Variant report

Variant	nsv881418
Chromosome Location	chr5:44800665-44869100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1139)
CpG islands
(count:854)
Chromatin interactive
region (count:53)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1139 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:44808615-44809027	K562	blood:	n/a	n/a
2	ARID3A	chr5:44808606-44809530	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:44809867-44810155	K562	blood:	n/a	n/a
4	ATF1	chr5:44806365-44807047	K562	blood:	n/a	n/a
5	ATF1	chr5:44808659-44809228	K562	blood:	n/a	n/a
6	ATF1	chr5:44834388-44834439	K562	blood:	n/a	n/a
7	ATF1	chr5:44807350-44807613	K562	blood:	n/a	n/a
8	ATF2	chr5:44808557-44809157	GM12878	blood:	n/a	n/a
9	ATF2	chr5:44808643-44809367	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr5:44809365-44809713	K562	blood:	n/a	n/a
11	ATF3	chr5:44808694-44809086	K562	blood:	n/a	n/a
12	BACH1	chr5:44842053-44842065	K562	blood:	n/a	n/a
13	BACH1	chr5:44812721-44812997	K562	blood:	n/a	n/a
14	BACH1	chr5:44807560-44807730	K562	blood:	n/a	n/a
15	BCLAF1	chr5:44808520-44809248	GM12878	blood:	n/a	n/a
16	BHLHE40	chr5:44808566-44810152	K562	blood:	n/a	n/a
17	BHLHE40	chr5:44808613-44810001	GM12878	blood:	n/a	n/a
18	BHLHE40	chr5:44808837-44809612	HepG2	liver:	n/a	n/a
19	BHLHE40	chr5:44801388-44801511	K562	blood:	n/a	n/a
20	BRCA1	chr5:44808256-44809228	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr5:44808997-44809228	HepG2	liver:	n/a	n/a
22	BRCA1	chr5:44809441-44810447	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr5:44808620-44809310	K562	blood:	n/a	n/a
24	CBX3	chr5:44839415-44839755	K562	blood:	n/a	n/a
25	CBX3	chr5:44839422-44839683	K562	blood:	n/a	n/a
26	CBX3	chr5:44808641-44809341	HCT-116	colon:	n/a	n/a
27	CBX3	chr5:44808635-44809235	K562	blood:	n/a	n/a
28	CBX3	chr5:44808529-44809395	HCT-116	colon:	n/a	n/a
29	CCNT2	chr5:44819239-44819439	K562	blood:	n/a	n/a
30	CCNT2	chr5:44808711-44809742	K562	blood:	n/a	n/a
31	CCNT2	chr5:44814056-44814236	K562	blood:	n/a	n/a
32	CEBPB	chr5:44808628-44809421	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
33	CEBPB	chr5:44806972-44807745	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr5:44802127-44802471	HepG2	liver:	n/a	n/a
35	CEBPB	chr5:44808628-44809266	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
36	CEBPB	chr5:44802174-44802431	A549	lung:	n/a	n/a
37	CEBPB	chr5:44808768-44809156	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
38	CEBPB	chr5:44808729-44809218	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
39	CEBPB	chr5:44808691-44809335	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
40	CEBPB	chr5:44808703-44809264	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
41	CEBPB	chr5:44810956-44811416	K562	blood:	n/a	chr5:44810972-44810984
42	CEBPB	chr5:44808761-44809187	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
43	CEBPB	chr5:44808594-44809293	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
44	CEBPB	chr5:44808690-44809216	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
45	CEBPB	chr5:44808676-44809322	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
46	CEBPB	chr5:44808714-44809296	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
47	CEBPB	chr5:44811150-44811434	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr5:44802144-44802484	IMR90	lung:	n/a	n/a
49	CEBPB	chr5:44808558-44810095	Hela-S3	cervix:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
50	CEBPB	chr5:44809633-44809978	K562	blood:	n/a	n/a

(count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44808985-44809035	ovcar-3	ovarian:	n/a
2	chr5:44809098-44809148	GM06990	blood:	n/a
3	chr5:44809616-44809666	RPTEC	kidney:	n/a
4	chr5:44807541-44807591	HEEpiC	esophagus:	n/a
5	chr5:44808985-44809035	AG04450	lung:	fetal
6	chr5:44809789-44809839	Jurkat	blood:	n/a
7	chr5:44808985-44809035	HRE	kidney:	n/a
8	chr5:44809789-44809839	IMR90	lung:	fetal
9	chr5:44808985-44809035	GM12891	blood:	n/a
10	chr5:44807541-44807591	Hepatocyte	liver:	n/a
11	chr5:44808879-44808929	SK-N-MC	brain:	n/a
12	chr5:44809054-44809104	HCPEpiC	choroid plexus:	n/a
13	chr5:44807541-44807591	T-47D	breast:	n/a
14	chr5:44808985-44809035	HEK293	kidney:	embryo
15	chr5:44809054-44809104	GM12891	blood:	n/a
16	chr5:44809829-44809879	NH-A	brain:	n/a
17	chr5:44809789-44809839	U87	brain:	n/a
18	chr5:44809789-44809839	BJ	skin:	n/a
19	chr5:44808992-44809042	HCPEpiC	choroid plexus:	n/a
20	chr5:44809978-44810028	HEK293	kidney:	embryo
21	chr5:44808838-44808888	MCF10A-Er-Src	breast:	n/a
22	chr5:44809789-44809839	GM12892	blood:	n/a
23	chr5:44808944-44808994	HepG2	liver:	n/a
24	chr5:44808985-44809035	HCF	heart:	n/a
25	chr5:44806923-44806973	HCF	heart:	n/a
26	chr5:44808992-44809042	U87	brain:	n/a
27	chr5:44808838-44808888	NT2-D1	testis:	n/a
28	chr5:44809789-44809839	Hepatocyte	liver:	n/a
29	chr5:44809829-44809879	HUVEC	blood vessel:	n/a
30	chr5:44808992-44809042	HCT-116	colon:	n/a
31	chr5:44809616-44809666	Hela-S3	cervix:	n/a
32	chr5:44808838-44808888	RPTEC	kidney:	n/a
33	chr5:44806923-44806973	BE2_C	brain:	n/a
34	chr5:44808992-44809042	SK-N-SH_RA	brain:	n/a
35	chr5:44806923-44806973	HAEpiC	amniotic membrane:	n/a
36	chr5:44808985-44809035	CMK	blood:	n/a
37	chr5:44808944-44808994	Caco-2	colon:	n/a
38	chr5:44809054-44809104	GM12892	blood:	n/a
39	chr5:44809978-44810028	AG10803	skin:	n/a
40	chr5:44809054-44809104	U87	brain:	n/a
41	chr5:44809829-44809879	T-47D	breast:	n/a
42	chr5:44809789-44809839	AG04449	skin:	fetal
43	chr5:44808838-44808888	Hela-S3	cervix:	n/a
44	chr5:44809616-44809666	ovcar-3	ovarian:	n/a
45	chr5:44809054-44809104	NB4	blood:	n/a
46	chr5:44809789-44809839	GM12891	blood:	n/a
47	chr5:44806923-44806973	NHBE	bronchial:	n/a
48	chr5:44808944-44808994	IMR90	lung:	fetal
49	chr5:44809978-44810028	NH-A	brain:	n/a
50	chr5:44807541-44807591	HCF	heart:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:49392278..49393242-chr5:44808988..44809561,2	Hela-S3	cervix:
2	chr14:23938468..23939352-chr5:44808810..44809313,2	Hela-S3	cervix:
3	chr5:44808957..44809562-chr9:124132087..124132930,2	Hela-S3	cervix:
4	chr5:44817948..44820754-chr5:44857369..44859717,2	K562	blood:
5	chr5:44853997..44856861-chr5:44860134..44862584,2	MCF-7	breast:
6	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
7	chr5:44803599..44805422-chr5:44807607..44810623,4	MCF-7	breast:
8	chr5:44808556..44810835-chr5:44829625..44832716,3	K562	blood:
9	chr2:171785493..171786293-chr5:44809583..44810173,2	Hela-S3	cervix:
10	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
11	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
12	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
13	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
14	chr5:44808723..44809249-chr7:100026295..100026950,2	Hela-S3	cervix:
15	chr10:71929901..71930548-chr5:44808772..44809281,2	Hela-S3	cervix:
16	chr11:17099102..17099608-chr5:44808888..44809410,2	Hela-S3	cervix:
17	chr17:7591709..7592384-chr5:44809087..44809902,2	Hela-S3	cervix:
18	chr5:44821717..44824511-chr5:44825492..44828126,3	K562	blood:
19	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
20	chr19:14529681..14530530-chr5:44809016..44809604,2	Hela-S3	cervix:
21	chr4:40058800..40059461-chr5:44808324..44809273,2	Hela-S3	cervix:
22	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
23	chr20:61557361..61558053-chr5:44808686..44809479,2	Hela-S3	cervix:
24	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
25	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
26	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:
27	chr5:44800337..44802609-chr5:44815368..44818346,2	K562	blood:
28	chr4:83821443..83822373-chr5:44808683..44809463,2	Hela-S3	cervix:
29	chr5:44808786..44809598-chr5:172197780..172198613,2	Hela-S3	cervix:
30	chr5:44853997..44856861-chr5:44860134..44862584,2	MCF-7	breast:
31	chr5:44812314..44818024-chr5:44831286..44835501,6	K562	blood:
32	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
33	chr3:196044330..196045109-chr5:44808668..44809542,2	Hela-S3	cervix:
34	chr17:73775676..73776311-chr5:44809199..44809853,2	Hela-S3	cervix:
35	chr3:132440899..132441670-chr5:44809571..44810212,2	Hela-S3	cervix:
36	chr1:53793010..53793667-chr5:44808690..44809499,2	Hela-S3	cervix:
37	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
38	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
39	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:
40	chr16:2317728..2318295-chr5:44808823..44809613,2	Hela-S3	cervix:
41	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
42	chr5:44808765..44814014-chr5:44819023..44823010,7	MCF-7	breast:
43	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
44	chr5:44808999..44809744-chr7:72971733..72972413,2	Hela-S3	cervix:
45	chr10:102821336..102821906-chr5:44808729..44809463,2	Hela-S3	cervix:
46	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
47	chr5:44859297..44861746-chr5:44866328..44867936,2	K562	blood:
48	chr5:44862614..44863569-chr5:44952149..44952785,2	MCF-7	breast:
49	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
50	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-8	chr5:44832987-44833074	NONHSAT101354
2	lnc-MRPS30-8	chr5:44836107-44836603	NONHSAT101354
3	lnc-FGF10-3	chr5:44808744-44808895	NR_109864
4	lnc-FGF10-3	chr5:44808744-44808843	ENSG00000251141.1
5	lnc-FGF10-3	chr5:44844501-44844699	l_2917_chr5:44777367-44844699_brain
6	lnc-MRPS30-7	chr5:44816545-44820530	NONHSAT101352
7	lnc-FGF10-3	chr5:44808744-44808881	NONHSAT147331
8	lnc-FGF10-3	chr5:44812180-44813015	l_2917_chr5:44777367-44844699_brain
9	lnc-FGF10-3	chr5:44808744-44808895	NR_109865
10	lnc-FGF10-3	chr5:44808744-44808895	NR_109862
11	lnc-FGF10-3	chr5:44808744-44808844	ENSG00000251141.1
12	lnc-MRPS30-9	chr5:44857275-44857513	expReg_chr5_1704_+
13	lnc-FGF10-3	chr5:44808744-44808879	ENSG00000251141.1
14	lnc-FGF10-3	chr5:44813019-44813187	l_2917_chr5:44777367-44844699_brain
15	lnc-FGF10-3	chr5:44808744-44808768	ENSG00000251141.1
16	lnc-MRPS30-8	chr5:44826178-44828694	ENSG00000272335.1
17	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
18	lnc-FGF10-3	chr5:44808744-44808895	NR_109863
19	lnc-MRPS30-7	chr5:44815321-44815665	NONHSAT101352
20	lnc-FGF10-3	chr5:44808744-44808828	ENSG00000251141.1
21	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
22	lnc-FGF10-3	chr5:44808744-44808838	ENSG00000251141.1
23	lnc-FGF10-3	chr5:44813768-44813851	l_2917_chr5:44777367-44844699_brain
24	lnc-MRPS30-8	chr5:44826678-44828418	NONHSAT101354
25	lnc-MRPS30-8	chr5:44830990-44831818	NONHSAT101354

No data

Variant related genes	Relation type
ENSG00000251141	TF binding region
MRPS30	TF binding region
ENSG00000272335	TF binding region
ENSG00000251141	CpG island
MRPS30	CpG island
ENSG00000272335	CpG island
ENSG00000248092	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000115419	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000248724	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000138674	chromatin interactions
ENSG00000181418	chromatin interactions
ENSG00000129460	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000251022	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000079332	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000142892	chromatin interactions
ENSG00000112078	chromatin interactions
ENSG00000179165	chromatin interactions
ENSG00000113971	chromatin interactions
ENSG00000272335	chromatin interactions
ENSG00000205937	chromatin interactions
ENSG00000112996	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000157193	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000168152	chromatin interactions
ENSG00000207715	chromatin interactions
ENSG00000101191	chromatin interactions
ENSG00000260778	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000272888	chromatin interactions

Extended variants
information (count: 1875 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1875 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10462081	chr5:44800665-44800666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184742925	chr5:44800732-44800733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190070429	chr5:44800772-44800773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573561455	chr5:44800864-44800865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375667235	chr5:44800907-44800908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542681047	chr5:44800908-44800909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10462082	chr5:44800917-44800918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs528227565	chr5:44800975-44800976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181368501	chr5:44801020-44801021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551537288	chr5:44801022-44801023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116166439	chr5:44801029-44801030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186284251	chr5:44801209-44801210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77956990	chr5:44801245-44801246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567603197	chr5:44801269-44801270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139230619	chr5:44801303-44801304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35937343	chr5:44801403-44801404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547035843	chr5:44801407-44801408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536220247	chr5:44801424-44801425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539147600	chr5:44801444-44801445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144039993	chr5:44801476-44801477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146498198	chr5:44801493-44801494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537299324	chr5:44801494-44801495	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557316445	chr5:44801522-44801523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16901971	chr5:44801532-44801533	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542245526	chr5:44801535-44801536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112285544	chr5:44801624-44801625	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149712033	chr5:44801636-44801637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544745887	chr5:44801643-44801644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565097098	chr5:44801656-44801657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528928647	chr5:44801782-44801783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531014623	chr5:44801787-44801788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550833003	chr5:44801816-44801817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368570799	chr5:44801819-44801820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561437847	chr5:44801831-44801832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375660186	chr5:44801850-44801851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557034573	chr5:44801857-44801858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573056748	chr5:44801862-44801863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547410539	chr5:44801866-44801867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576645608	chr5:44801875-44801876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530458007	chr5:44801885-44801886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546655200	chr5:44801949-44801950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566902627	chr5:44801974-44801975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532640689	chr5:44801975-44801976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544122523	chr5:44802015-44802016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs55700452	chr5:44802066-44802067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112544184	chr5:44802077-44802078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372205022	chr5:44802094-44802095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571441023	chr5:44802124-44802125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190845946	chr5:44802135-44802136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145642179	chr5:44802137-44802138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
2	chr5:44796800-44800800	Strong transcription	Hela-S3	cervix
3	chr5:44799200-44806800	Weak transcription	Dnd41	blood
4	chr5:44800800-44801200	Weak transcription	Hela-S3	cervix
5	chr5:44801200-44802000	Strong transcription	Hela-S3	cervix
6	chr5:44802000-44802200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr5:44802000-44802200	Weak transcription	Hela-S3	cervix
8	chr5:44802200-44805400	Genic enhancers	Hela-S3	cervix
9	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:44802800-44803000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:44805400-44806400	Enhancers	Fetal Lung	lung
12	chr5:44805400-44807400	Flanking Active TSS	Hela-S3	cervix
13	chr5:44806200-44807200	Enhancers	K562	blood
14	chr5:44806400-44806600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr5:44806400-44807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:44806400-44807200	Enhancers	Brain Anterior Caudate	brain
17	chr5:44806400-44807200	Weak transcription	Fetal Lung	lung
18	chr5:44806400-44809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:44806600-44808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:44806800-44807200	Enhancers	Dnd41	blood
21	chr5:44806800-44807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:44806800-44807400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:44806800-44807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:44806800-44807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:44806800-44808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:44806800-44808200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:44806800-44808600	Enhancers	NHEK	skin
28	chr5:44807000-44807200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:44807000-44807400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr5:44807000-44807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:44807000-44807800	Enhancers	HMEC	breast
32	chr5:44807000-44808200	Enhancers	GM12878-XiMat	blood
33	chr5:44807200-44807400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:44807200-44807600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr5:44807200-44807600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:44807200-44807600	Flanking Active TSS	Dnd41	blood
37	chr5:44807200-44807800	Flanking Active TSS	K562	blood
38	chr5:44807200-44808000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr5:44807200-44808200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:44807200-44808200	Enhancers	Fetal Lung	lung
41	chr5:44807200-44810600	Active TSS	Brain Anterior Caudate	brain
42	chr5:44807200-44811000	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr5:44807400-44807600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr5:44807400-44807600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:44807400-44807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:44807400-44807600	Enhancers	Colon Smooth Muscle	Colon
47	chr5:44807400-44807600	Enhancers	Fetal Intestine Large	intestine
48	chr5:44807400-44807600	Enhancers	Rectal Smooth Muscle	rectum
49	chr5:44807400-44807600	Active TSS	Hela-S3	cervix
50	chr5:44807400-44808000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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