Variant report

Variant	nsv881629
Chromosome Location	chr5:44796042-44836788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:935)
CpG islands
(count:855)
Chromatin interactive
region (count:50)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr5:44809867-44810155	K562	blood:	n/a	n/a
3	ARID3A	chr5:44808606-44809530	HepG2	liver:	n/a	n/a
4	ATF1	chr5:44808659-44809228	K562	blood:	n/a	n/a
5	ATF1	chr5:44834388-44834439	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	chr5:44807350-44807613	K562	blood:	n/a	n/a
9	ATF2	chr5:44808643-44809367	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr5:44808557-44809157	GM12878	blood:	n/a	n/a
11	ATF3	chr5:44808694-44809086	K562	blood:	n/a	n/a
12	ATF3	chr5:44809365-44809713	K562	blood:	n/a	n/a
13	BACH1	chr5:44807560-44807730	K562	blood:	n/a	n/a
14	BACH1	chr5:44812721-44812997	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	chr5:44801388-44801511	K562	blood:	n/a	n/a
18	BHLHE40	chr5:44808613-44810001	GM12878	blood:	n/a	n/a
19	BHLHE40	chr5:44808837-44809612	HepG2	liver:	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	chr5:44808529-44809395	HCT-116	colon:	n/a	n/a
25	CBX3	chr5:44808635-44809235	K562	blood:	n/a	n/a
26	CBX3	chr5:44808641-44809341	HCT-116	colon:	n/a	n/a
27	CCNT2	chr5:44808711-44809742	K562	blood:	n/a	n/a
28	CCNT2	chr5:44814056-44814236	K562	blood:	n/a	n/a
29	CCNT2	chr5:44819239-44819439	K562	blood:	n/a	n/a
30	CEBPB	chr5:44808703-44809264	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
31	CEBPB	chr5:44808761-44809187	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
32	CEBPB	chr5:44811150-44811434	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr5:44808478-44809340	K562	blood:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
34	CEBPB	chr5:44808676-44809322	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
35	CEBPB	chr5:44802174-44802431	A549	lung:	n/a	n/a
36	CEBPB	chr5:44806972-44807745	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr5:44802101-44802488	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr5:44808714-44809296	HepG2	liver:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
39	CEBPB	chr5:44802144-44802484	IMR90	lung:	n/a	n/a
40	CEBPB	chr5:44808501-44809447	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
41	CEBPB	chr5:44808540-44809474	HCT-116	colon:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
42	CEBPB	chr5:44808659-44809388	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
43	CEBPB	chr5:44800407-44800549	H1-hESC	embryonic stem cell:	n/a	chr5:44800467-44800480 chr5:44800469-44800480 chr5:44800467-44800478
44	CEBPB	chr5:44808729-44809218	A549	lung:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
45	CEBPB	chr5:44808558-44810095	Hela-S3	cervix:	n/a	chr5:44808908-44808916 chr5:44808596-44808607 chr5:44808924-44808937 chr5:44808925-44808936 chr5:44808594-44808607
46	CEBPB	chr5:44802127-44802471	HepG2	liver:	n/a	n/a
47	CEBPB	chr5:44808628-44809266	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
48	CEBPB	chr5:44810956-44811416	K562	blood:	n/a	chr5:44810972-44810984
49	CEBPB	chr5:44800369-44800605	K562	blood:	n/a	chr5:44800467-44800480 chr5:44800469-44800480 chr5:44800467-44800478
50	CEBPB	chr5:44800398-44800610	HepG2	liver:	n/a	chr5:44800467-44800480 chr5:44800469-44800480 chr5:44800467-44800478

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:44809098-44809148	ECC-1	luminal epithelium:	n/a
2	chr5:44809098-44809148	ECC-1	luminal epithelium:	n/a
3	chr5:44807541-44807591	Hela-S3	cervix:	n/a
4	chr5:44809054-44809104	HCF	heart:	n/a
5	chr5:44808985-44809035	NHDF-neo	bronchial:	n/a
6	chr5:44808879-44808929	IMR90	lung:	fetal
7	chr5:44808985-44809035	HUVEC	blood vessel:	n/a
8	chr5:44809789-44809839	K562	blood:	n/a
9	chr5:44808985-44809035	GM12892	blood:	n/a
10	chr5:44808838-44808888	PrEC	prostate:	n/a
11	chr5:44808944-44808994	NT2-D1	testis:	n/a
12	chr5:44808944-44808994	HCM	heart:	n/a
13	chr5:44809054-44809104	K562	blood:	n/a
14	chr5:44809829-44809879	SK-N-SH	brain:	n/a
15	chr5:44806923-44806973	U87	brain:	n/a
16	chr5:44807541-44807591	BJ	skin:	n/a
17	chr5:44809098-44809148	GM06990	blood:	n/a
18	chr5:44808838-44808888	K562	blood:	n/a
19	chr5:44808985-44809035	GM19239	blood:	n/a
20	chr5:44808838-44808888	ProgFib	skin:	n/a
21	chr5:44808838-44808888	Jurkat	blood:	n/a
22	chr5:44808985-44809035	SK-N-SH	brain:	n/a
23	chr5:44808838-44808888	HRPEpiC	eye:	n/a
24	chr5:44809098-44809148	AG09309	skin:	n/a
25	chr5:44808992-44809042	GM12891	blood:	n/a
26	chr5:44809829-44809879	A549	lung:	n/a
27	chr5:44809789-44809839	NH-A	brain:	n/a
28	chr5:44809829-44809879	SK-N-MC	brain:	n/a
29	chr5:44809054-44809104	SK-N-SH	brain:	n/a
30	chr5:44809789-44809839	GM12891	blood:	n/a
31	chr5:44809978-44810028	SK-N-SH_RA	brain:	n/a
32	chr5:44808879-44808929	HIPEpiC	eye:	n/a
33	chr5:44808838-44808888	SK-N-SH_RA	brain:	n/a
34	chr5:44808838-44808888	HNPCEpiC	eye:	n/a
35	chr5:44809978-44810028	BJ	skin:	n/a
36	chr5:44806923-44806973	HCM	heart:	n/a
37	chr5:44807541-44807591	AG04450	lung:	fetal
38	chr5:44808944-44808994	NHBE	bronchial:	n/a
39	chr5:44809054-44809104	AG09309	skin:	n/a
40	chr5:44808944-44808994	ProgFib	skin:	n/a
41	chr5:44809789-44809839	GM19239	blood:	n/a
42	chr5:44808838-44808888	SKMC	muscle:	n/a
43	chr5:44808792-44808842	Caco-2	colon:	n/a
44	chr5:44809054-44809104	HCT-116	colon:	n/a
45	chr5:44808992-44809042	HEK293	kidney:	embryo
46	chr5:44808944-44808994	NHDF-neo	bronchial:	n/a
47	chr5:44808879-44808929	T-47D	breast:	n/a
48	chr5:44809054-44809104	SK-N-MC	brain:	n/a
49	chr5:44809616-44809666	MCF-7	breast:	n/a
50	chr5:44809829-44809879	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr3:196044330..196045109-chr5:44808668..44809542,2	Hela-S3	cervix:
2	chr2:171785493..171786293-chr5:44809583..44810173,2	Hela-S3	cervix:
3	chr19:14529681..14530530-chr5:44809016..44809604,2	Hela-S3	cervix:
4	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:
5	chr10:71929901..71930548-chr5:44808772..44809281,2	Hela-S3	cervix:
6	chr5:44817948..44820754-chr5:44857369..44859717,2	K562	blood:
7	chr1:53793010..53793667-chr5:44808690..44809499,2	Hela-S3	cervix:
8	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
9	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
10	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
11	chr4:40058800..40059461-chr5:44808324..44809273,2	Hela-S3	cervix:
12	chr5:44796042..44798204-chr5:44807036..44809838,2	K562	blood:
13	chr4:83821443..83822373-chr5:44808683..44809463,2	Hela-S3	cervix:
14	chr5:44808556..44810835-chr5:44829625..44832716,3	K562	blood:
15	chr3:132440899..132441670-chr5:44809571..44810212,2	Hela-S3	cervix:
16	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
17	chr14:23938468..23939352-chr5:44808810..44809313,2	Hela-S3	cervix:
18	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
19	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
20	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
21	chr5:44796071..44797749-chr5:44808242..44810334,2	MCF-7	breast:
22	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:
23	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
24	chr5:44799408..44802083-chr5:44803871..44806335,2	K562	blood:
25	chr5:44808786..44809598-chr5:172197780..172198613,2	Hela-S3	cervix:
26	chr17:73775676..73776311-chr5:44809199..44809853,2	Hela-S3	cervix:
27	chr5:44821717..44824511-chr5:44825492..44828126,3	K562	blood:
28	chr5:44808999..44809744-chr7:72971733..72972413,2	Hela-S3	cervix:
29	chr10:102821336..102821906-chr5:44808729..44809463,2	Hela-S3	cervix:
30	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
31	chr16:2317728..2318295-chr5:44808823..44809613,2	Hela-S3	cervix:
32	chr5:44808723..44809249-chr7:100026295..100026950,2	Hela-S3	cervix:
33	chr5:44821381..44823863-chr5:44831325..44835475,4	K562	blood:
34	chr5:44808957..44809562-chr9:124132087..124132930,2	Hela-S3	cervix:
35	chr5:44808765..44814014-chr5:44819023..44823010,7	MCF-7	breast:
36	chr5:44812314..44818024-chr5:44831286..44835501,6	K562	blood:
37	chr5:44794554..44800071-chr5:44801416..44804503,5	K562	blood:
38	chr5:44803599..44805422-chr5:44807607..44810623,4	MCF-7	breast:
39	chr20:61557361..61558053-chr5:44808686..44809479,2	Hela-S3	cervix:
40	chr11:17099102..17099608-chr5:44808888..44809410,2	Hela-S3	cervix:
41	chr17:7591709..7592384-chr5:44809087..44809902,2	Hela-S3	cervix:
42	chr5:43119582..43121268-chr5:44806761..44809128,2	K562	blood:
43	chr12:49392278..49393242-chr5:44808988..44809561,2	Hela-S3	cervix:
44	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:
45	chr5:44818219..44821058-chr5:44821890..44824873,2	MCF-7	breast:
46	chr5:44819705..44824396-chr5:44829069..44835270,7	K562	blood:
47	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
48	chr5:44822913..44824957-chr5:44836679..44838999,2	K562	blood:
49	chr5:44800337..44802609-chr5:44815368..44818346,2	K562	blood:
50	chr5:44800337..44802609-chr5:44815368..44818346,2	K562	blood:

(count:23 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1498 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1498 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs727305	chr5:44796042-44796043	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185121971	chr5:44796051-44796052	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs2330619	chr5:44796062-44796063	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs546520340	chr5:44796187-44796188	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549798284	chr5:44796244-44796245	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370497690	chr5:44796260-44796261	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs562833667	chr5:44796265-44796266	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs727303	chr5:44796285-44796286	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs727304	chr5:44796290-44796291	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs565886138	chr5:44796306-44796307	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs956404	chr5:44796310-44796311	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539231410	chr5:44796326-44796327	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558069726	chr5:44796341-44796342	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546454842	chr5:44796349-44796350	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs566704490	chr5:44796360-44796361	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs150521007	chr5:44796377-44796378	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537502321	chr5:44796428-44796429	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs201962498	chr5:44796482-44796483	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189233598	chr5:44796483-44796484	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs371540646	chr5:44796539-44796540	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537466769	chr5:44796548-44796549	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs193076201	chr5:44796570-44796571	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs566287928	chr5:44796605-44796606	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574431415	chr5:44796620-44796621	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184782189	chr5:44796651-44796652	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs534538779	chr5:44796681-44796682	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs34234141	chr5:44796712-44796713	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368216423	chr5:44796728-44796729	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139466921	chr5:44796741-44796742	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555346181	chr5:44796773-44796774	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs188378657	chr5:44796779-44796780	ZNF genes & repeats Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs149653809	chr5:44796823-44796824	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542229851	chr5:44796832-44796833	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562093470	chr5:44796887-44796888	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs371928055	chr5:44796924-44796925	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs146700987	chr5:44796937-44796938	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs13177711	chr5:44796962-44796963	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs72754298	chr5:44796979-44796980	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532335422	chr5:44797006-44797007	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs180688053	chr5:44797032-44797033	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35842403	chr5:44797114-44797115	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs537780153	chr5:44797127-44797128	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs554143100	chr5:44797130-44797131	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139159319	chr5:44797157-44797158	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184214956	chr5:44797181-44797182	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs77937530	chr5:44797194-44797195	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs578145481	chr5:44797196-44797197	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs144115372	chr5:44797209-44797210	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs189536984	chr5:44797211-44797212	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113435849	chr5:44797222-44797223	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44791400-44798000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:44793400-44796800	ZNF genes & repeats	Hela-S3	cervix
3	chr5:44793600-44796800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr5:44794200-44808600	Weak transcription	Aorta	Aorta
5	chr5:44794400-44796600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:44795600-44796200	ZNF genes & repeats	Brain Angular Gyrus	brain
7	chr5:44795600-44798200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr5:44796800-44800800	Strong transcription	Hela-S3	cervix
9	chr5:44797400-44799200	Enhancers	Dnd41	blood
10	chr5:44797800-44798200	Enhancers	HMEC	breast
11	chr5:44798000-44798200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:44798000-44798200	Enhancers	K562	blood
13	chr5:44798200-44798800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:44798800-44799200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:44799200-44806800	Weak transcription	Dnd41	blood
16	chr5:44800800-44801200	Weak transcription	Hela-S3	cervix
17	chr5:44801200-44802000	Strong transcription	Hela-S3	cervix
18	chr5:44802000-44802200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr5:44802000-44802200	Weak transcription	Hela-S3	cervix
20	chr5:44802200-44805400	Genic enhancers	Hela-S3	cervix
21	chr5:44802200-44807800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:44802800-44803000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:44805400-44806400	Enhancers	Fetal Lung	lung
24	chr5:44805400-44807400	Flanking Active TSS	Hela-S3	cervix
25	chr5:44806200-44807200	Enhancers	K562	blood
26	chr5:44806400-44806600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr5:44806400-44807000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:44806400-44807200	Enhancers	Brain Anterior Caudate	brain
29	chr5:44806400-44807200	Weak transcription	Fetal Lung	lung
30	chr5:44806400-44809000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:44806600-44808400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:44806800-44807200	Enhancers	Dnd41	blood
33	chr5:44806800-44807400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:44806800-44807400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:44806800-44807600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr5:44806800-44807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:44806800-44808000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:44806800-44808200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr5:44806800-44808600	Enhancers	NHEK	skin
40	chr5:44807000-44807200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:44807000-44807400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr5:44807000-44807600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:44807000-44807800	Enhancers	HMEC	breast
44	chr5:44807000-44808200	Enhancers	GM12878-XiMat	blood
45	chr5:44807200-44807400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:44807200-44807600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:44807200-44807600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:44807200-44807600	Flanking Active TSS	Dnd41	blood
49	chr5:44807200-44807800	Flanking Active TSS	K562	blood
50	chr5:44807200-44808000	Enhancers	HUES64 Cell Line	embryonic stem cell

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