Variant report

Variant	nsv1002905
Chromosome Location	chr4:55093677-55115698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr4:55100490-55100615	K562	blood:	n/a	n/a
2	ATF3	chr4:55100452-55100660	K562	blood:	n/a	n/a
3	BACH1	chr4:55099526-55099761	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr4:55094167-55094610	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr4:55099087-55099255	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr4:55097967-55098088	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:55100122-55100782	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:55095937-55095992	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr4:55099347-55099844	GM12878	blood:	n/a	chr4:55099732-55099741
10	BHLHE40	chr4:55094369-55094387	K562	blood:	n/a	n/a
11	BHLHE40	chr4:55094188-55094532	GM12878	blood:	n/a	n/a
12	BHLHE40	chr4:55099496-55099828	GM12878	blood:	n/a	chr4:55099671-55099687 chr4:55099722-55099738
13	BRCA1	chr4:55099355-55099751	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr4:55100481-55100738	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr4:55094248-55094628	H1-hESC	embryonic stem cell:	n/a	n/a
16	CBX3	chr4:55100373-55100687	K562	blood:	n/a	n/a
17	CBX3	chr4:55099494-55099715	K562	blood:	n/a	n/a
18	CCNT2	chr4:55099506-55099845	K562	blood:	n/a	chr4:55099668-55099677
19	CEBPB	chr4:55095063-55095430	MCF-7	breast:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
20	CEBPB	chr4:55100000-55100772	Hela-S3	cervix:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
21	CEBPB	chr4:55095078-55095534	H1-hESC	embryonic stem cell:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
22	CEBPB	chr4:55100398-55100792	ECC-1	luminal epithelium:	n/a	n/a
23	CEBPB	chr4:55100349-55100816	MCF-7	breast:	n/a	n/a
24	CEBPB	chr4:55099848-55100798	K562	blood:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
25	CEBPB	chr4:55097371-55097549	HepG2	liver:	n/a	chr4:55097483-55097494
26	CEBPB	chr4:55099866-55100763	A549	lung:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
27	CEBPB	chr4:55100309-55100710	MCF-7	breast:	n/a	n/a
28	CEBPB	chr4:55094274-55095994	IMR90	lung:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
29	CEBPB	chr4:55100359-55100781	HepG2	liver:	n/a	n/a
30	CEBPB	chr4:55099798-55100197	MCF-7	breast:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
31	CEBPB	chr4:55099847-55100757	HepG2	liver:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
32	CEBPB	chr4:55095136-55095497	A549	lung:	n/a	chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
33	CEBPB	chr4:55100456-55100721	HepG2	liver:	n/a	n/a
34	CEBPB	chr4:55100422-55100762	A549	lung:	n/a	n/a
35	CEBPB	chr4:55095079-55095452	HepG2	liver:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
36	CEBPB	chr4:55097295-55097879	IMR90	lung:	n/a	chr4:55097483-55097494
37	CEBPB	chr4:55097419-55097618	H1-hESC	embryonic stem cell:	n/a	chr4:55097483-55097494
38	CEBPB	chr4:55099871-55100231	MCF-7	breast:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
39	CEBPB	chr4:55095090-55095443	A549	lung:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
40	CEBPB	chr4:55099545-55100791	H1-hESC	embryonic stem cell:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
41	CEBPB	chr4:55102485-55102857	IMR90	lung:	n/a	n/a
42	CEBPB	chr4:55099514-55100765	IMR90	lung:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
43	CEBPB	chr4:55100143-55100902	A549	lung:	n/a	n/a
44	CEBPB	chr4:55099915-55100768	HepG2	liver:	n/a	chr4:55100029-55100038 chr4:55100027-55100038
45	CEBPB	chr4:55095169-55095418	A549	lung:	n/a	chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
46	CEBPB	chr4:55094153-55094439	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr4:55095079-55095441	K562	blood:	n/a	chr4:55095112-55095120 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095257-55095266 chr4:55095255-55095268
48	CEBPB	chr4:55100370-55100694	K562	blood:	n/a	n/a
49	CEBPB	chr4:55100320-55100769	K562	blood:	n/a	n/a
50	CEBPB	chr4:55100206-55100917	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:55094580-55094630	GM12892	blood:	n/a
2	chr4:55094011-55094061	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:55094580-55094630	GM12892	blood:	n/a
4	chr4:55094011-55094061	HPAEpiC	pulmonary alveolar:	n/a
5	chr4:55099837-55099887	AG09319	gingival:	n/a
6	chr4:55095209-55095259	MCF-7	breast:	n/a
7	chr4:55093834-55093884	ovcar-3	ovarian:	n/a
8	chr4:55097476-55097526	MCF-7	breast:	n/a
9	chr4:55098483-55098533	HRE	kidney:	n/a
10	chr4:55095282-55095332	AG09319	gingival:	n/a
11	chr4:55100025-55100075	GM19239	blood:	n/a
12	chr4:55098359-55098409	NB4	blood:	n/a
13	chr4:55099058-55099108	MCF-7	breast:	n/a
14	chr4:55100995-55101045	T-47D	breast:	n/a
15	chr4:55100918-55100968	MCF10A-Er-Src	breast:	n/a
16	chr4:55099058-55099108	AG04450	lung:	fetal
17	chr4:55095444-55095494	HRCEpiC	kidney:	n/a
18	chr4:55097576-55097626	NHBE	bronchial:	n/a
19	chr4:55094337-55094387	PFSK-1	brain:	n/a
20	chr4:55095446-55095496	GM19239	blood:	n/a
21	chr4:55093834-55093884	HCM	heart:	n/a
22	chr4:55095261-55095311	NHDF-neo	bronchial:	n/a
23	chr4:55098130-55098180	SK-N-SH_RA	brain:	n/a
24	chr4:55094580-55094630	SK-N-MC	brain:	n/a
25	chr4:55094011-55094061	BE2_C	brain:	n/a
26	chr4:55093692-55093742	HCT-116	colon:	n/a
27	chr4:55094005-55094055	LNCaP	prostate:	n/a
28	chr4:55094005-55094055	SK-N-MC	brain:	n/a
29	chr4:55099511-55099561	ovcar-3	ovarian:	n/a
30	chr4:55096230-55096280	HCM	heart:	n/a
31	chr4:55096230-55096280	H1-hESC	embryonic stem cell:	embryo
32	chr4:55100918-55100968	HRE	kidney:	n/a
33	chr4:55094011-55094061	HCM	heart:	n/a
34	chr4:55098130-55098180	AG04449	skin:	fetal
35	chr4:55100025-55100075	LNCaP	prostate:	n/a
36	chr4:55097576-55097626	BE2_C	brain:	n/a
37	chr4:55095282-55095332	HCM	heart:	n/a
38	chr4:55093857-55093907	MCF10A-Er-Src	breast:	n/a
39	chr4:55093834-55093884	AG09319	gingival:	n/a
40	chr4:55099837-55099887	HUVEC	blood vessel:	n/a
41	chr4:55093692-55093742	Hepatocyte	liver:	n/a
42	chr4:55097576-55097626	GM19239	blood:	n/a
43	chr4:55098359-55098409	HNPCEpiC	eye:	n/a
44	chr4:55099511-55099561	H1-hESC	embryonic stem cell:	embryo
45	chr4:55100268-55100318	AG09309	skin:	n/a
46	chr4:55100995-55101045	NHDF-neo	bronchial:	n/a
47	chr4:55099837-55099887	AG04450	lung:	fetal
48	chr4:55096744-55096794	SAEC	small airway:	n/a
49	chr4:55093834-55093884	MCF-7	breast:	n/a
50	chr4:55096744-55096794	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:54487031..54487605-chr4:55099358..55100201,3	MCF-7	breast:
2	chr4:53881634..53882407-chr4:55093488..55094444,2	K562	blood:
3	chr4:53881755..53882893-chr4:55099401..55100106,3	K562	blood:
4	chr4:55094459..55096231-chr4:55096303..55097882,2	K562	blood:
5	chr4:54774768..54775400-chr4:55094512..55095178,2	MCF-7	breast:
6	chr4:54776244..54777147-chr4:55093912..55094622,2	MCF-7	breast:
7	chr4:54796225..54796841-chr4:55099144..55099669,2	K562	blood:
8	chr4:54179815..54180318-chr4:55099127..55100044,2	MCF-7	breast:
9	chr4:54774460..54775444-chr4:55099657..55101013,5	K562	blood:
10	chr4:54572570..54573189-chr4:55094002..55094798,2	MCF-7	breast:
11	chr4:53849487..53850046-chr4:55100113..55100951,2	MCF-7	breast:
12	chr4:54572370..54573128-chr4:55099581..55100333,2	MCF-7	breast:
13	chr4:54774553..54775416-chr4:55100492..55101249,2	MCF-7	breast:
14	chr4:53881814..53882461-chr4:55099539..55100545,3	MCF-7	breast:
15	chr4:53881829..53882444-chr4:55100138..55101053,2	K562	blood:
16	chr4:55094459..55096231-chr4:55096303..55097882,2	K562	blood:
17	chr4:53100125..53100934-chr4:55099670..55100577,2	K562	blood:
18	chr4:54774590..54775563-chr4:55093959..55094716,3	MCF-7	breast:
19	chr4:54774784..54775467-chr4:55099252..55100172,4	MCF-7	breast:
20	chr4:54774514..54775034-chr4:55093982..55094896,2	K562	blood:
21	chr4:54357356..54357868-chr4:55094218..55094869,2	K562	blood:
22	chr4:54795899..54796889-chr4:55098747..55099955,3	MCF-7	breast:

Variant related genes	Relation type
PDGFRA	TF binding region
PDGFRA	CpG island
ENSG00000134853	chromatin interactions

Extended variants
information (count: 857 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:857 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547815367	chr4:55093692-55093693	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs566417122	chr4:55093725-55093726	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs184018147	chr4:55093747-55093748	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs72250336	chr4:55093790-55093791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs10563643	chr4:55093793-55093794	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372826225	chr4:55093814-55093815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568731429	chr4:55093823-55093824	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs78893477	chr4:55093842-55093843	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs554353359	chr4:55093862-55093863	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs574504019	chr4:55093894-55093895	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs1800809	chr4:55093914-55093915	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs548092444	chr4:55093917-55093918	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369836744	chr4:55093954-55093955	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs6554162	chr4:55093955-55093956	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs186822840	chr4:55093965-55093966	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs563046124	chr4:55093977-55093978	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375635358	chr4:55093990-55093991	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs1800810	chr4:55094031-55094032	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542435184	chr4:55094034-55094035	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs189635697	chr4:55094036-55094037	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs527823237	chr4:55094062-55094063	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547431621	chr4:55094100-55094101	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs564141614	chr4:55094117-55094118	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532245460	chr4:55094128-55094129	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533858797	chr4:55094184-55094185	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552067951	chr4:55094210-55094211	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs577836120	chr4:55094246-55094247	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs140436230	chr4:55094349-55094350	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs537623897	chr4:55094371-55094372	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
30	rs548414107	chr4:55094413-55094414	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369874406	chr4:55094429-55094430	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375429022	chr4:55094465-55094466	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs1800813	chr4:55094467-55094468	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
34	rs1135534	chr4:55094515-55094516	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553758400	chr4:55094573-55094574	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs576938829	chr4:55094617-55094618	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs540105823	chr4:55094622-55094623	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1800812	chr4:55094629-55094630	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs182648386	chr4:55094728-55094729	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542046748	chr4:55094766-55094767	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187070094	chr4:55094770-55094771	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs148743874	chr4:55094779-55094780	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs572399352	chr4:55094837-55094838	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs375026944	chr4:55094868-55094869	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192856762	chr4:55094870-55094871	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs564104493	chr4:55094969-55094970	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs533140096	chr4:55095000-55095001	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370126649	chr4:55095020-55095021	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374801511	chr4:55095046-55095047	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs549792496	chr4:55095102-55095103	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Rhabdomyosarcoma	20807811	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1058 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55091000-55093800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:55091200-55094600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
3	chr4:55091200-55099000	Bivalent/Poised TSS	Fetal Kidney	kidney
4	chr4:55091400-55094600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:55091400-55094600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
6	chr4:55091400-55095000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
7	chr4:55091400-55095200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr4:55091400-55096600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
9	chr4:55091600-55093800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:55091600-55093800	Flanking Active TSS	Osteobl	bone
11	chr4:55091600-55094600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
12	chr4:55091600-55094800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr4:55091600-55095000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:55091800-55094600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr4:55091800-55094600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr4:55091800-55094600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:55091800-55094600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:55091800-55094600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:55091800-55094600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
20	chr4:55091800-55094800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
21	chr4:55091800-55095400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr4:55092000-55094400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
23	chr4:55092000-55094400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:55092000-55094600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:55092000-55094800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
26	chr4:55092000-55094800	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr4:55092000-55096800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:55092000-55100800	Active TSS	Aorta	Aorta
29	chr4:55092200-55093800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr4:55092200-55094200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:55092200-55094400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
32	chr4:55092200-55094400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr4:55092200-55094400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr4:55092200-55094400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr4:55092200-55094600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:55092200-55094600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:55092200-55094600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:55092200-55094600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
39	chr4:55092200-55094800	Flanking Active TSS	NHLF	lung
40	chr4:55092200-55096000	Flanking Active TSS	NH-A	brain
41	chr4:55092400-55094000	Bivalent/Poised TSS	Left Ventricle	heart
42	chr4:55092400-55094400	Flanking Active TSS	Liver	Liver
43	chr4:55092400-55094600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:55092400-55097800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr4:55092400-55100600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:55092600-55093800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
47	chr4:55092600-55094400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr4:55092600-55094400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr4:55092600-55094600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:55092600-55094600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood

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