Variant report

Variant	nsv469873
Chromosome Location	chr1:152563260-152713616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:731)
CpG islands
(count:2501)
Chromatin interactive
region (count:33)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:152630020-152630046	K562	blood:	n/a	n/a
2	BHLHE40	chr1:152595213-152595387	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:152670607-152670826	K562	blood:	n/a	chr1:152670732-152670741 chr1:152670732-152670741 chr1:152670733-152670742
4	BHLHE40	chr1:152635566-152635930	HepG2	liver:	n/a	chr1:152635767-152635776 chr1:152635766-152635775 chr1:152635766-152635775
5	BHLHE40	chr1:152626601-152626748	K562	blood:	n/a	n/a
6	CEBPB	chr1:152647617-152647851	HepG2	liver:	n/a	chr1:152647675-152647686 chr1:152647676-152647687
7	CEBPB	chr1:152693165-152693383	HepG2	liver:	n/a	chr1:152693267-152693278 chr1:152693266-152693279 chr1:152693266-152693277
8	CEBPB	chr1:152631162-152631327	HepG2	liver:	n/a	chr1:152631187-152631200
9	CEBPB	chr1:152569565-152569765	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:152629926-152630079	K562	blood:	n/a	chr1:152630007-152630020
11	CEBPB	chr1:152645885-152646048	HepG2	liver:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
12	CEBPB	chr1:152645922-152646032	K562	blood:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152645928-152645941
13	CEBPB	chr1:152678502-152678567	K562	blood:	n/a	n/a
14	CEBPB	chr1:152645918-152646083	A549	lung:	n/a	chr1:152645928-152645939 chr1:152645930-152645941 chr1:152645928-152645941 chr1:152646021-152646034 chr1:152645928-152645941
15	CEBPB	chr1:152674197-152674385	HepG2	liver:	n/a	n/a
16	CEBPB	chr1:152670676-152670808	Hela-S3	cervix:	n/a	chr1:152670742-152670753
17	CEBPB	chr1:152635735-152635823	HepG2	liver:	n/a	chr1:152635776-152635787 chr1:152635777-152635788
18	CTCF	chr1:152708200-152708350	HA-sp	spinal cord:	n/a	chr1:152708311-152708329
19	CTCF	chr1:152580040-152580190	GM12874	blood:	n/a	chr1:152580060-152580068
20	CTCF	chr1:152626580-152626730	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr1:152595842-152595965	Hela-S3	cervix:	n/a	chr1:152595886-152595904 chr1:152595881-152595902
22	CTCF	chr1:152626502-152626869	K562	blood:	n/a	n/a
23	CTCF	chr1:152626960-152627110	HCM	heart:	n/a	n/a
24	CTCF	chr1:152595740-152595890	GM12878	blood:	n/a	chr1:152595771-152595784
25	CTCF	chr1:152626506-152626826	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr1:152626529-152626784	NHEK	skin:	n/a	n/a
27	CTCF	chr1:152626560-152626710	AG09309	skin:	n/a	n/a
28	CTCF	chr1:152595880-152596030	GM06990	blood:	n/a	chr1:152595886-152595904 chr1:152595881-152595902
29	CTCF	chr1:152595480-152595630	GM12874	blood:	n/a	n/a
30	CTCF	chr1:152626909-152626988	Gliobla	brain:	n/a	n/a
31	CTCF	chr1:152595820-152595970	GM12875	blood:	n/a	chr1:152595886-152595904 chr1:152595881-152595902
32	CTCF	chr1:152626580-152626730	HVMF	connective:	n/a	n/a
33	CTCF	chr1:152708197-152708446	NHEK	skin:	n/a	chr1:152708311-152708329
34	CTCF	chr1:152626540-152626858	A549	lung:	n/a	n/a
35	CTCF	chr1:152626514-152626845	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr1:152708240-152708390	Hela-S3	cervix:	n/a	chr1:152708311-152708329
37	CTCF	chr1:152626560-152626710	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr1:152595620-152595770	A549	lung:	n/a	n/a
39	CTCF	chr1:152595860-152596010	GM12874	blood:	n/a	chr1:152595886-152595904 chr1:152595881-152595902
40	CTCF	chr1:152626580-152626730	GM12864	blood:	n/a	n/a
41	CTCF	chr1:152708240-152708390	MCF-7	breast:	n/a	chr1:152708311-152708329
42	CTCF	chr1:152708300-152708450	HFF	foreskin:	n/a	chr1:152708311-152708329
43	CTCF	chr1:152570000-152570150	GM12864	blood:	n/a	n/a
44	CTCF	chr1:152708220-152708370	GM12875	blood:	n/a	chr1:152708311-152708329
45	CTCF	chr1:152708220-152708370	NHLF	lung:	n/a	chr1:152708311-152708329
46	CTCF	chr1:152595760-152595910	SK-N-SH_RA	brain:	n/a	chr1:152595771-152595784 chr1:152595886-152595904 chr1:152595881-152595902
47	CTCF	chr1:152626580-152626730	GM06990	blood:	n/a	n/a
48	CTCF	chr1:152708093-152708491	HepG2	liver:	n/a	chr1:152708311-152708329
49	CTCF	chr1:152626526-152626785	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr1:152708241-152708385	SK-N-SH_RA	brain:	n/a	chr1:152708311-152708329

(count:2501 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152671348-152671398	Hepatocyte	liver:	n/a
2	chr1:152659554-152659604	SKMC	muscle:	n/a
3	chr1:152658407-152658457	PFSK-1	brain:	n/a
4	chr1:152595882-152595932	NHBE	bronchial:	n/a
5	chr1:152658797-152658847	LNCaP	prostate:	n/a
6	chr1:152658407-152658457	ovcar-3	ovarian:	n/a
7	chr1:152635878-152635928	MCF10A-Er-Src	breast:	n/a
8	chr1:152595351-152595401	HCF	heart:	n/a
9	chr1:152595842-152595892	HCPEpiC	choroid plexus:	n/a
10	chr1:152680639-152680689	SK-N-MC	brain:	n/a
11	chr1:152595629-152595679	HEEpiC	esophagus:	n/a
12	chr1:152657198-152657248	AG04449	skin:	fetal
13	chr1:152596413-152596463	NT2-D1	testis:	n/a
14	chr1:152657399-152657449	HepG2	liver:	n/a
15	chr1:152595351-152595401	Hela-S3	cervix:	n/a
16	chr1:152657198-152657248	HCM	heart:	n/a
17	chr1:152670843-152670893	Jurkat	blood:	n/a
18	chr1:152658407-152658457	HRE	kidney:	n/a
19	chr1:152658287-152658337	HAEpiC	amniotic membrane:	n/a
20	chr1:152691125-152691175	HAEpiC	amniotic membrane:	n/a
21	chr1:152595322-152595372	NB4	blood:	n/a
22	chr1:152657198-152657248	HNPCEpiC	eye:	n/a
23	chr1:152647216-152647266	HepG2	liver:	n/a
24	chr1:152657399-152657449	AG10803	skin:	n/a
25	chr1:152691125-152691175	PrEC	prostate:	n/a
26	chr1:152658797-152658847	SKMC	muscle:	n/a
27	chr1:152646533-152646583	IMR90	lung:	fetal
28	chr1:152657399-152657449	BJ	skin:	n/a
29	chr1:152635200-152635250	SK-N-MC	brain:	n/a
30	chr1:152646533-152646583	BE2_C	brain:	n/a
31	chr1:152670843-152670893	CMK	blood:	n/a
32	chr1:152595882-152595932	HL-60	blood:	n/a
33	chr1:152595882-152595932	HNPCEpiC	eye:	n/a
34	chr1:152596413-152596463	T-47D	breast:	n/a
35	chr1:152669985-152670035	AG09319	gingival:	n/a
36	chr1:152670843-152670893	ProgFib	skin:	n/a
37	chr1:152680639-152680689	SKMC	muscle:	n/a
38	chr1:152595351-152595401	HMEC	breast:	n/a
39	chr1:152596413-152596463	HRE	kidney:	n/a
40	chr1:152595882-152595932	RPTEC	kidney:	n/a
41	chr1:152659754-152659804	U87	brain:	n/a
42	chr1:152636834-152636884	AG04449	skin:	fetal
43	chr1:152680843-152680893	GM19239	blood:	n/a
44	chr1:152680843-152680893	PrEC	prostate:	n/a
45	chr1:152648726-152648776	Hela-S3	cervix:	n/a
46	chr1:152691758-152691808	AG10803	skin:	n/a
47	chr1:152635226-152635276	CMK	blood:	n/a
48	chr1:152595992-152596042	CMK	blood:	n/a
49	chr1:152669985-152670035	HMEC	breast:	n/a
50	chr1:152691125-152691175	T-47D	breast:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152689735..152692412-chr1:152700804..152702466,2	K562	blood:
2	chr1:152700584..152702485-chr1:152711586..152714086,2	MCF-7	breast:
3	chr1:152701006..152703709-chr1:152715626..152717214,2	MCF-7	breast:
4	chr1:152672236..152674933-chr1:152677504..152679505,2	K562	blood:
5	chr1:152632060..152634840-chr1:152638354..152640760,3	MCF-7	breast:
6	chr1:152700584..152702485-chr1:152711586..152714086,2	MCF-7	breast:
7	chr1:152711224..152713888-chr1:152737781..152739633,2	MCF-7	breast:
8	chr1:152699751..152702293-chr1:152707659..152709621,2	MCF-7	breast:
9	chr1:152618269..152620225-chr1:152622000..152623850,2	MCF-7	breast:
10	chr1:152672997..152675930-chr1:152693408..152695846,2	MCF-7	breast:
11	chr1:152672236..152674933-chr1:152677504..152679505,2	K562	blood:
12	chr1:152626130..152627645-chr1:152842015..152844012,15	MCF-7	breast:
13	chr1:152699751..152702293-chr1:152707659..152709621,2	MCF-7	breast:
14	chr1:152626242..152627151-chr1:152734184..152735164,3	MCF-7	breast:
15	chr1:152636333..152638200-chr1:152640382..152642343,2	K562	blood:
16	chr1:152703574..152706354-chr1:152711144..152714004,3	MCF-7	breast:
17	chr1:152703574..152706354-chr1:152711144..152714004,3	MCF-7	breast:
18	chr1:152469656..152470449-chr1:152707864..152708774,3	MCF-7	breast:
19	chr1:152670766..152673516-chr1:152681946..152683762,2	K562	blood:
20	chr1:152640283..152643005-chr1:152645549..152648170,2	MCF-7	breast:
21	chr1:152626212..152627124-chr1:152707916..152708805,6	MCF-7	breast:
22	chr1:152679840..152681449-chr1:152683808..152685613,2	MCF-7	breast:
23	chr1:152580545..152582523-chr1:152584809..152586590,2	K562	blood:
24	chr1:152626165..152627303-chr1:152707558..152708767,8	MCF-7	breast:
25	chr1:152626393..152627202-chr1:153165098..153165609,2	MCF-7	breast:
26	chr1:152636333..152638200-chr1:152640382..152642343,2	K562	blood:
27	chr1:152550535..152553138-chr1:152591146..152593497,2	K562	blood:
28	chr1:152672997..152675930-chr1:152693408..152695846,2	MCF-7	breast:
29	chr1:152618269..152620225-chr1:152622000..152623850,2	MCF-7	breast:
30	chr1:152632060..152634840-chr1:152638354..152640760,3	MCF-7	breast:
31	chr1:152626165..152627303-chr1:152707558..152708767,8	MCF-7	breast:
32	chr1:152626437..152627174-chr1:152749824..152750672,3	MCF-7	breast:
33	chr1:152626212..152627124-chr1:152707916..152708805,6	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE2D-1	chr1:152629075-152629266	ENSG00000176075
2	lnc-C1orf68-1	chr1:152707132-152707523	expReg_chr1_17101_+
3	lnc-LCE2D-1	chr1:152628787-152628812	ENSG00000176075.6
4	lnc-LCE2D-1	chr1:152627953-152628023	ENSG00000176075.6
5	lnc-LCE2D-1	chr1:152629078-152629280	XLOC_000411
6	lnc-LCE3A-1	chr1:152616869-152617193	NONHSAT006491
7	lnc-LCE2D-1	chr1:152627953-152628023	ENSG00000176075
8	lnc-LCE2D-1	chr1:152628787-152628814	ENSG00000176075
9	lnc-LCE2D-1	chr1:152627953-152628023	XLOC_000411
10	lnc-LCE2D-1	chr1:152628787-152628814	XLOC_000411
11	lnc-LCE2D-1	chr1:152629076-152629280	ENSG00000176075.6

No data

Variant related genes	Relation type
LCE2C	TF binding region
LCE3B	TF binding region
ENSG00000226947	TF binding region
LCE2D	TF binding region
LINC00302	TF binding region
ENSG00000229713	TF binding region
LCE3C	TF binding region
C1orf68	TF binding region
LCE2B	TF binding region
LCE3A	TF binding region
LCE2A	TF binding region
LCE4A	TF binding region
ENSG00000233819	TF binding region
LCE2C	CpG island
LCE3B	CpG island
ENSG00000226947	CpG island
LCE2D	CpG island
LINC00302	CpG island
ENSG00000229713	CpG island
LCE3C	CpG island
C1orf68	CpG island
LCE2B	CpG island
LCE3A	CpG island
LCE2A	CpG island
LCE4A	CpG island
ENSG00000233819	CpG island
ENSG00000187170	chromatin interactions
ENSG00000163202	chromatin interactions
ENSG00000187238	chromatin interactions
ENSG00000198854	chromatin interactions
ENSG00000187180	chromatin interactions
ENSG00000233819	chromatin interactions
ENSG00000187173	chromatin interactions

Extended variants
information (count: 2523 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:2523 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375187530	chr1:152568881-152568882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74678552	chr1:152569573-152569574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs548161119	chr1:152569601-152569602	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs571596495	chr1:152569620-152569621	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534082284	chr1:152569690-152569691	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs74131807	chr1:152569693-152569694	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs567384317	chr1:152569772-152569773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61130905	chr1:152569842-152569843	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs555911991	chr1:152569850-152569851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113139072	chr1:152570001-152570002	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs545274520	chr1:152570047-152570048	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574975725	chr1:152570053-152570054	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs367939853	chr1:152570056-152570057	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553633974	chr1:152570057-152570058	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs73019242	chr1:152570081-152570082	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192069597	chr1:152570082-152570083	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539494207	chr1:152570124-152570125	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs560975072	chr1:152570133-152570134	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs557692799	chr1:152580590-152580591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376531442	chr1:152580603-152580604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572898909	chr1:152580608-152580609	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187335548	chr1:152580639-152580640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540176093	chr1:152580652-152580653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs561533624	chr1:152580653-152580654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371471682	chr1:152580712-152580713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573551640	chr1:152580718-152580719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141109663	chr1:152580728-152580729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs574978341	chr1:152580788-152580789	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs531335598	chr1:152580799-152580800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191385906	chr1:152580888-152580889	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111739861	chr1:152580919-152580920	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555628490	chr1:152580926-152580927	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545086448	chr1:152581068-152581069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564567310	chr1:152581173-152581174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143427776	chr1:152581195-152581196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547171071	chr1:152581363-152581364	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573902946	chr1:152581440-152581441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148172852	chr1:152581515-152581516	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529576683	chr1:152581523-152581524	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549140896	chr1:152581534-152581535	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79996405	chr1:152581559-152581560	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs538001584	chr1:152581562-152581563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538854516	chr1:152581634-152581635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114698796	chr1:152581641-152581642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs141076274	chr1:152581729-152581730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571365370	chr1:152581734-152581735	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs115632140	chr1:152581770-152581771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116057194	chr1:152581779-152581780	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12061441	chr1:152581842-152581843	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555933188	chr1:152581966-152581967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152569600-152570200	Enhancers	Liver	Liver
2	chr1:152591000-152592600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:152591000-152592600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr1:152592600-152594600	Weak transcription	Adipose Nuclei	Adipose
5	chr1:152592600-152595200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:152594400-152595000	Enhancers	HSMM	muscle
7	chr1:152594600-152595400	Enhancers	Adipose Nuclei	Adipose
8	chr1:152594600-152595600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:152594600-152596200	Enhancers	Ovary	ovary
10	chr1:152594800-152595600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:152595000-152596400	Enhancers	Liver	Liver
12	chr1:152595000-152596400	Flanking Active TSS	HSMM	muscle
13	chr1:152595000-152596400	Enhancers	HSMMtube	muscle
14	chr1:152595200-152596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:152595200-152596600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:152595400-152595600	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:152595400-152596000	Enhancers	Thymus	Thymus
18	chr1:152595600-152595800	Enhancers	Adipose Nuclei	Adipose
19	chr1:152595600-152596000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:152595600-152596000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr1:152595600-152596200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:152595600-152596200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:152595600-152596200	Active TSS	Brain Anterior Caudate	brain
24	chr1:152595600-152596200	Enhancers	Esophagus	oesophagus
25	chr1:152595600-152596400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr1:152595600-152596400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:152595600-152596800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:152595800-152596000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:152595800-152596000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr1:152595800-152596000	Bivalent Enhancer	Placenta	Placenta
31	chr1:152595800-152596400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:152595800-152596400	ZNF genes & repeats	Pancreas	Pancrea
33	chr1:152596000-152596200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:152596000-152596200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr1:152596000-152596200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:152596000-152596200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr1:152596000-152596400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr1:152596000-152596400	Enhancers	Adipose Nuclei	Adipose
39	chr1:152596000-152596600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:152596000-152596800	Enhancers	Fetal Muscle Trunk	muscle
41	chr1:152596200-152596400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
42	chr1:152596200-152596400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
43	chr1:152596200-152596400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
44	chr1:152596200-152596800	Enhancers	Fetal Muscle Leg	muscle
45	chr1:152596200-152597000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:152596400-152596800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr1:152596400-152597000	Enhancers	HSMM	muscle
48	chr1:152596400-152597200	Weak transcription	Pancreas	Pancrea
49	chr1:152596400-152599400	Weak transcription	Adipose Nuclei	Adipose
50	chr1:152597000-152599200	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links