Variant report

Variant	nsv822892
Chromosome Location	chr4:187640281-187653074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1423)
CpG islands
(count:1710)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1423 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:187644863-187645182	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:187649765-187650416	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:187646739-187648026	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:187647095-187647297	K562	blood:	n/a	n/a
5	ATF1	chr4:187648889-187649067	K562	blood:	n/a	n/a
6	ATF2	chr4:187647604-187648135	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:187647501-187648420	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr4:187647674-187648131	A549	lung:	n/a	chr4:187647896-187647906 chr4:187647898-187647906 chr4:187647899-187647906
9	ATF3	chr4:187647729-187648008	HepG2	liver:	n/a	chr4:187647896-187647906 chr4:187647898-187647906 chr4:187647899-187647906
10	ATF3	chr4:187647672-187648072	K562	blood:	n/a	chr4:187647896-187647906 chr4:187647898-187647906 chr4:187647899-187647906
11	BACH1	chr4:187646310-187647275	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr4:187647774-187648592	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr4:187644476-187645910	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr4:187647796-187647933	H1-hESC	embryonic stem cell:	n/a	chr4:187647828-187647841
15	BCL3	chr4:187647627-187648037	A549	lung:	n/a	chr4:187647828-187647841
16	BHLHE40	chr4:187647029-187647294	K562	blood:	n/a	n/a
17	BHLHE40	chr4:187645852-187645855	K562	blood:	n/a	n/a
18	BHLHE40	chr4:187644359-187645387	K562	blood:	n/a	chr4:187645099-187645115
19	BHLHE40	chr4:187644682-187645241	HepG2	liver:	n/a	chr4:187645099-187645115
20	BHLHE40	chr4:187647764-187647960	K562	blood:	n/a	chr4:187647826-187647842 chr4:187647825-187647841
21	BHLHE40	chr4:187647713-187648321	HepG2	liver:	n/a	chr4:187647826-187647842 chr4:187648032-187648048 chr4:187647969-187647985 chr4:187648024-187648040 chr4:187647825-187647841
22	BRCA1	chr4:187644336-187644523	HepG2	liver:	n/a	n/a
23	BRCA1	chr4:187647043-187647264	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr4:187645027-187645264	HepG2	liver:	n/a	n/a
25	BRCA1	chr4:187646945-187647573	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr4:187647758-187648016	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr4:187647807-187647917	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr4:187644900-187645100	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr4:187647801-187648265	HepG2	liver:	n/a	n/a
30	BRCA1	chr4:187645601-187645748	H1-hESC	embryonic stem cell:	n/a	n/a
31	CBX3	chr4:187641037-187641455	K562	blood:	n/a	n/a
32	CBX3	chr4:187640968-187642162	HCT-116	colon:	n/a	n/a
33	CBX3	chr4:187641002-187641456	K562	blood:	n/a	n/a
34	CBX3	chr4:187646561-187650600	HCT-116	colon:	n/a	n/a
35	CBX3	chr4:187647682-187647975	K562	blood:	n/a	n/a
36	CCNT2	chr4:187647653-187648304	K562	blood:	n/a	chr4:187647886-187647895
37	CCNT2	chr4:187644412-187645297	K562	blood:	n/a	n/a
38	CCNT2	chr4:187645583-187646001	K562	blood:	n/a	n/a
39	CEBPB	chr4:187641135-187641415	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr4:187644005-187644163	K562	blood:	n/a	n/a
41	CEBPB	chr4:187647539-187648057	HepG2	liver:	n/a	n/a
42	CEBPB	chr4:187644377-187644515	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr4:187645740-187645900	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr4:187647669-187648042	IMR90	lung:	n/a	n/a
45	CEBPB	chr4:187647770-187647979	K562	blood:	n/a	n/a
46	CEBPB	chr4:187647721-187648021	A549	lung:	n/a	n/a
47	CEBPB	chr4:187645011-187645472	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr4:187651846-187651868	K562	blood:	n/a	n/a
49	CEBPB	chr4:187649872-187650443	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr4:187647715-187647982	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1710 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187650301-187650351	LNCaP	prostate:	n/a
2	chr4:187647690-187647740	RPTEC	kidney:	n/a
3	chr4:187650301-187650351	LNCaP	prostate:	n/a
4	chr4:187647690-187647740	RPTEC	kidney:	n/a
5	chr4:187647395-187647445	HMEC	breast:	n/a
6	chr4:187645120-187645170	BJ	skin:	n/a
7	chr4:187646364-187646414	NHBE	bronchial:	n/a
8	chr4:187645059-187645109	HUVEC	blood vessel:	n/a
9	chr4:187645685-187645735	Caco-2	colon:	n/a
10	chr4:187646301-187646351	GM12892	blood:	n/a
11	chr4:187647690-187647740	HL-60	blood:	n/a
12	chr4:187647690-187647740	HRPEpiC	eye:	n/a
13	chr4:187645685-187645735	NB4	blood:	n/a
14	chr4:187647197-187647247	HEEpiC	esophagus:	n/a
15	chr4:187645144-187645194	U87	brain:	n/a
16	chr4:187648252-187648302	MCF10A-Er-Src	breast:	n/a
17	chr4:187644620-187644670	SAEC	small airway:	n/a
18	chr4:187645685-187645735	HRCEpiC	kidney:	n/a
19	chr4:187641867-187641917	HIPEpiC	eye:	n/a
20	chr4:187647402-187647452	HRPEpiC	eye:	n/a
21	chr4:187646446-187646496	NB4	blood:	n/a
22	chr4:187647402-187647452	AG10803	skin:	n/a
23	chr4:187647395-187647445	GM12878	blood:	n/a
24	chr4:187643243-187643293	GM12878	blood:	n/a
25	chr4:187646055-187646105	SK-N-MC	brain:	n/a
26	chr4:187647457-187647507	AG04450	lung:	fetal
27	chr4:187648358-187648408	GM12878	blood:	n/a
28	chr4:187647048-187647098	Caco-2	colon:	n/a
29	chr4:187647048-187647098	GM06990	blood:	n/a
30	chr4:187650301-187650351	HL-60	blood:	n/a
31	chr4:187647690-187647740	HCM	heart:	n/a
32	chr4:187646055-187646105	HRPEpiC	eye:	n/a
33	chr4:187645448-187645498	BE2_C	brain:	n/a
34	chr4:187646396-187646446	IMR90	lung:	fetal
35	chr4:187648252-187648302	HEEpiC	esophagus:	n/a
36	chr4:187645685-187645735	ovcar-3	ovarian:	n/a
37	chr4:187645120-187645170	NH-A	brain:	n/a
38	chr4:187648358-187648408	A549	lung:	n/a
39	chr4:187646446-187646496	HCM	heart:	n/a
40	chr4:187645120-187645170	IMR90	lung:	fetal
41	chr4:187645448-187645498	T-47D	breast:	n/a
42	chr4:187645144-187645194	BE2_C	brain:	n/a
43	chr4:187645144-187645194	HCF	heart:	n/a
44	chr4:187644739-187644789	ovcar-3	ovarian:	n/a
45	chr4:187647048-187647098	NHBE	bronchial:	n/a
46	chr4:187647395-187647445	HRE	kidney:	n/a
47	chr4:187645120-187645170	SKMC	muscle:	n/a
48	chr4:187645059-187645109	HL-60	blood:	n/a
49	chr4:187646446-187646496	SKMC	muscle:	n/a
50	chr4:187646929-187646979	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:187648033..187649855-chr4:187758632..187760466,2	MCF-7	breast:
2	chr4:187619254..187623290-chr4:187636723..187640845,3	MCF-7	breast:
3	chr4:187645076..187647185-chr4:187684123..187686273,3	K562	blood:
4	chr4:187641332..187643259-chr4:187644870..187646656,2	K562	blood:
5	chr4:187638279..187640138-chr4:187642183..187644541,2	K562	blood:
6	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
7	chr4:187645100..187646784-chr4:187678473..187680254,2	K562	blood:
8	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
9	chr4:187639865..187641843-chr4:187644309..187646405,2	MCF-7	breast:
10	chr4:187639395..187641125-chr4:187652205..187654706,2	K562	blood:
11	chr4:187590589..187591501-chr4:187640709..187641388,2	MCF-7	breast:
12	chr19:36036241..36036989-chr4:187647559..187648083,2	HCT-116	colon:
13	chr4:187651958..187654545-chr4:187671276..187673599,3	K562	blood:
14	chr4:187641131..187642832-chr4:187644855..187646370,2	K562	blood:
15	chr11:65082224..65082738-chr4:187647444..187648140,2	HCT-116	colon:
16	chr4:187651874..187654017-chr4:187676972..187679507,2	K562	blood:
17	chr4:187651958..187653758-chr4:187671404..187673599,2	K562	blood:
18	chr11:61582742..61583406-chr4:187646760..187647639,2	Hela-S3	cervix:
19	chr4:187642627..187645169-chr4:187647943..187651570,4	MCF-7	breast:
20	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
21	chr4:187632290..187634581-chr4:187642578..187644901,2	K562	blood:
22	chr4:187645367..187647070-chr4:188073656..188075512,2	K562	blood:
23	chr4:187652128..187654537-chr4:187654823..187656879,2	MCF-7	breast:
24	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
25	chr4:187648173..187650328-chr4:187707410..187709180,2	MCF-7	breast:
26	chr4:187639395..187641125-chr4:187652205..187654706,2	K562	blood:
27	chr4:187647979..187649715-chr4:187674594..187677277,2	K562	blood:
28	chr4:187645076..187647185-chr4:187684194..187686273,2	K562	blood:
29	chr14:24909091..24910881-chr4:187644537..187646251,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAT1	TF binding region
FAT1	CpG island
ENSG00000236144	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000105677	chromatin interactions
ENSG00000149798	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000083857	chromatin interactions

Extended variants
information (count: 485 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574023198	chr4:187640328-187640329	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541380876	chr4:187640353-187640354	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150100188	chr4:187640362-187640363	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75320418	chr4:187640378-187640379	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114333945	chr4:187640401-187640402	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182881986	chr4:187640442-187640443	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs530796190	chr4:187640444-187640445	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372695179	chr4:187640449-187640450	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145580306	chr4:187640456-187640457	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148455277	chr4:187640458-187640459	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531120828	chr4:187640478-187640479	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187220335	chr4:187640489-187640490	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562887212	chr4:187640498-187640499	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530201145	chr4:187640503-187640504	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs75898665	chr4:187640504-187640505	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs552165136	chr4:187640548-187640549	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144172554	chr4:187640562-187640563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34843603	chr4:187640563-187640564	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192149393	chr4:187640574-187640575	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34650260	chr4:187640620-187640621	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs532393679	chr4:187640625-187640626	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368824236	chr4:187640647-187640648	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs72716291	chr4:187640665-187640666	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111700516	chr4:187640708-187640709	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569131282	chr4:187640720-187640721	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188881556	chr4:187640764-187640765	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557057475	chr4:187640767-187640768	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs73017537	chr4:187640812-187640813	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs327102	chr4:187640836-187640837	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs192659728	chr4:187640844-187640845	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs184508999	chr4:187640845-187640846	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs545158861	chr4:187640857-187640858	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs558744065	chr4:187640869-187640870	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547015937	chr4:187640874-187640875	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541855125	chr4:187640927-187640928	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189827381	chr4:187641002-187641003	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560703430	chr4:187641014-187641015	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568167079	chr4:187641034-187641035	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs327103	chr4:187641096-187641097	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539949473	chr4:187641106-187641107	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs28619448	chr4:187641138-187641139	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181100501	chr4:187641145-187641146	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184207105	chr4:187641203-187641204	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369882949	chr4:187641248-187641249	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562702000	chr4:187641250-187641251	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76033294	chr4:187641261-187641262	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548505348	chr4:187641269-187641270	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369596937	chr4:187641306-187641307	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146520314	chr4:187641308-187641309	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs141068655	chr4:187641312-187641313	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	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
Oral squamous cell carcinoma	17134496	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
XY gonadal dysgenesis	20685758	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	20967226	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187626400-187643600	Weak transcription	Stomach Mucosa	stomach
2	chr4:187630400-187643600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:187630600-187641600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:187631000-187641200	Weak transcription	Fetal Kidney	kidney
5	chr4:187631000-187643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:187634800-187644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:187635400-187644200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187635600-187640800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:187635600-187643200	Weak transcription	Right Ventricle	heart
10	chr4:187635800-187643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:187637000-187641600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:187637400-187640800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:187637400-187641200	Weak transcription	Osteobl	bone
14	chr4:187637400-187641600	Weak transcription	NH-A	brain
15	chr4:187637400-187643000	Weak transcription	Aorta	Aorta
16	chr4:187637600-187643400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:187637800-187641400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:187638200-187641800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:187638200-187644200	Weak transcription	Pancreas	Pancrea
20	chr4:187639200-187641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:187639200-187642600	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:187639400-187643400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:187639600-187642600	Genic enhancers	NHEK	skin
24	chr4:187639800-187640400	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr4:187639800-187641000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:187639800-187641400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:187639800-187641600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:187640000-187640400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr4:187640000-187640400	ZNF genes & repeats	HSMM	muscle
30	chr4:187640000-187640400	ZNF genes & repeats	NHDF-Ad	bronchial
31	chr4:187640000-187640600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:187640000-187641200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:187640000-187642000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr4:187640200-187640400	Enhancers	Fetal Heart	heart
35	chr4:187640200-187640600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:187640200-187641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:187640400-187641000	Weak transcription	Fetal Heart	heart
38	chr4:187640400-187641400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr4:187640400-187643200	Weak transcription	HSMM	muscle
40	chr4:187640600-187641400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:187640600-187641600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:187640600-187642400	ZNF genes & repeats	A549	lung
43	chr4:187640800-187641200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr4:187640800-187641800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr4:187641000-187642000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:187641000-187642000	ZNF genes & repeats	Fetal Lung	lung
47	chr4:187641200-187641600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:187641200-187641800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:187641200-187642000	ZNF genes & repeats	Fetal Kidney	kidney
50	chr4:187641200-187642000	ZNF genes & repeats	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links