808544-117808601	NR_104610
49	lnc-DTWD2-3	chr5:117859344-117859509	NONHSAT103396
50	lnc-DTWD2-3	chr5:117897616-117897818	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
ENSG00000196542	chromatin interactions
ENSG00000249128	chromatin interactions
KRAS	miRNA target sites
MARK2	miRNA target sites
TAX1BP1	miRNA target sites
DICER1	miRNA target sites
HOXA5	miRNA target sites
CEBPD	miRNA target sites
MARS2	miRNA target sites
DHX57	miRNA target sites
SFRS2	miRNA target sites
CEBPZ	miRNA target sites
NR2C2AP	miRNA target sites
MAT2A	miRNA target sites
CEBPB	miRNA target sites
MATR3	miRNA target sites
CELSR3	miRNA target sites
DIABLO	miRNA target sites

Extended variants
information (count: 8877 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:8877 , 50 per page) page: 1 2 3 4 5 6 7 ... 178

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7446054	chr5:117740545-117740546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541409219	chr5:117740571-117740572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190699444	chr5:117740573-117740574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148534115	chr5:117740579-117740580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141081082	chr5:117740613-117740614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556781561	chr5:117740626-117740627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543525289	chr5:117740631-117740632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116070500	chr5:117740649-117740650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144802018	chr5:117740656-117740657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59637266	chr5:117740670-117740671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115620163	chr5:117740673-117740674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528133587	chr5:117740675-117740676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548177600	chr5:117740676-117740677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568727096	chr5:117740679-117740680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556517259	chr5:117740682-117740683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185742654	chr5:117740708-117740709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567916957	chr5:117740716-117740717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532923276	chr5:117740730-117740731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551266685	chr5:117740733-117740734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148240323	chr5:117740736-117740737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550367649	chr5:117740751-117740752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191978745	chr5:117740766-117740767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59783812	chr5:117740778-117740779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116448356	chr5:117740796-117740797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566441593	chr5:117740803-117740804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535343739	chr5:117740818-117740819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554971875	chr5:117740822-117740823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183561752	chr5:117740839-117740840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543930934	chr5:117740840-117740841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566757693	chr5:117740848-117740849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12523315	chr5:117740870-117740871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557469407	chr5:117740891-117740892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188208278	chr5:117740904-117740905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375739612	chr5:117740905-117740906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141008302	chr5:117740937-117740938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112848696	chr5:117740984-117740985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192788441	chr5:117741017-117741018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545074151	chr5:117741042-117741043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77957989	chr5:117741052-117741053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76610150	chr5:117741064-117741065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561738550	chr5:117741068-117741069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74540085	chr5:117741069-117741070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374790114	chr5:117741075-117741076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76585145	chr5:117741076-117741077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79268584	chr5:117741079-117741080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74523943	chr5:117741084-117741085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75169439	chr5:117741085-117741086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77890436	chr5:117741086-117741087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150216050	chr5:117741087-117741088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561341152	chr5:117741092-117741093	Enhancers 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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117735800-117743800	Weak transcription	Right Atrium	heart
2	chr5:117740800-117742000	Enhancers	Fetal Muscle Trunk	muscle
3	chr5:117741000-117742000	Enhancers	Fetal Muscle Leg	muscle
4	chr5:117741200-117741600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:117741200-117741800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:117741200-117741800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:117741400-117741600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:117741400-117741600	Enhancers	Right Ventricle	heart
9	chr5:117741400-117741800	Enhancers	Fetal Stomach	stomach
10	chr5:117741400-117742000	Enhancers	Left Ventricle	heart
11	chr5:117741600-117744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:117743400-117744000	Enhancers	Right Ventricle	heart
13	chr5:117743800-117744200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:117743800-117744600	Enhancers	Right Atrium	heart
15	chr5:117744000-117744600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:117775400-117779000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:117775600-117776000	Enhancers	NHDF-Ad	bronchial
18	chr5:117775800-117777200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:117777200-117777800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:117777800-117779400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:117778000-117778800	Enhancers	Brain Anterior Caudate	brain
22	chr5:117778600-117779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr5:117778800-117779000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:117778800-117779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:117779000-117779200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:117779000-117780800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:117779000-117786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:117779200-117779400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:117779400-117779800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr5:117779400-117785400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:117779800-117780600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr5:117780600-117781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:117780600-117781600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:117780600-117781800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:117780800-117781000	Enhancers	Placenta Amnion	Placenta Amnion
36	chr5:117780800-117782200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:117780800-117782200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:117780800-117782400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:117780800-117782400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr5:117781000-117781600	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:117781000-117782000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:117781400-117785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:117781600-117781800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:117781600-117782000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:117781600-117782000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr5:117781800-117782000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:117781800-117782200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:117781800-117785200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr5:117782000-117782200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr5:117782000-117782600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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