Variant report

Variant	esv3432093
Chromosome Location	chr1:47901465-47906063
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1055)
CpG islands
(count:1223)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:47902111-47902448	HepG2	liver:	n/a	n/a
2	ATF2	chr1:47902109-47902469	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:47902777-47902778	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:47903013-47903914	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr1:47902611-47902827	K562	blood:	n/a	n/a
6	BACH1	chr1:47903514-47903674	K562	blood:	n/a	n/a
7	BCLAF1	chr1:47902115-47902533	GM12878	blood:	n/a	n/a
8	BCLAF1	chr1:47903237-47903713	GM12878	blood:	n/a	chr1:47903239-47903252 chr1:47903318-47903327 chr1:47903323-47903332 chr1:47903319-47903332 chr1:47903320-47903329 chr1:47903312-47903325 chr1:47903692-47903701 chr1:47903589-47903602 chr1:47903587-47903600 chr1:47903546-47903559
9	BCLAF1	chr1:47902003-47902497	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:47902893-47903080	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:47903261-47903927	K562	blood:	n/a	chr1:47903787-47903803 chr1:47903642-47903658 chr1:47903790-47903806 chr1:47903312-47903328 chr1:47903784-47903800 chr1:47903755-47903771
12	BHLHE40	chr1:47903368-47903858	HepG2	liver:	n/a	chr1:47903787-47903803 chr1:47903642-47903658 chr1:47903790-47903806 chr1:47903784-47903800 chr1:47903755-47903771
13	BHLHE40	chr1:47902123-47902570	K562	blood:	n/a	n/a
14	BHLHE40	chr1:47903374-47903807	GM12878	blood:	n/a	chr1:47903787-47903803 chr1:47903642-47903658 chr1:47903790-47903806 chr1:47903784-47903800 chr1:47903755-47903771
15	BHLHE40	chr1:47902112-47902522	GM12878	blood:	n/a	n/a
16	BRCA1	chr1:47903768-47903788	GM12878	blood:	n/a	n/a
17	BRCA1	chr1:47903376-47903664	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr1:47902199-47902399	HepG2	liver:	n/a	n/a
19	BRCA1	chr1:47902248-47902389	GM12878	blood:	n/a	n/a
20	CBX3	chr1:47903048-47903869	K562	blood:	n/a	n/a
21	CBX3	chr1:47901694-47902813	K562	blood:	n/a	n/a
22	CCNT2	chr1:47902133-47904058	K562	blood:	n/a	chr1:47903693-47903702
23	CCNT2	chr1:47904697-47904868	K562	blood:	n/a	n/a
24	CEBPB	chr1:47902317-47902704	K562	blood:	n/a	n/a
25	CEBPB	chr1:47903228-47903271	K562	blood:	n/a	n/a
26	CEBPB	chr1:47902116-47903658	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr1:47902095-47902750	K562	blood:	n/a	n/a
28	CEBPB	chr1:47902224-47903081	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:47902207-47902594	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr1:47902349-47902651	K562	blood:	n/a	n/a
31	CEBPB	chr1:47902256-47902653	HepG2	liver:	n/a	n/a
32	CEBPB	chr1:47902188-47902711	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:47902122-47902800	A549	lung:	n/a	n/a
34	CEBPB	chr1:47902410-47902552	HepG2	liver:	n/a	n/a
35	CEBPB	chr1:47902306-47902745	MCF-7	breast:	n/a	n/a
36	CEBPB	chr1:47902326-47902710	A549	lung:	n/a	n/a
37	CEBPB	chr1:47902281-47902686	HepG2	liver:	n/a	n/a
38	CEBPD	chr1:47903125-47903395	HepG2	liver:	n/a	n/a
39	CEBPD	chr1:47903529-47903858	HepG2	liver:	n/a	n/a
40	CHD1	chr1:47901303-47901478	GM12878	blood:	n/a	n/a
41	CHD1	chr1:47902881-47903637	GM12878	blood:	n/a	chr1:47903380-47903390
42	CHD1	chr1:47902113-47902529	GM12878	blood:	n/a	n/a
43	CHD1	chr1:47902593-47902789	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr1:47903471-47903694	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr1:47904881-47904926	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr1:47902174-47903867	Hela-S3	cervix:	n/a	chr1:47903702-47903712 chr1:47903380-47903390
47	CHD2	chr1:47903093-47903237	HepG2	liver:	n/a	n/a
48	CHD2	chr1:47902149-47902642	K562	blood:	n/a	n/a
49	CHD2	chr1:47902069-47902722	GM12878	blood:	n/a	n/a
50	CHD2	chr1:47903434-47903686	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47905517-47905567	AG10803	skin:	n/a
2	chr1:47903385-47903435	HEEpiC	esophagus:	n/a
3	chr1:47905438-47905488	HRPEpiC	eye:	n/a
4	chr1:47905517-47905567	AG10803	skin:	n/a
5	chr1:47903385-47903435	HEEpiC	esophagus:	n/a
6	chr1:47905438-47905488	HRPEpiC	eye:	n/a
7	chr1:47901721-47901771	MCF10A-Er-Src	breast:	n/a
8	chr1:47902371-47902421	K562	blood:	n/a
9	chr1:47902269-47902319	NT2-D1	testis:	n/a
10	chr1:47905517-47905567	BE2_C	brain:	n/a
11	chr1:47901632-47901682	NB4	blood:	n/a
12	chr1:47902833-47902883	HIPEpiC	eye:	n/a
13	chr1:47903385-47903435	HAEpiC	amniotic membrane:	n/a
14	chr1:47903371-47903421	HIPEpiC	eye:	n/a
15	chr1:47905438-47905488	GM06990	blood:	n/a
16	chr1:47904465-47904515	HepG2	liver:	n/a
17	chr1:47905067-47905117	Jurkat	blood:	n/a
18	chr1:47902269-47902319	GM06990	blood:	n/a
19	chr1:47902085-47902135	HAEpiC	amniotic membrane:	n/a
20	chr1:47905517-47905567	A549	lung:	n/a
21	chr1:47904465-47904515	U87	brain:	n/a
22	chr1:47904465-47904515	ECC-1	luminal epithelium:	n/a
23	chr1:47902833-47902883	IMR90	lung:	fetal
24	chr1:47902085-47902135	MCF10A-Er-Src	breast:	n/a
25	chr1:47902085-47902135	HCF	heart:	n/a
26	chr1:47903450-47903500	H1-hESC	embryonic stem cell:	embryo
27	chr1:47902310-47902360	HRCEpiC	kidney:	n/a
28	chr1:47902371-47902421	AoSMC	blood vessel:	n/a
29	chr1:47903380-47903430	AoSMC	blood vessel:	n/a
30	chr1:47901721-47901771	HIPEpiC	eye:	n/a
31	chr1:47902371-47902421	IMR90	lung:	fetal
32	chr1:47903801-47903851	PFSK-1	brain:	n/a
33	chr1:47901555-47901605	NHBE	bronchial:	n/a
34	chr1:47901632-47901682	NH-A	brain:	n/a
35	chr1:47902275-47902325	SK-N-MC	brain:	n/a
36	chr1:47902310-47902360	ECC-1	luminal epithelium:	n/a
37	chr1:47902275-47902325	RPTEC	kidney:	n/a
38	chr1:47902846-47902896	ovcar-3	ovarian:	n/a
39	chr1:47904465-47904515	GM06990	blood:	n/a
40	chr1:47902371-47902421	AG09309	skin:	n/a
41	chr1:47905517-47905567	AG04449	skin:	fetal
42	chr1:47901555-47901605	HCF	heart:	n/a
43	chr1:47903380-47903430	GM06990	blood:	n/a
44	chr1:47901721-47901771	NH-A	brain:	n/a
45	chr1:47902085-47902135	CMK	blood:	n/a
46	chr1:47903385-47903435	HIPEpiC	eye:	n/a
47	chr1:47901555-47901605	HMEC	breast:	n/a
48	chr1:47905067-47905117	SAEC	small airway:	n/a
49	chr1:47905517-47905567	HEK293	kidney:	embryo
50	chr1:47904171-47904221	HNPCEpiC	eye:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:47857694..47860292-chr1:47903399..47906596,3	K562	blood:
2	chr1:47902934..47903670-chr1:47913431..47914329,2	K562	blood:
3	chr1:47894501..47897089-chr1:47902727..47904976,2	MCF-7	breast:
4	chr1:47904811..47906452-chr1:47922256..47924549,2	K562	blood:
5	chr1:47901790..47903824-chr1:48190200..48191775,2	K562	blood:
6	chr1:47903771..47906551-chr1:48119695..48121666,2	K562	blood:
7	chr1:47902027..47902996-chr1:47935255..47935856,2	K562	blood:
8	chr1:47902132..47902815-chr1:48175858..48176824,3	MCF-7	breast:
9	chr1:47905852..47907555-chr1:47959447..47961645,2	K562	blood:
10	chr1:47903377..47904143-chr1:48204375..48204941,2	K562	blood:
11	chr1:47903242..47903875-chr1:48191604..48192572,3	K562	blood:
12	chr1:47902862..47904142-chr1:48175786..48176848,4	K562	blood:
13	chr1:47901774..47903783-chr1:47905502..47907193,2	MCF-7	breast:
14	chr1:47905815..47907514-chr1:48048490..48050310,2	K562	blood:
15	chr1:47901999..47903599-chr1:48174794..48176429,2	MCF-7	breast:
16	chr1:47903723..47905312-chr1:48168980..48171087,2	K562	blood:
17	chr1:47901842..47902786-chr1:48175848..48176467,3	K562	blood:
18	chr1:47902573..47903219-chr14:100274224..100274724,2	Hela-S3	cervix:
19	chr1:47901811..47902631-chr1:47910399..47911268,2	K562	blood:
20	chr1:47903415..47904094-chr1:48175725..48176734,4	MCF-7	breast:
21	chr1:47903024..47904874-chr1:47914470..47916409,2	K562	blood:
22	chr1:47901774..47903783-chr1:47905502..47907193,2	MCF-7	breast:
23	chr1:47902477..47903371-chr9:131218074..131218707,2	Hela-S3	cervix:
24	chr1:8938373..8938983-chr1:47903127..47904074,2	HCT-116	colon:
25	chr1:47901910..47902768-chr1:48089857..48090558,2	K562	blood:
26	chr1:47896953..47898779-chr1:47905592..47907484,2	K562	blood:
27	chr1:47902221..47904815-chr1:47929260..47931018,2	K562	blood:
28	chr1:47902455..47903363-chr10:89577216..89577997,2	Hela-S3	cervix:
29	chr1:47902492..47903033-chr5:172194621..172195178,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
FOXD2-AS1	TF binding region
FOXD2	TF binding region
FOXD2-AS1	CpG island
FOXD2	CpG island
ENSG00000138138	chromatin interactions
ENSG00000230679	chromatin interactions
ENSG00000074800	chromatin interactions
ENSG00000136811	chromatin interactions
ENSG00000223820	chromatin interactions

Extended variants
information (count: 156 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:156 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574718509	chr1:47901507-47901508	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs182843031	chr1:47901517-47901518	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs539274401	chr1:47901518-47901519	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs371441861	chr1:47901543-47901544	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs188624852	chr1:47901547-47901548	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs144094926	chr1:47901556-47901557	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs545775458	chr1:47901575-47901576	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs41290150	chr1:47901586-47901587	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
9	rs6691723	chr1:47901588-47901589	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs537973306	chr1:47901674-47901675	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs146529604	chr1:47901687-47901688	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs141097619	chr1:47901721-47901722	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs529465934	chr1:47901722-47901723	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs368460738	chr1:47901735-47901736	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs560001456	chr1:47901829-47901830	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185308544	chr1:47901835-47901836	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs78418970	chr1:47901836-47901837	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559133510	chr1:47901957-47901958	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs145652402	chr1:47901969-47901970	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs562183264	chr1:47901975-47901976	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188675772	chr1:47902028-47902029	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs74074271	chr1:47902030-47902031	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549521300	chr1:47902088-47902089	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs529356835	chr1:47902093-47902094	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs145163712	chr1:47902136-47902137	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs542054362	chr1:47902170-47902171	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs149168497	chr1:47902171-47902172	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs535655829	chr1:47902214-47902215	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554050642	chr1:47902228-47902229	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs2622917	chr1:47902286-47902287	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs539382438	chr1:47902287-47902288	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs377554465	chr1:47902291-47902292	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
33	rs41290152	chr1:47902319-47902320	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
34	rs192572116	chr1:47902355-47902356	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
35	rs183582883	chr1:47902376-47902377	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
36	rs573852930	chr1:47902382-47902383	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs576732533	chr1:47902394-47902395	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs188255170	chr1:47902428-47902429	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs373856551	chr1:47902462-47902463	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs533655445	chr1:47902468-47902469	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs545410276	chr1:47902500-47902501	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs148352222	chr1:47902545-47902546	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs143263465	chr1:47902567-47902568	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs549459855	chr1:47902604-47902605	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs567752860	chr1:47902671-47902672	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs77279256	chr1:47902672-47902673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs527634936	chr1:47902712-47902713	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs547550825	chr1:47902717-47902718	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs181182968	chr1:47902770-47902771	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs3738316	chr1:47902817-47902818	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47894400-47901600	Weak transcription	HepG2	liver
2	chr1:47897000-47901600	Weak transcription	A549	lung
3	chr1:47898800-47901600	Weak transcription	K562	blood
4	chr1:47898800-47902000	Weak transcription	HSMM	muscle
5	chr1:47898800-47902000	Weak transcription	HSMMtube	muscle
6	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:47899200-47901800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:47899200-47902200	Weak transcription	Gastric	stomach
9	chr1:47899400-47901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:47899400-47901600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:47899800-47901800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:47900000-47902000	Enhancers	Aorta	Aorta
13	chr1:47900400-47901600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:47900400-47901600	Weak transcription	Liver	Liver
15	chr1:47900400-47901800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:47900400-47901800	Enhancers	HMEC	breast
17	chr1:47900400-47902000	Active TSS	Colonic Mucosa	Colon
18	chr1:47900400-47902200	Weak transcription	Lung	lung
19	chr1:47900400-47902200	Weak transcription	Pancreas	Pancrea
20	chr1:47900400-47902200	Weak transcription	Right Atrium	heart
21	chr1:47900600-47901800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:47900600-47902000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:47900600-47902000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:47900800-47901800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:47900800-47902000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:47900800-47902000	Bivalent Enhancer	NHEK	skin
27	chr1:47900800-47902000	Weak transcription	NHLF	lung
28	chr1:47901000-47901600	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr1:47901200-47901600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr1:47901200-47902000	Transcr. at gene 5' and 3'	Dnd41	blood
31	chr1:47901400-47901600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
32	chr1:47901400-47901600	Enhancers	GM12878-XiMat	blood
33	chr1:47901400-47901800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:47901400-47901800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:47901400-47901800	Bivalent Enhancer	Colon Smooth Muscle	Colon
36	chr1:47901400-47901800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
37	chr1:47901400-47902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:47901400-47902200	Enhancers	Spleen	Spleen
39	chr1:47901400-47902200	Flanking Active TSS	Hela-S3	cervix
40	chr1:47901400-47902400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr1:47901600-47901800	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:47901600-47901800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:47901600-47901800	Enhancers	Liver	Liver
46	chr1:47901600-47901800	Enhancers	A549	lung
47	chr1:47901600-47901800	Enhancers	K562	blood
48	chr1:47901600-47902000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr1:47901600-47902000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:47901600-47902000	Enhancers	Primary T helper cells PMA-I stimulated	--

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