Variant report

Variant	esv3409961
Chromosome Location	chr5:14870827-14873250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:535)
CpG islands
(count:855)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:14871003-14871218	HepG2	liver:	n/a	n/a
2	ATF3	chr5:14871995-14872172	K562	blood:	n/a	n/a
3	BACH1	chr5:14872044-14872466	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr5:14871467-14871605	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr5:14871799-14872204	HepG2	liver:	n/a	n/a
6	BHLHE40	chr5:14871725-14872235	GM12878	blood:	n/a	n/a
7	BHLHE40	chr5:14872034-14872193	K562	blood:	n/a	n/a
8	BRCA1	chr5:14872602-14873086	Hela-S3	cervix:	n/a	n/a
9	CCNT2	chr5:14871835-14872494	K562	blood:	n/a	chr5:14872293-14872302 chr5:14872391-14872400 chr5:14872300-14872309
10	CEBPB	chr5:14871936-14873092	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr5:14870966-14871609	Hela-S3	cervix:	n/a	n/a
12	CHD1	chr5:14871627-14873214	IMR90	lung:	n/a	chr5:14872382-14872392
13	CHD2	chr5:14871121-14873136	Hela-S3	cervix:	n/a	chr5:14872382-14872392
14	CREB1	chr5:14871550-14872537	HepG2	liver:	n/a	n/a
15	CREB1	chr5:14872798-14873191	GM12878	blood:	n/a	n/a
16	CREB1	chr5:14871774-14872629	A549	lung:	n/a	n/a
17	CTCF	chr5:14871963-14872176	A549	lung:	n/a	n/a
18	CTCF	chr5:14872326-14872493	SK-N-SH_RA	brain:	n/a	chr5:14872424-14872437
19	CTCF	chr5:14872340-14872490	NHLF	lung:	n/a	chr5:14872424-14872437
20	CTCF	chr5:14872420-14872570	AG09309	skin:	n/a	chr5:14872424-14872437
21	CTCF	chr5:14871941-14872213	GM19238	blood:	n/a	n/a
22	CTCF	chr5:14871932-14872126	T-47D	breast:	n/a	n/a
23	CTCF	chr5:14872270-14872503	H1-hESC	embryonic stem cell:	n/a	chr5:14872424-14872437
24	CTCF	chr5:14872403-14872526	ProgFib	skin:	n/a	chr5:14872424-14872437
25	CTCF	chr5:14871700-14871850	GM12866	blood:	n/a	n/a
26	CTCF	chr5:14871380-14871530	AG04449	skin:	n/a	n/a
27	CTCF	chr5:14872000-14872150	HCT-116	colon:	n/a	n/a
28	CTCF	chr5:14871991-14872168	K562	blood:	n/a	n/a
29	CTCF	chr5:14871933-14872146	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr5:14872357-14872496	NHEK	skin:	n/a	chr5:14872424-14872437
31	CTCF	chr5:14871980-14872130	GM12878	blood:	n/a	n/a
32	CTCF	chr5:14872360-14872510	BE2_C	brain:	n/a	chr5:14872424-14872437
33	CTCF	chr5:14871980-14872130	GM12873	blood:	n/a	n/a
34	CTCF	chr5:14872279-14872496	HepG2	liver:	n/a	chr5:14872424-14872437
35	CTCF	chr5:14872360-14872510	AG09319	gingival:	n/a	chr5:14872424-14872437
36	CTCF	chr5:14871640-14871790	AG04449	skin:	n/a	n/a
37	CTCF	chr5:14872004-14872151	HepG2	liver:	n/a	n/a
38	CTCF	chr5:14872000-14872150	GM12870	blood:	n/a	n/a
39	CTCF	chr5:14871920-14872070	HepG2	liver:	n/a	n/a
40	CTCF	chr5:14871980-14872130	AoAF	blood vessel:	n/a	n/a
41	CTCF	chr5:14872340-14872490	GM12870	blood:	n/a	chr5:14872424-14872437
42	CTCF	chr5:14871944-14872197	GM10266	blood:	n/a	n/a
43	CTCF	chr5:14872420-14872570	AoAF	blood vessel:	n/a	chr5:14872424-14872437
44	CTCF	chr5:14871980-14872130	HMEC	breast:	n/a	n/a
45	CTCF	chr5:14872300-14872450	GM12864	blood:	n/a	chr5:14872424-14872437
46	CTCF	chr5:14872560-14872710	GM12878	blood:	n/a	n/a
47	CTCF	chr5:14872320-14872470	GM12875	blood:	n/a	chr5:14872424-14872437
48	CTCF	chr5:14871717-14872742	IMR90	lung:	n/a	chr5:14872424-14872437
49	CTCF	chr5:14871960-14872110	AG09309	skin:	n/a	n/a
50	CTCF	chr5:14872367-14872497	H1-hESC	embryonic stem cell:	n/a	chr5:14872424-14872437

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14871443-14871493	HCPEpiC	choroid plexus:	n/a
2	chr5:14871443-14871493	HCPEpiC	choroid plexus:	n/a
3	chr5:14872551-14872601	SK-N-SH	brain:	n/a
4	chr5:14871736-14871786	IMR90	lung:	fetal
5	chr5:14871542-14871592	HCPEpiC	choroid plexus:	n/a
6	chr5:14871894-14871944	NHDF-neo	bronchial:	n/a
7	chr5:14873039-14873089	T-47D	breast:	n/a
8	chr5:14872551-14872601	SKMC	muscle:	n/a
9	chr5:14872612-14872662	A549	lung:	n/a
10	chr5:14872207-14872257	GM12892	blood:	n/a
11	chr5:14872207-14872257	AG09309	skin:	n/a
12	chr5:14873039-14873089	HCT-116	colon:	n/a
13	chr5:14871736-14871786	ECC-1	luminal epithelium:	n/a
14	chr5:14871894-14871944	AG09309	skin:	n/a
15	chr5:14871469-14871519	AG10803	skin:	n/a
16	chr5:14871443-14871493	HCF	heart:	n/a
17	chr5:14872934-14872984	AG09309	skin:	n/a
18	chr5:14872612-14872662	BJ	skin:	n/a
19	chr5:14872612-14872662	MCF-7	breast:	n/a
20	chr5:14871443-14871493	HAEpiC	amniotic membrane:	n/a
21	chr5:14873039-14873089	LNCaP	prostate:	n/a
22	chr5:14871736-14871786	GM12891	blood:	n/a
23	chr5:14872384-14872434	AG10803	skin:	n/a
24	chr5:14871845-14871895	NHBE	bronchial:	n/a
25	chr5:14872551-14872601	AG10803	skin:	n/a
26	chr5:14871443-14871493	Jurkat	blood:	n/a
27	chr5:14872612-14872662	SK-N-SH_RA	brain:	n/a
28	chr5:14871736-14871786	HIPEpiC	eye:	n/a
29	chr5:14872551-14872601	MCF-7	breast:	n/a
30	chr5:14871443-14871493	GM12878	blood:	n/a
31	chr5:14872934-14872984	U87	brain:	n/a
32	chr5:14872551-14872601	Caco-2	colon:	n/a
33	chr5:14872612-14872662	HIPEpiC	eye:	n/a
34	chr5:14871908-14871958	HPAEpiC	pulmonary alveolar:	n/a
35	chr5:14871443-14871493	HRE	kidney:	n/a
36	chr5:14871894-14871944	NT2-D1	testis:	n/a
37	chr5:14871910-14871960	SK-N-SH	brain:	n/a
38	chr5:14871894-14871944	ProgFib	skin:	n/a
39	chr5:14871845-14871895	SK-N-SH	brain:	n/a
40	chr5:14871469-14871519	PANC-1	pancreas:	n/a
41	chr5:14872551-14872601	HCT-116	colon:	n/a
42	chr5:14871736-14871786	Hepatocyte	liver:	n/a
43	chr5:14872207-14872257	HCM	heart:	n/a
44	chr5:14871443-14871493	HMEC	breast:	n/a
45	chr5:14872612-14872662	NB4	blood:	n/a
46	chr5:14871736-14871786	HL-60	blood:	n/a
47	chr5:14873039-14873089	MCF-7	breast:	n/a
48	chr5:14872207-14872257	PrEC	prostate:	n/a
49	chr5:14871736-14871786	Jurkat	blood:	n/a
50	chr5:14871469-14871519	BE2_C	brain:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:15736896..15737522-chr5:14872268..14872832,2	Hela-S3	cervix:
2	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
3	chr10:93683034..93683876-chr5:14871412..14872027,2	Hela-S3	cervix:
4	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
5	chr5:14872363..14873864-chr6:26021710..26023410,2	MCF-7	breast:
6	chr12:56511621..56512291-chr5:14872089..14872740,2	Hela-S3	cervix:
7	chr17:41465783..41466320-chr5:14871948..14872665,2	Hela-S3	cervix:
8	chr5:14871557..14872468-chr8:128747896..128748761,2	NB4	blood:
9	chr5:14727596..14728164-chr5:14870078..14871126,3	K562	blood:
10	chr5:14871623..14873903-chr5:14874758..14876587,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM105B-8	chr5:14872441-14872822	ENSG00000272057.1

No data

Variant related genes	Relation type
ENSG00000272057	TF binding region
ANKH	TF binding region
ENSG00000272057	CpG island
ANKH	CpG island
ENSG00000072864	chromatin interactions
ENSG00000139641	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000136997	chromatin interactions
ENSG00000272213	chromatin interactions
ENSG00000250662	chromatin interactions
ENSG00000135482	chromatin interactions
ENSG00000166783	chromatin interactions
ENSG00000249928	chromatin interactions
ENSG00000095564	chromatin interactions
ENSG00000196176	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115570186	chr5:14870848-14870849	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552228196	chr5:14870857-14870858	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570755325	chr5:14870862-14870863	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs545521089	chr5:14870868-14870869	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537789596	chr5:14870880-14870881	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs201429609	chr5:14870896-14870897	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs183925304	chr5:14870900-14870901	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188355066	chr5:14870919-14870920	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562926680	chr5:14871211-14871212	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs2270562	chr5:14871253-14871254	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs553674100	chr5:14871285-14871286	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs56196522	chr5:14871301-14871302	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs376323251	chr5:14871308-14871309	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181091976	chr5:14871314-14871315	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530229110	chr5:14871326-14871327	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540232490	chr5:14871368-14871369	Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558570226	chr5:14871404-14871405	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577083093	chr5:14871409-14871410	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs368765666	chr5:14871415-14871416	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs372407818	chr5:14871418-14871419	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375828518	chr5:14871432-14871433	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs367844255	chr5:14871441-14871442	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs544582199	chr5:14871446-14871447	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs373461922	chr5:14871451-14871452	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs377386565	chr5:14871491-14871492	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs146119298	chr5:14871523-14871524	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs199583793	chr5:14871530-14871531	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs121908409	chr5:14871543-14871544	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs121908410	chr5:14871544-14871545	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs373638143	chr5:14871545-14871546	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs377376997	chr5:14871557-14871558	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs78431233	chr5:14871560-14871561	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs375545596	chr5:14871571-14871572	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs376854122	chr5:14871575-14871576	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs371012506	chr5:14871586-14871587	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs370039792	chr5:14871605-14871606	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs139106733	chr5:14871621-14871622	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs530246274	chr5:14871808-14871809	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs531421951	chr5:14871826-14871827	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs542443399	chr5:14871842-14871843	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs560266035	chr5:14871845-14871846	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs527428283	chr5:14871889-14871890	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs548424566	chr5:14871920-14871921	Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs552191015	chr5:14872094-14872095	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs570469279	chr5:14872299-14872300	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs542053504	chr5:14872314-14872315	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs531584604	chr5:14872323-14872324	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs549825981	chr5:14872482-14872483	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
49	rs535274612	chr5:14872502-14872503	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs548077991	chr5:14872506-14872507	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Gastric cancer	17229543	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14868600-14871000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:14869000-14871000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:14869000-14871000	Enhancers	K562	blood
4	chr5:14869000-14871200	Flanking Active TSS	Dnd41	blood
5	chr5:14869000-14871200	Flanking Active TSS	Hela-S3	cervix
6	chr5:14869000-14871600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr5:14869200-14871200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
9	chr5:14869400-14873000	Active TSS	Aorta	Aorta
10	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
13	chr5:14869800-14871200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr5:14869800-14871200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr5:14869800-14871200	Flanking Active TSS	Liver	Liver
16	chr5:14869800-14871400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:14869800-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
19	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
21	chr5:14870000-14871200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:14870000-14871200	Active TSS	Fetal Heart	heart
23	chr5:14870000-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr5:14870000-14872000	Active TSS	Right Atrium	heart
25	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
27	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
28	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
30	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
31	chr5:14870200-14871000	Active TSS	Brain Germinal Matrix	brain
32	chr5:14870200-14871200	Flanking Active TSS	HUVEC	blood vessel
33	chr5:14870200-14871400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:14870200-14871600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:14870200-14871600	Active TSS	Brain Substantia Nigra	brain
36	chr5:14870200-14872600	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
39	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr5:14870200-14872800	Active TSS	NHLF	lung
42	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:14870200-14873000	Active TSS	Gastric	stomach
45	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
46	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
48	chr5:14870200-14873000	Active TSS	Osteobl	bone
49	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links