Variant report

Variant	nsv597933
Chromosome Location	chr5:44740989-44810740
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1253)
CpG islands
(count:916)
Chromatin interactive
region (count:52)
LncRNA
region (count:52)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1253 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:44808606-44809530	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:44809867-44810155	K562	blood:	n/a	n/a
3	ARID3A	chr5:44808615-44809027	K562	blood:	n/a	n/a
4	ARID3A	chr5:44774361-44774790	K562	blood:	n/a	n/a
5	ATF1	chr5:44807350-44807613	K562	blood:	n/a	n/a
6	ATF1	chr5:44806365-44807047	K562	blood:	n/a	n/a
7	ATF1	chr5:44797621-44798338	K562	blood:	n/a	n/a
8	ATF1	chr5:44808659-44809228	K562	blood:	n/a	n/a
9	ATF1	chr5:44790478-44790538	K562	blood:	n/a	n/a
10	ATF2	chr5:44808643-44809367	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr5:44808557-44809157	GM12878	blood:	n/a	n/a
12	ATF3	chr5:44808694-44809086	K562	blood:	n/a	n/a
13	ATF3	chr5:44809365-44809713	K562	blood:	n/a	n/a
14	BACH1	chr5:44807560-44807730	K562	blood:	n/a	n/a
15	BATF	chr5:44747582-44747813	GM12878	blood:	n/a	chr5:44747696-44747705
16	BATF	chr5:44747625-44747850	GM12878	blood:	n/a	chr5:44747696-44747705
17	BCLAF1	chr5:44808520-44809248	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	BHLHE40	chr5:44808613-44810001	GM12878	blood:	n/a	n/a
21	BHLHE40	chr5:44808566-44810152	K562	blood:	n/a	n/a
22	BRCA1	chr5:44774157-44774752	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr5:44792097-44792570	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr5:44809441-44810447	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr5:44789624-44789633	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:44808256-44809228	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr5:44808997-44809228	HepG2	liver:	n/a	n/a
28	BRCA1	chr5:44762067-44762078	GM12878	blood:	n/a	n/a
29	BRCA1	chr5:44768881-44772071	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr5:44808641-44809341	HCT-116	colon:	n/a	n/a
31	CBX3	chr5:44808529-44809395	HCT-116	colon:	n/a	n/a
32	CBX3	chr5:44808635-44809235	K562	blood:	n/a	n/a
33	CBX3	chr5:44793194-44793493	K562	blood:	n/a	n/a
34	CBX3	chr5:44808620-44809310	K562	blood:	n/a	n/a
35	CCNT2	chr5:44808711-44809742	K562	blood:	n/a	n/a
36	CEBPB	chr5:44809633-44809978	K562	blood:	n/a	n/a
37	CEBPB	chr5:44800369-44800605	K562	blood:	n/a	chr5:44800467-44800480 chr5:44800469-44800480 chr5:44800467-44800478
38	CEBPB	chr5:44808540-44809474	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
39	CEBPB	chr5:44750056-44750315	A549	lung:	n/a	n/a
40	CEBPB	chr5:44808659-44809388	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
41	CEBPB	chr5:44749998-44750314	IMR90	lung:	n/a	n/a
42	CEBPB	chr5:44802127-44802471	HepG2	liver:	n/a	n/a
43	CEBPB	chr5:44808628-44809421	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
44	CEBPB	chr5:44800398-44800610	HepG2	liver:	n/a	chr5:44800467-44800480 chr5:44800469-44800480 chr5:44800467-44800478
45	CEBPB	chr5:44808501-44809447	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
46	CEBPB	chr5:44808729-44809224	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
47	CEBPB	chr5:44802174-44802431	A549	lung:	n/a	n/a
48	CEBPB	chr5:44808691-44809335	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
49	CEBPB	chr5:44769390-44769488	K562	blood:	n/a	chr5:44769475-44769486
50	CEBPB	chr5:44808722-44809277	H1-hESC	embryonic stem cell:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44809616-44809666	HCPEpiC	choroid plexus:	n/a
2	chr5:44809616-44809666	HCPEpiC	choroid plexus:	n/a
3	chr5:44808792-44808842	AoSMC	blood vessel:	n/a
4	chr5:44809098-44809148	ProgFib	skin:	n/a
5	chr5:44809616-44809666	AG09309	skin:	n/a
6	chr5:44808792-44808842	MCF10A-Er-Src	breast:	n/a
7	chr5:44806923-44806973	NH-A	brain:	n/a
8	chr5:44762293-44762343	PrEC	prostate:	n/a
9	chr5:44806923-44806973	HCM	heart:	n/a
10	chr5:44809978-44810028	ECC-1	luminal epithelium:	n/a
11	chr5:44808992-44809042	HPAEpiC	pulmonary alveolar:	n/a
12	chr5:44809054-44809104	Hepatocyte	liver:	n/a
13	chr5:44808944-44808994	MCF-7	breast:	n/a
14	chr5:44807541-44807591	HUVEC	blood vessel:	n/a
15	chr5:44808792-44808842	HRPEpiC	eye:	n/a
16	chr5:44808992-44809042	H1-hESC	embryonic stem cell:	embryo
17	chr5:44809789-44809839	HUVEC	blood vessel:	n/a
18	chr5:44809829-44809879	HCF	heart:	n/a
19	chr5:44808838-44808888	HUVEC	blood vessel:	n/a
20	chr5:44808838-44808888	CMK	blood:	n/a
21	chr5:44809978-44810028	HNPCEpiC	eye:	n/a
22	chr5:44808944-44808994	PANC-1	pancreas:	n/a
23	chr5:44807541-44807591	PFSK-1	brain:	n/a
24	chr5:44808985-44809035	GM12892	blood:	n/a
25	chr5:44809829-44809879	SKMC	muscle:	n/a
26	chr5:44809978-44810028	NHBE	bronchial:	n/a
27	chr5:44806923-44806973	MCF-7	breast:	n/a
28	chr5:44808992-44809042	AG09319	gingival:	n/a
29	chr5:44808792-44808842	PrEC	prostate:	n/a
30	chr5:44809054-44809104	HL-60	blood:	n/a
31	chr5:44809829-44809879	Hepatocyte	liver:	n/a
32	chr5:44809054-44809104	SKMC	muscle:	n/a
33	chr5:44809054-44809104	AG09319	gingival:	n/a
34	chr5:44809098-44809148	Hela-S3	cervix:	n/a
35	chr5:44809978-44810028	HUVEC	blood vessel:	n/a
36	chr5:44809054-44809104	HCPEpiC	choroid plexus:	n/a
37	chr5:44809616-44809666	NHBE	bronchial:	n/a
38	chr5:44809829-44809879	AG10803	skin:	n/a
39	chr5:44809616-44809666	A549	lung:	n/a
40	chr5:44809829-44809879	ProgFib	skin:	n/a
41	chr5:44808992-44809042	HNPCEpiC	eye:	n/a
42	chr5:44808985-44809035	AG04449	skin:	fetal
43	chr5:44809616-44809666	HRCEpiC	kidney:	n/a
44	chr5:44807541-44807591	MCF10A-Er-Src	breast:	n/a
45	chr5:44808838-44808888	LNCaP	prostate:	n/a
46	chr5:44809978-44810028	HRPEpiC	eye:	n/a
47	chr5:44809098-44809148	GM12878	blood:	n/a
48	chr5:44809054-44809104	GM12892	blood:	n/a
49	chr5:44808992-44809042	HAEpiC	amniotic membrane:	n/a
50	chr5:44807541-44807591	HCF	heart:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:44332593..44333484-chr5:44774049..44774688,2	MCF-7	breast:
2	chr5:44738641..44741209-chr5:44744328..44746903,2	MCF-7	breast:
3	chr5:44738641..44741209-chr5:44744328..44746903,2	MCF-7	breast:
4	chr10:102821336..102821906-chr5:44808729..44809463,2	Hela-S3	cervix:
5	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
6	chr12:49392278..49393242-chr5:44808988..44809561,2	Hela-S3	cervix:
7	chr5:44808957..44809562-chr9:124132087..124132930,2	Hela-S3	cervix:
8	chr5:44796071..44797749-chr5:44808242..44810334,2	MCF-7	breast:
9	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
10	chr5:44808999..44809744-chr7:72971733..72972413,2	Hela-S3	cervix:
11	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
12	chr5:44792884..44795395-chr5:44807561..44809929,2	MCF-7	breast:
13	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:
14	chr17:7591709..7592384-chr5:44809087..44809902,2	Hela-S3	cervix:
15	chr19:14529681..14530530-chr5:44809016..44809604,2	Hela-S3	cervix:
16	chr10:71929901..71930548-chr5:44808772..44809281,2	Hela-S3	cervix:
17	chr5:44566070..44567053-chr5:44740584..44741688,3	MCF-7	breast:
18	chr5:44735185..44737319-chr5:44746827..44749137,2	K562	blood:
19	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:
20	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:
21	chr5:44808786..44809598-chr5:172197780..172198613,2	Hela-S3	cervix:
22	chr5:43661322..43661875-chr5:44774131..44774652,2	MCF-7	breast:
23	chr5:44796042..44798204-chr5:44807036..44809838,2	K562	blood:
24	chr17:73775676..73776311-chr5:44809199..44809853,2	Hela-S3	cervix:
25	chr5:44515416..44516161-chr5:44771878..44772607,2	MCF-7	breast:
26	chr5:44753314..44754830-chr5:44809526..44812150,2	MCF-7	breast:
27	chr16:2317728..2318295-chr5:44808823..44809613,2	Hela-S3	cervix:
28	chr20:61557361..61558053-chr5:44808686..44809479,2	Hela-S3	cervix:
29	chr5:44638055..44639129-chr5:44774184..44775079,3	MCF-7	breast:
30	chr2:171785493..171786293-chr5:44809583..44810173,2	Hela-S3	cervix:
31	chr5:44803599..44805422-chr5:44807607..44810623,4	MCF-7	breast:
32	chr4:83821443..83822373-chr5:44808683..44809463,2	Hela-S3	cervix:
33	chr5:44777877..44780839-chr5:44824446..44826409,2	K562	blood:
34	chr5:44536611..44537431-chr5:44774185..44774879,3	MCF-7	breast:
35	chr4:40058800..40059461-chr5:44808324..44809273,2	Hela-S3	cervix:
36	chr5:44761220..44763661-chr5:44767534..44769293,2	MCF-7	breast:
37	chr5:44808723..44809249-chr7:100026295..100026950,2	Hela-S3	cervix:
38	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
39	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:
40	chr5:44495531..44496060-chr5:44774142..44775059,2	MCF-7	breast:
41	chr5:44800337..44802609-chr5:44815368..44818346,2	K562	blood:
42	chr3:132440899..132441670-chr5:44809571..44810212,2	Hela-S3	cervix:
43	chr3:196044330..196045109-chr5:44808668..44809542,2	Hela-S3	cervix:
44	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
45	chr5:44761220..44763661-chr5:44767534..44769293,2	MCF-7	breast:
46	chr11:17099102..17099608-chr5:44808888..44809410,2	Hela-S3	cervix:
47	chr14:23938468..23939352-chr5:44808810..44809313,2	Hela-S3	cervix:
48	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
49	chr5:43729712..43730620-chr5:44774057..44774967,2	K562	blood:
50	chr5:44741005..44742983-chr5:44752675..44754854,2	K562	blood:

(count:52 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPS30-1	chr5:44765416-44765846	XLOC_004373
2	lnc-FGF10-3	chr5:44746044-44746140	NR_109864
3	lnc-FGF10-3	chr5:44808744-44808843	ENSG00000251141.1
4	lnc-FGF10-3	chr5:44808744-44808895	NR_109863
5	lnc-FGF10-3	chr5:44746044-44746140	NONHSAT101340
6	lnc-FGF10-3	chr5:44745317-44745510	NONHSAT101340
7	lnc-FGF10-3	chr5:44744430-44745510	NR_109862
8	lnc-FGF10-3	chr5:44808744-44808828	ENSG00000251141.1
9	lnc-FGF10-3	chr5:44808744-44808895	NR_109865
10	lnc-FGF10-3	chr5:44746044-44746140	ENSG00000251141.1
11	lnc-FGF10-3	chr5:44781801-44781897	l_2917_chr5:44777367-44844699_brain
12	lnc-FGF10-3	chr5:44777139-44777203	ENSG00000251141.1
13	lnc-FGF10-3	chr5:44808744-44808895	NR_109864
14	lnc-FGF10-3	chr5:44808744-44808881	NONHSAT147331
15	lnc-FGF10-3	chr5:44775796-44776277	ENSG00000251141.1
16	lnc-FGF10-3	chr5:44745002-44745506	ENSG00000251141.1
17	lnc-FGF10-3	chr5:44776858-44777430	ENSG00000251141.1
18	lnc-FGF10-3	chr5:44808744-44808895	NR_109862
19	lnc-FGF10-3	chr5:44746044-44746140	NR_109865
20	lnc-FGF10-3	chr5:44777139-44777203	ENSG00000251141.1
21	lnc-FGF10-3	chr5:44777168-44777430	ENSG00000251141.1
22	lnc-FGF10-3	chr5:44744430-44745506	NR_109865
23	lnc-FGF10-3	chr5:44746044-44746140	NR_109862
24	lnc-FGF10-3	chr5:44778011-44778094	ENSG00000251141.1
25	lnc-FGF10-3	chr5:44777139-44777203	NR_109862
26	lnc-FGF10-3	chr5:44777368-44777665	l_2917_chr5:44777367-44844699_brain
27	lnc-FGF10-3	chr5:44785151-44785283	ENSG00000251141.1
28	lnc-FGF10-3	chr5:44777139-44777203	NR_109863
29	lnc-FGF10-3	chr5:44808744-44808844	ENSG00000251141.1
30	lnc-FGF10-3	chr5:44746044-44746140	ENSG00000251141.1
31	lnc-FGF10-3	chr5:44747729-44747798	ENSG00000251141.1
32	lnc-FGF10-3	chr5:44747729-44747776	NONHSAT101340
33	lnc-FGF10-3	chr5:44786928-44787054	ENSG00000251141.1
34	lnc-FGF10-3	chr5:44746044-44746140	NR_109863
35	lnc-FGF10-3	chr5:44746099-44746140	ENSG00000251141.1
36	lnc-FGF10-3	chr5:44777306-44777430	ENSG00000251141.1
37	lnc-FGF10-3	chr5:44746044-44746140	ENSG00000251141.1
38	lnc-FGF10-3	chr5:44778011-44778094	ENSG00000251141.1
39	lnc-FGF10-3	chr5:44808744-44808768	ENSG00000251141.1
40	lnc-FGF10-3	chr5:44777139-44777203	ENSG00000251141.1
41	lnc-FGF10-3	chr5:44808744-44808861	ENSG00000251141.1
42	lnc-FGF10-3	chr5:44745111-44745506	ENSG00000251141.1
43	lnc-FGF10-3	chr5:44808744-44808838	ENSG00000251141.1
44	lnc-FGF10-3	chr5:44745240-44745510	ENSG00000251141.1
45	lnc-FGF10-3	chr5:44777685-44781267	l_2917_chr5:44777367-44844699_brain
46	lnc-FGF10-3	chr5:44808744-44808879	ENSG00000251141.1
47	lnc-FGF10-3	chr5:44746047-44746140	NONHSAT147331
48	lnc-FGF10-3	chr5:44744430-44745506	NR_109863
49	lnc-MRPS30-1	chr5:44762188-44762264	XLOC_004373
50	lnc-MRPS30-1	chr5:44753051-44753133	XLOC_004373

No data

Variant related genes	Relation type
MRPS30	TF binding region
ENSG00000248779	TF binding region
ENSG00000251141	TF binding region
MRPS30	CpG island
ENSG00000248779	CpG island
ENSG00000251141	CpG island
ENSG00000142892	chromatin interactions
ENSG00000112078	chromatin interactions
ENSG00000129460	chromatin interactions
ENSG00000205937	chromatin interactions
ENSG00000248724	chromatin interactions
ENSG00000101191	chromatin interactions
ENSG00000110700	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000141499	chromatin interactions
ENSG00000248779	chromatin interactions
ENSG00000115806	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000172262	chromatin interactions
ENSG00000213123	chromatin interactions
ENSG00000251141	chromatin interactions
ENSG00000112996	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000207715	chromatin interactions
ENSG00000157193	chromatin interactions
ENSG00000115419	chromatin interactions
ENSG00000179165	chromatin interactions
ENSG00000205794	chromatin interactions
ENSG00000272888	chromatin interactions
ENSG00000251022	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000079332	chromatin interactions
ENSG00000181418	chromatin interactions
ENSG00000168152	chromatin interactions
ENSG00000248092	chromatin interactions
ENSG00000112992	chromatin interactions
ENSG00000260778	chromatin interactions
ENSG00000123136	chromatin interactions
ENSG00000113971	chromatin interactions
ENSG00000272741	chromatin interactions
ENSG00000272335	chromatin interactions
ENSG00000138674	chromatin interactions

Extended variants
information (count: 2042 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2042 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2330572	chr5:44740989-44740990	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561586388	chr5:44741029-44741030	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551922459	chr5:44741058-44741059	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571750711	chr5:44741064-44741065	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537697059	chr5:44741135-44741136	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138410259	chr5:44741180-44741181	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550248413	chr5:44741181-44741182	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568004296	chr5:44741187-44741188	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536633490	chr5:44741217-44741218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs76483415	chr5:44741281-44741282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368204987	chr5:44741322-44741323	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs207465991	chr5:44741329-44741330	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs13180428	chr5:44741372-44741373	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs545178136	chr5:44741427-44741428	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs58446347	chr5:44741481-44741482	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113755346	chr5:44741556-44741557	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543261049	chr5:44741580-44741581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146924483	chr5:44741618-44741619	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529183453	chr5:44741620-44741621	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540869396	chr5:44741631-44741632	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs187191110	chr5:44741653-44741654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs562665923	chr5:44741654-44741655	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559107968	chr5:44741692-44741693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6860030	chr5:44741699-44741700	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs35766914	chr5:44741702-44741703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375428140	chr5:44741716-44741717	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs551194276	chr5:44741718-44741719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571404678	chr5:44741840-44741841	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371592432	chr5:44741866-44741867	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs138030829	chr5:44741893-44741894	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190873405	chr5:44742002-44742003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567928180	chr5:44742033-44742034	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536969102	chr5:44742064-44742065	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577466498	chr5:44742074-44742075	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143511277	chr5:44742103-44742104	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144068928	chr5:44742159-44742160	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539063303	chr5:44742239-44742240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558780448	chr5:44742263-44742264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533221862	chr5:44742265-44742266	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575362136	chr5:44742309-44742310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs60772043	chr5:44742337-44742338	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151036387	chr5:44742399-44742400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556751878	chr5:44742429-44742430	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11401701	chr5:44742446-44742447	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573569537	chr5:44742460-44742461	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148246163	chr5:44742464-44742465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542560676	chr5:44742518-44742519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559260477	chr5:44742521-44742522	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573684524	chr5:44742592-44742593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182333798	chr5:44742621-44742622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Breast cancer	21364760	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

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	chr5:44740600-44741200	Enhancers	Ovary	ovary
2	chr5:44741000-44741200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:44741800-44742000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:44745000-44747600	Weak transcription	Brain Anterior Caudate	brain
5	chr5:44745400-44745600	ZNF genes & repeats	Aorta	Aorta
6	chr5:44745600-44748200	Weak transcription	Aorta	Aorta
7	chr5:44748000-44748200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:44748200-44748600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:44748200-44749200	Enhancers	Aorta	Aorta
10	chr5:44748600-44749400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:44749200-44753200	Weak transcription	Aorta	Aorta
12	chr5:44749400-44749600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:44749600-44750400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:44750200-44751600	Enhancers	Hela-S3	cervix
15	chr5:44750200-44752000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:44750400-44751000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:44750400-44751800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:44751000-44751600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:44751400-44751800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:44751600-44755800	Weak transcription	Hela-S3	cervix
21	chr5:44761200-44761400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:44761200-44761800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:44761200-44762400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:44761200-44762400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:44761200-44762400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:44761400-44761600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr5:44761400-44762400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:44761400-44762600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:44761600-44762600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:44761800-44762200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:44761800-44762200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:44762200-44762600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:44762200-44762600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:44767200-44767400	Enhancers	Hela-S3	cervix
35	chr5:44767400-44768400	Weak transcription	Hela-S3	cervix
36	chr5:44768400-44769800	Enhancers	Hela-S3	cervix
37	chr5:44769000-44769400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:44769200-44771800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:44769800-44770400	Flanking Active TSS	Hela-S3	cervix
40	chr5:44769800-44771000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:44770000-44770200	Enhancers	Adipose Nuclei	Adipose
42	chr5:44770200-44770800	Weak transcription	Adipose Nuclei	Adipose
43	chr5:44770400-44776000	Enhancers	Hela-S3	cervix
44	chr5:44770800-44771000	Enhancers	Osteobl	bone
45	chr5:44770800-44771600	Enhancers	Adipose Nuclei	Adipose
46	chr5:44771000-44771400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:44771000-44771800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:44771400-44772000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:44771800-44773200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:44772000-44773200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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