Variant report

Variant	esv3406880
Chromosome Location	chr1:47901890-47905238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1023)
CpG islands
(count:916)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1023 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	chr1:47903514-47903674	K562	blood:	n/a	n/a
4	BACH1	chr1:47902611-47902827	K562	blood:	n/a	n/a
5	BACH1	chr1:47902777-47902778	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:47903013-47903914	H1-hESC	embryonic stem cell:	n/a	n/a
7	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
8	BCLAF1	chr1:47902115-47902533	GM12878	blood:	n/a	n/a
9	BCLAF1	chr1:47902003-47902497	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:47903368-47903858	HepG2	liver:	n/a	chr1:47903787-47903803 chr1:47903642-47903658 chr1:47903790-47903806 chr1:47903784-47903800 chr1:47903755-47903771
11	BHLHE40	chr1:47902112-47902522	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:47903374-47903807	GM12878	blood:	n/a	chr1:47903787-47903803 chr1:47903642-47903658 chr1:47903790-47903806 chr1:47903784-47903800 chr1:47903755-47903771
13	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
14	BHLHE40	chr1:47902893-47903080	GM12878	blood:	n/a	n/a
15	BHLHE40	chr1:47902123-47902570	K562	blood:	n/a	n/a
16	BRCA1	chr1:47902199-47902399	HepG2	liver:	n/a	n/a
17	BRCA1	chr1:47903376-47903664	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr1:47902248-47902389	GM12878	blood:	n/a	n/a
19	BRCA1	chr1:47903768-47903788	GM12878	blood:	n/a	n/a
20	CBX3	chr1:47901694-47902813	K562	blood:	n/a	n/a
21	CBX3	chr1:47903048-47903869	K562	blood:	n/a	n/a
22	CCNT2	chr1:47904697-47904868	K562	blood:	n/a	n/a
23	CCNT2	chr1:47902133-47904058	K562	blood:	n/a	chr1:47903693-47903702
24	CEBPB	chr1:47902122-47902800	A549	lung:	n/a	n/a
25	CEBPB	chr1:47902256-47902653	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:47902349-47902651	K562	blood:	n/a	n/a
27	CEBPB	chr1:47902281-47902686	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:47902224-47903081	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:47902410-47902552	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:47902326-47902710	A549	lung:	n/a	n/a
31	CEBPB	chr1:47903228-47903271	K562	blood:	n/a	n/a
32	CEBPB	chr1:47902116-47903658	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr1:47902207-47902594	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr1:47902317-47902704	K562	blood:	n/a	n/a
35	CEBPB	chr1:47902188-47902711	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:47902095-47902750	K562	blood:	n/a	n/a
37	CEBPB	chr1:47902306-47902745	MCF-7	breast:	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	chr1:47902881-47903637	GM12878	blood:	n/a	chr1:47903380-47903390
41	CHD1	chr1:47902593-47902789	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD1	chr1:47902113-47902529	GM12878	blood:	n/a	n/a
43	CHD1	chr1:47904881-47904926	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr1:47903471-47903694	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr1:47903100-47903735	K562	blood:	n/a	chr1:47903702-47903712 chr1:47903380-47903390
46	CHD2	chr1:47902069-47902722	GM12878	blood:	n/a	n/a
47	CHD2	chr1:47902244-47902423	HepG2	liver:	n/a	n/a
48	CHD2	chr1:47902149-47902642	K562	blood:	n/a	n/a
49	CHD2	chr1:47903369-47903886	GM12878	blood:	n/a	chr1:47903702-47903712 chr1:47903380-47903390
50	CHD2	chr1:47902174-47903867	Hela-S3	cervix:	n/a	chr1:47903702-47903712 chr1:47903380-47903390

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:47902833-47902883	ProgFib	skin:	n/a
2	chr1:47902833-47902883	ProgFib	skin:	n/a
3	chr1:47902371-47902421	A549	lung:	n/a
4	chr1:47903371-47903421	HRE	kidney:	n/a
5	chr1:47902846-47902896	Jurkat	blood:	n/a
6	chr1:47902833-47902883	BE2_C	brain:	n/a
7	chr1:47902269-47902319	A549	lung:	n/a
8	chr1:47902846-47902896	AG04449	skin:	fetal
9	chr1:47903380-47903430	RPTEC	kidney:	n/a
10	chr1:47902846-47902896	HAEpiC	amniotic membrane:	n/a
11	chr1:47902371-47902421	HRE	kidney:	n/a
12	chr1:47902846-47902896	PrEC	prostate:	n/a
13	chr1:47903371-47903421	ProgFib	skin:	n/a
14	chr1:47903380-47903430	PrEC	prostate:	n/a
15	chr1:47904465-47904515	ovcar-3	ovarian:	n/a
16	chr1:47903385-47903435	BE2_C	brain:	n/a
17	chr1:47902275-47902325	HEK293	kidney:	embryo
18	chr1:47903380-47903430	K562	blood:	n/a
19	chr1:47903380-47903430	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:47902846-47902896	MCF10A-Er-Src	breast:	n/a
21	chr1:47904465-47904515	SK-N-SH_RA	brain:	n/a
22	chr1:47905067-47905117	HNPCEpiC	eye:	n/a
23	chr1:47902310-47902360	MCF-7	breast:	n/a
24	chr1:47902085-47902135	Jurkat	blood:	n/a
25	chr1:47904171-47904221	NHDF-neo	bronchial:	n/a
26	chr1:47902833-47902883	SK-N-MC	brain:	n/a
27	chr1:47902085-47902135	RPTEC	kidney:	n/a
28	chr1:47903380-47903430	HL-60	blood:	n/a
29	chr1:47905067-47905117	HIPEpiC	eye:	n/a
30	chr1:47904171-47904221	MCF-7	breast:	n/a
31	chr1:47903801-47903851	CMK	blood:	n/a
32	chr1:47904171-47904221	Hela-S3	cervix:	n/a
33	chr1:47902833-47902883	BJ	skin:	n/a
34	chr1:47903380-47903430	LNCaP	prostate:	n/a
35	chr1:47903450-47903500	GM19239	blood:	n/a
36	chr1:47903385-47903435	HCF	heart:	n/a
37	chr1:47902833-47902883	PFSK-1	brain:	n/a
38	chr1:47902275-47902325	HMEC	breast:	n/a
39	chr1:47904171-47904221	HRCEpiC	kidney:	n/a
40	chr1:47902846-47902896	Caco-2	colon:	n/a
41	chr1:47903450-47903500	HCF	heart:	n/a
42	chr1:47903385-47903435	AG09309	skin:	n/a
43	chr1:47902846-47902896	T-47D	breast:	n/a
44	chr1:47902269-47902319	Hepatocyte	liver:	n/a
45	chr1:47902371-47902421	MCF10A-Er-Src	breast:	n/a
46	chr1:47903801-47903851	AG04450	lung:	fetal
47	chr1:47904465-47904515	SK-N-MC	brain:	n/a
48	chr1:47902371-47902421	AG09309	skin:	n/a
49	chr1:47902846-47902896	BJ	skin:	n/a
50	chr1:47902085-47902135	H1-hESC	embryonic stem cell:	embryo

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

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

No data

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

Extended variants
information (count: 101 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	rs12141529	chr1:47902886-47902887	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569586377	chr1:47902910-47902911	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)	Overlapped CNVs	n/a
36	rs536655123	chr1:47902952-47902953	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)	Overlapped CNVs	n/a
37	rs554982185	chr1:47902978-47902979	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)	Overlapped CNVs	n/a
38	rs576369271	chr1:47902986-47902987	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)	Overlapped CNVs	n/a
39	rs542164844	chr1:47903013-47903014	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs573398496	chr1:47903021-47903022	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs540754328	chr1:47903028-47903029	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs3738315	chr1:47903063-47903064	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs578120814	chr1:47903069-47903070	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs545636704	chr1:47903079-47903080	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs372004434	chr1:47903219-47903220	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs563836520	chr1:47903238-47903239	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs368718473	chr1:47903261-47903262	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs543041666	chr1:47903267-47903268	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs61784812	chr1:47903287-47903288	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs561297507	chr1:47903310-47903311	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	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:537 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47898800-47902000	Weak transcription	HSMM	muscle
2	chr1:47898800-47902000	Weak transcription	HSMMtube	muscle
3	chr1:47899000-47904400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr1:47899200-47902200	Weak transcription	Gastric	stomach
5	chr1:47900000-47902000	Enhancers	Aorta	Aorta
6	chr1:47900400-47902000	Active TSS	Colonic Mucosa	Colon
7	chr1:47900400-47902200	Weak transcription	Lung	lung
8	chr1:47900400-47902200	Weak transcription	Pancreas	Pancrea
9	chr1:47900400-47902200	Weak transcription	Right Atrium	heart
10	chr1:47900600-47902000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:47900600-47902000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:47900800-47902000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:47900800-47902000	Bivalent Enhancer	NHEK	skin
14	chr1:47900800-47902000	Weak transcription	NHLF	lung
15	chr1:47901200-47902000	Transcr. at gene 5' and 3'	Dnd41	blood
16	chr1:47901400-47902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:47901400-47902200	Enhancers	Spleen	Spleen
18	chr1:47901400-47902200	Flanking Active TSS	Hela-S3	cervix
19	chr1:47901400-47902400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr1:47901400-47902800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr1:47901400-47908000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
22	chr1:47901600-47902000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr1:47901600-47902000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:47901600-47902000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr1:47901600-47902000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:47901600-47902000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
27	chr1:47901600-47902200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr1:47901600-47902200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:47901600-47902200	Flanking Active TSS	HepG2	liver
30	chr1:47901600-47902600	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:47901600-47902800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:47901600-47902800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
33	chr1:47901800-47902000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr1:47901800-47902000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr1:47901800-47902000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:47901800-47902000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr1:47901800-47902000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:47901800-47902000	Enhancers	Adipose Nuclei	Adipose
39	chr1:47901800-47902000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:47901800-47902000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr1:47901800-47902000	Bivalent Enhancer	Fetal Thymus	thymus
42	chr1:47901800-47902000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
43	chr1:47901800-47902000	Bivalent Enhancer	Thymus	Thymus
44	chr1:47901800-47902000	Flanking Active TSS	A549	lung
45	chr1:47901800-47902000	Enhancers	HUVEC	blood vessel
46	chr1:47901800-47902200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:47901800-47902200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr1:47901800-47902200	Bivalent Enhancer	Primary T cells from cord blood	blood
49	chr1:47901800-47902200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr1:47901800-47902200	Enhancers	Primary T helper cells fromperipheralblood	blood

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