Variant report

Variant	esv3584805
Chromosome Location	chr4:69255070-69505115
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1209)
CpG islands
(count:610)
Chromatin interactive
region (count:23)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1209 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:69386831-69387059	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:69479543-69479775	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:69364158-69364549	HepG2	liver:	n/a	n/a
4	ARID3A	chr4:69464978-69465269	HepG2	liver:	n/a	n/a
5	ARID3A	chr4:69489457-69489609	HepG2	liver:	n/a	n/a
6	ATF2	chr4:69273374-69273928	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr4:69272567-69273233	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr4:69269850-69270608	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr4:69274062-69274402	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr4:69269806-69270384	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr4:69274713-69275097	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr4:69275508-69277104	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr4:69271320-69273979	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr4:69271370-69272360	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:69316907-69317183	H1-hESC	embryonic stem cell:	n/a	chr4:69317106-69317120
16	BACH1	chr4:69318318-69318341	H1-hESC	embryonic stem cell:	n/a	n/a
17	BATF	chr4:69441350-69441539	GM12878	blood:	n/a	n/a
18	BATF	chr4:69419767-69419937	GM12878	blood:	n/a	n/a
19	BATF	chr4:69441348-69441590	GM12878	blood:	n/a	n/a
20	BATF	chr4:69364212-69364472	GM12878	blood:	n/a	n/a
21	BCL11A	chr4:69273602-69273847	H1-hESC	embryonic stem cell:	n/a	n/a
22	BCL11A	chr4:69419791-69419969	GM12878	blood:	n/a	n/a
23	BCL11A	chr4:69275877-69276040	H1-hESC	embryonic stem cell:	n/a	n/a
24	BHLHE40	chr4:69364150-69364589	GM12878	blood:	n/a	n/a
25	BHLHE40	chr4:69435323-69435604	K562	blood:	n/a	n/a
26	BHLHE40	chr4:69305163-69305286	GM12878	blood:	n/a	n/a
27	BRCA1	chr4:69272255-69272927	H1-hESC	embryonic stem cell:	n/a	n/a
28	CCNT2	chr4:69328625-69328750	K562	blood:	n/a	n/a
29	CEBPB	chr4:69300055-69300288	A549	lung:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
30	CEBPB	chr4:69278558-69278870	K562	blood:	n/a	n/a
31	CEBPB	chr4:69431039-69431053	HepG2	liver:	n/a	chr4:69431039-69431050 chr4:69431041-69431050
32	CEBPB	chr4:69279178-69279415	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr4:69321591-69322194	MCF-7	breast:	n/a	n/a
34	CEBPB	chr4:69277211-69277380	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr4:69279112-69279415	K562	blood:	n/a	n/a
36	CEBPB	chr4:69312976-69313282	MCF-7	breast:	n/a	n/a
37	CEBPB	chr4:69463247-69463520	HepG2	liver:	n/a	n/a
38	CEBPB	chr4:69471903-69472154	HepG2	liver:	n/a	n/a
39	CEBPB	chr4:69447506-69447748	A549	lung:	n/a	n/a
40	CEBPB	chr4:69271962-69272301	K562	blood:	n/a	n/a
41	CEBPB	chr4:69300028-69300381	IMR90	lung:	n/a	chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300190-69300199 chr4:69300188-69300201 chr4:69300188-69300199 chr4:69300190-69300199 chr4:69300190-69300201 chr4:69300190-69300199 chr4:69300188-69300201
42	CEBPB	chr4:69278653-69278888	HepG2	liver:	n/a	n/a
43	CEBPB	chr4:69327525-69327817	MCF-7	breast:	n/a	n/a
44	CEBPB	chr4:69271428-69272246	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr4:69447436-69447754	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr4:69279172-69279414	K562	blood:	n/a	n/a
47	CEBPB	chr4:69273497-69273975	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr4:69482880-69482916	A549	lung:	n/a	n/a
49	CEBPB	chr4:69266996-69267452	IMR90	lung:	n/a	n/a
50	CEBPB	chr4:69447453-69447718	K562	blood:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69381368-69381418	HEK293	kidney:	embryo
2	chr4:69340916-69340966	K562	blood:	n/a
3	chr4:69434475-69434525	ECC-1	luminal epithelium:	n/a
4	chr4:69435601-69435651	SK-N-SH	brain:	n/a
5	chr4:69312104-69312154	PFSK-1	brain:	n/a
6	chr4:69381368-69381418	NT2-D1	testis:	n/a
7	chr4:69434475-69434525	HRCEpiC	kidney:	n/a
8	chr4:69340916-69340966	HUVEC	blood vessel:	n/a
9	chr4:69435601-69435651	PrEC	prostate:	n/a
10	chr4:69355121-69355171	SK-N-MC	brain:	n/a
11	chr4:69312104-69312154	HEEpiC	esophagus:	n/a
12	chr4:69312104-69312154	ovcar-3	ovarian:	n/a
13	chr4:69355121-69355171	H1-hESC	embryonic stem cell:	embryo
14	chr4:69381368-69381418	Jurkat	blood:	n/a
15	chr4:69313197-69313247	HCF	heart:	n/a
16	chr4:69435601-69435651	ECC-1	luminal epithelium:	n/a
17	chr4:69340916-69340966	Jurkat	blood:	n/a
18	chr4:69355121-69355171	HCF	heart:	n/a
19	chr4:69340916-69340966	SK-N-SH_RA	brain:	n/a
20	chr4:69381368-69381418	GM12878	blood:	n/a
21	chr4:69435601-69435651	GM12891	blood:	n/a
22	chr4:69381368-69381418	Hela-S3	cervix:	n/a
23	chr4:69434475-69434525	A549	lung:	n/a
24	chr4:69340916-69340966	ECC-1	luminal epithelium:	n/a
25	chr4:69312514-69312564	HL-60	blood:	n/a
26	chr4:69435593-69435643	Hepatocyte	liver:	n/a
27	chr4:69434475-69434525	BJ	skin:	n/a
28	chr4:69381368-69381418	Hepatocyte	liver:	n/a
29	chr4:69313197-69313247	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:69435593-69435643	NT2-D1	testis:	n/a
31	chr4:69435250-69435300	LNCaP	prostate:	n/a
32	chr4:69355121-69355171	MCF10A-Er-Src	breast:	n/a
33	chr4:69312514-69312564	BJ	skin:	n/a
34	chr4:69435601-69435651	AG10803	skin:	n/a
35	chr4:69355121-69355171	K562	blood:	n/a
36	chr4:69434475-69434525	NHBE	bronchial:	n/a
37	chr4:69435250-69435300	AG09319	gingival:	n/a
38	chr4:69312104-69312154	K562	blood:	n/a
39	chr4:69340916-69340966	NH-A	brain:	n/a
40	chr4:69312514-69312564	HEEpiC	esophagus:	n/a
41	chr4:69340916-69340966	CMK	blood:	n/a
42	chr4:69435250-69435300	AG04450	lung:	fetal
43	chr4:69435601-69435651	HUVEC	blood vessel:	n/a
44	chr4:69435250-69435300	RPTEC	kidney:	n/a
45	chr4:69313197-69313247	AG09309	skin:	n/a
46	chr4:69355121-69355171	HCPEpiC	choroid plexus:	n/a
47	chr4:69312514-69312564	HIPEpiC	eye:	n/a
48	chr4:69340916-69340966	AG10803	skin:	n/a
49	chr4:69313197-69313247	CMK	blood:	n/a
50	chr4:69355121-69355171	HRCEpiC	kidney:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:69375140..69375898-chr4:69492301..69492816,2	MCF-7	breast:
2	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
3	chr4:68794156..68795825-chr4:69317354..69319516,2	MCF-7	breast:
4	chr4:69308561..69313812-chr4:69314832..69320961,6	K562	blood:
5	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
6	chr4:69313083..69315969-chr4:69334821..69336429,2	MCF-7	breast:
7	chr4:69317417..69319881-chr4:69327468..69329389,2	MCF-7	breast:
8	chr4:69319066..69321050-chr4:69325892..69327547,2	MCF-7	breast:
9	chr4:69362843..69365661-chr4:69770776..69774163,4	MCF-7	breast:
10	chr4:69211043..69213753-chr4:69341284..69343236,2	K562	blood:
11	chr4:69326187..69328959-chr4:69331153..69333884,3	MCF-7	breast:
12	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
13	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
14	chr4:69261479..69263949-chr4:69265088..69267687,3	K562	blood:
15	chr4:69235222..69236888-chr4:69330787..69333108,2	MCF-7	breast:
16	chr4:69314066..69315762-chr4:69317720..69319307,2	K562	blood:
17	chr4:69375140..69375898-chr4:69492301..69492816,2	MCF-7	breast:
18	chr4:69215797..69217317-chr4:69361139..69363891,2	MCF-7	breast:
19	chr4:68794694..68797024-chr4:69366841..69368465,2	MCF-7	breast:
20	chr4:69330018..69331837-chr4:69335427..69337976,2	MCF-7	breast:
21	chr4:69311298..69314792-chr4:69316366..69319525,5	MCF-7	breast:
22	chr4:69293251..69295177-chr4:69318009..69319544,2	K562	blood:
23	chr4:69363348..69364328-chr4:69890914..69891634,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B17-1	chr4:69375159-69375392	NONHSAT096733
2	lnc-TMPRSS11E-2	chr4:69480137-69480731	NONHSAT096735
3	lnc-UGT2B15-3	chr4:69481111-69481855	NONHSAT096736
4	lnc-UGT2B15-2	chr4:69492565-69492700	NONHSAT096737
5	lnc-UGT2B17-1	chr4:69382627-69383365	NONHSAT096733
6	lnc-UGT2B15-2	chr4:69493903-69494617	NONHSAT096737

No data

Variant related genes	Relation type
TMPRSS11E	TF binding region
ENSG00000249472	TF binding region
ENSG00000251074	TF binding region
ENSG00000251101	TF binding region
UGT2B17	TF binding region
UGT2B29P	TF binding region
TMPRSS11E	CpG island
ENSG00000249472	CpG island
ENSG00000251074	CpG island
ENSG00000251101	CpG island
UGT2B17	CpG island
UGT2B29P	CpG island
ENSG00000249985	chromatin interactions
ENSG00000083896	chromatin interactions
ENSG00000087128	chromatin interactions
ENSG00000272626	chromatin interactions

Extended variants
information (count: 7794 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:7794 , 50 per page) page: 1 2 3 4 5 6 7 ... 156

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200346318	chr4:69255070-69255071	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74763166	chr4:69255072-69255073	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72625070	chr4:69255073-69255074	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs11510463	chr4:69255077-69255078	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541649848	chr4:69255111-69255112	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11510464	chr4:69255188-69255189	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546995552	chr4:69255212-69255213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34982752	chr4:69255213-69255214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs143825346	chr4:69255221-69255222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181697052	chr4:69255274-69255275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534040634	chr4:69255338-69255339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568706519	chr4:69255357-69255358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537676485	chr4:69255390-69255391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147258512	chr4:69255402-69255403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577881826	chr4:69255432-69255433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562730792	chr4:69255477-69255478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564458906	chr4:69255517-69255518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553731514	chr4:69255533-69255534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573736153	chr4:69255567-69255568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112191304	chr4:69255587-69255588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372153419	chr4:69255610-69255611	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187174647	chr4:69255732-69255733	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139694416	chr4:69255745-69255746	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542733303	chr4:69255927-69255928	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35927465	chr4:69255952-69255953	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575892788	chr4:69255997-69255998	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544807114	chr4:69256029-69256030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564598419	chr4:69256030-69256031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192471283	chr4:69256035-69256036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546638774	chr4:69256069-69256070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560107197	chr4:69256129-69256130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144849670	chr4:69256144-69256145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367669705	chr4:69256150-69256151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34099349	chr4:69256271-69256272	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs569041375	chr4:69256274-69256275	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182393592	chr4:69256345-69256346	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531368824	chr4:69256359-69256360	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35259089	chr4:69256384-69256385	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551574431	chr4:69256430-69256431	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571405621	chr4:69256444-69256445	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375857486	chr4:69256625-69256626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74384144	chr4:69256637-69256638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373282976	chr4:69256724-69256725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187883390	chr4:69256758-69256759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35169236	chr4:69256762-69256763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536288886	chr4:69256799-69256800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191065482	chr4:69256804-69256805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34491637	chr4:69256841-69256842	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs544435219	chr4:69256842-69256843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558342305	chr4:69256844-69256845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69232200-69255600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:69242200-69255400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:69253400-69255600	Enhancers	Fetal Intestine Small	intestine
4	chr4:69253400-69258000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:69254000-69257400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr4:69254200-69256800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:69254200-69257400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:69254200-69257400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:69254400-69255400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:69254600-69256400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:69254600-69256400	Enhancers	Fetal Intestine Large	intestine
12	chr4:69254600-69258600	Enhancers	Fetal Lung	lung
13	chr4:69254800-69255200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr4:69254800-69255200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr4:69254800-69255800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:69255000-69256600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:69255200-69255600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:69255200-69258200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:69255400-69255800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:69255400-69256400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:69255400-69256400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:69255600-69256000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:69255600-69256200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:69255600-69256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:69255600-69256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:69255600-69260600	Weak transcription	Fetal Intestine Small	intestine
27	chr4:69255800-69257400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:69255800-69270200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:69256000-69256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr4:69256000-69256400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:69256000-69256400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:69256000-69256600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:69256200-69256600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr4:69256200-69260200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:69256400-69261600	Weak transcription	Fetal Intestine Large	intestine
36	chr4:69256600-69257400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:69256600-69257400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:69256600-69260000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:69257400-69263800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:69257400-69272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:69258000-69269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:69260000-69260200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr4:69260200-69260400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr4:69260200-69263600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:69260400-69261200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:69260600-69265200	Enhancers	Fetal Intestine Small	intestine
47	chr4:69261600-69265400	Enhancers	Fetal Intestine Large	intestine
48	chr4:69262200-69264000	Enhancers	Placenta	Placenta
49	chr4:69263600-69265000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:69263800-69264400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links