Variant report

Variant	nsv2977
Chromosome Location	chr1:154881053-154907613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:184)
CpG islands
(count:184)
Chromatin interactive
region (count:46)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:184 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:154904539-154905109	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:154885922-154886077	HepG2	liver:	n/a	n/a
3	BHLHE40	chr1:154881568-154881600	K562	blood:	n/a	n/a
4	BRCA1	chr1:154904683-154904986	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr1:154880838-154881204	K562	blood:	n/a	n/a
6	CBX3	chr1:154898784-154899189	K562	blood:	n/a	n/a
7	CEBPB	chr1:154904897-154905142	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:154904469-154905198	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr1:154904631-154904901	HepG2	liver:	n/a	n/a
10	CHD2	chr1:154904563-154904952	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr1:154904703-154904747	HepG2	liver:	n/a	n/a
12	CREB1	chr1:154904664-154904931	A549	lung:	n/a	n/a
13	CREB1	chr1:154904289-154905113	HepG2	liver:	n/a	n/a
14	CTCF	chr1:154898625-154898676	GM10248	blood:	n/a	n/a
15	CTCF	chr1:154885100-154885250	HEK293	kidney:	n/a	n/a
16	CTCF	chr1:154885143-154885245	HepG2	liver:	n/a	n/a
17	CTCF	chr1:154903794-154903800	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr1:154885193-154885220	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:154885116-154885287	HepG2	liver:	n/a	n/a
20	CTCF	chr1:154885100-154885250	SAEC	small airway:	n/a	n/a
21	CTCF	chr1:154885161-154885192	GM12878	blood:	n/a	n/a
22	CTCF	chr1:154885150-154885271	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:154885080-154885230	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:154885100-154885250	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr1:154882680-154882830	GM12865	blood:	n/a	n/a
26	CTCF	chr1:154902320-154902470	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr1:154885100-154885250	HepG2	liver:	n/a	n/a
28	CTCF	chr1:154885172-154885230	NHEK	skin:	n/a	n/a
29	CTCF	chr1:154904620-154904770	Caco-2	colon:	n/a	n/a
30	CTCF	chr1:154885119-154885256	K562	blood:	n/a	n/a
31	CTCF	chr1:154904760-154904910	HMEC	breast:	n/a	n/a
32	CTCF	chr1:154904840-154904990	HEEpiC	esophagus:	n/a	n/a
33	E2F4	chr1:154904715-154904754	MCF10A-Er-Src	breast:	n/a	n/a
34	ELK1	chr1:154904648-154904914	Hela-S3	cervix:	n/a	n/a
35	EP300	chr1:154904451-154904871	HepG2	liver:	n/a	n/a
36	EP300	chr1:154900279-154900290	K562	blood:	n/a	n/a
37	EP300	chr1:154904328-154904965	HepG2	liver:	n/a	n/a
38	ESR1	chr1:154887158-154887556	ECC-1	luminal epithelium:	n/a	chr1:154887371-154887386
39	ESR1	chr1:154887193-154887512	ECC-1	luminal epithelium:	n/a	chr1:154887371-154887386
40	ESR1	chr1:154887278-154887481	ECC-1	luminal epithelium:	n/a	chr1:154887371-154887386
41	ESR1	chr1:154887111-154887504	ECC-1	luminal epithelium:	n/a	chr1:154887371-154887386
42	ESR1	chr1:154887264-154887492	T-47D	breast:	n/a	chr1:154887371-154887386
43	ESR1	chr1:154887167-154887498	T-47D	breast:	n/a	chr1:154887371-154887386
44	FOS	chr1:154904398-154905089	MCF10A-Er-Src	breast:	n/a	chr1:154904747-154904755 chr1:154904746-154904756
45	FOS	chr1:154904508-154904896	MCF10A-Er-Src	breast:	n/a	chr1:154904747-154904755 chr1:154904746-154904756
46	FOS	chr1:154904481-154904923	MCF10A-Er-Src	breast:	n/a	chr1:154904747-154904755 chr1:154904746-154904756
47	FOS	chr1:154904443-154904941	MCF10A-Er-Src	breast:	n/a	chr1:154904747-154904755 chr1:154904746-154904756
48	FOSL2	chr1:154904493-154904999	HepG2	liver:	n/a	chr1:154904747-154904755 chr1:154904746-154904756 chr1:154904744-154904755
49	FOSL2	chr1:154904361-154904980	HepG2	liver:	n/a	chr1:154904747-154904755 chr1:154904746-154904756 chr1:154904744-154904755
50	GTF2F1	chr1:154904559-154905012	Hela-S3	cervix:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:154904804-154904854	GM12891	blood:	n/a
2	chr1:154904804-154904854	GM12891	blood:	n/a
3	chr1:154897518-154897568	NB4	blood:	n/a
4	chr1:154897518-154897568	A549	lung:	n/a
5	chr1:154906773-154906823	BJ	skin:	n/a
6	chr1:154906773-154906823	HEK293	kidney:	embryo
7	chr1:154906773-154906823	PrEC	prostate:	n/a
8	chr1:154904804-154904854	Hepatocyte	liver:	n/a
9	chr1:154897518-154897568	AG04450	lung:	fetal
10	chr1:154897518-154897568	AG09319	gingival:	n/a
11	chr1:154904804-154904854	HCT-116	colon:	n/a
12	chr1:154904804-154904854	SK-N-SH	brain:	n/a
13	chr1:154906773-154906823	HL-60	blood:	n/a
14	chr1:154897518-154897568	HepG2	liver:	n/a
15	chr1:154897518-154897568	ProgFib	skin:	n/a
16	chr1:154897518-154897568	ECC-1	luminal epithelium:	n/a
17	chr1:154906773-154906823	HRE	kidney:	n/a
18	chr1:154906773-154906823	HRCEpiC	kidney:	n/a
19	chr1:154897518-154897568	PANC-1	pancreas:	n/a
20	chr1:154904804-154904854	HCPEpiC	choroid plexus:	n/a
21	chr1:154906773-154906823	PFSK-1	brain:	n/a
22	chr1:154897518-154897568	SKMC	muscle:	n/a
23	chr1:154906773-154906823	Caco-2	colon:	n/a
24	chr1:154897518-154897568	HRE	kidney:	n/a
25	chr1:154904804-154904854	AG04449	skin:	fetal
26	chr1:154897518-154897568	Jurkat	blood:	n/a
27	chr1:154897518-154897568	H1-hESC	embryonic stem cell:	embryo
28	chr1:154897518-154897568	HRPEpiC	eye:	n/a
29	chr1:154897518-154897568	GM19239	blood:	n/a
30	chr1:154904804-154904854	HepG2	liver:	n/a
31	chr1:154897518-154897568	HNPCEpiC	eye:	n/a
32	chr1:154897518-154897568	AG10803	skin:	n/a
33	chr1:154904804-154904854	ECC-1	luminal epithelium:	n/a
34	chr1:154904804-154904854	AoSMC	blood vessel:	n/a
35	chr1:154897518-154897568	HMEC	breast:	n/a
36	chr1:154897518-154897568	SAEC	small airway:	n/a
37	chr1:154904804-154904854	HRCEpiC	kidney:	n/a
38	chr1:154906773-154906823	H1-hESC	embryonic stem cell:	embryo
39	chr1:154897518-154897568	K562	blood:	n/a
40	chr1:154904804-154904854	Hela-S3	cervix:	n/a
41	chr1:154906773-154906823	MCF10A-Er-Src	breast:	n/a
42	chr1:154906773-154906823	NB4	blood:	n/a
43	chr1:154906773-154906823	AG09309	skin:	n/a
44	chr1:154897518-154897568	HRCEpiC	kidney:	n/a
45	chr1:154904804-154904854	T-47D	breast:	n/a
46	chr1:154906773-154906823	HepG2	liver:	n/a
47	chr1:154904804-154904854	H1-hESC	embryonic stem cell:	embryo
48	chr1:154904804-154904854	AG04450	lung:	fetal
49	chr1:154906773-154906823	HRPEpiC	eye:	n/a
50	chr1:154906773-154906823	CMK	blood:	n/a

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154896921..154899506-chr1:154944950..154947369,2	MCF-7	breast:
2	chr1:154880349..154881948-chr1:154884492..154887038,2	K562	blood:
3	chr1:154897179..154899202-chr1:154902262..154904996,2	K562	blood:
4	chr1:154898235..154901103-chr1:154908518..154910078,2	K562	blood:
5	chr1:154903245..154906216-chr1:154928700..154931455,2	K562	blood:
6	chr1:154897327..154899554-chr1:154972284..154973905,2	K562	blood:
7	chr1:154879379..154881257-chr1:154944296..154946736,2	MCF-7	breast:
8	chr1:154886112..154888306-chr1:154903481..154905396,2	K562	blood:
9	chr1:154898414..154901108-chr1:154965094..154967313,2	MCF-7	breast:
10	chr1:154897126..154900008-chr1:155040809..155042688,2	MCF-7	breast:
11	chr1:154884926..154886519-chr1:154892159..154893677,2	MCF-7	breast:
12	chr1:154903050..154905621-chr1:154907770..154910146,3	K562	blood:
13	chr1:154897367..154899498-chr1:154907616..154911197,3	MCF-7	breast:
14	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
15	chr1:154881164..154883503-chr9:140135699..140137300,2	MCF-7	breast:
16	chr1:154880263..154882530-chr1:154985215..154987910,2	K562	blood:
17	chr1:154897179..154899202-chr1:154902262..154904996,2	K562	blood:
18	chr1:154882778..154883698-chr1:154989669..154990611,2	K562	blood:
19	chr1:154849815..154852371-chr1:154881627..154884570,2	MCF-7	breast:
20	chr1:154528299..154532058-chr1:154906276..154909371,3	K562	blood:
21	chr1:154881013..154882772-chr1:154900438..154902039,2	MCF-7	breast:
22	chr1:154880349..154881948-chr1:154884492..154887038,2	K562	blood:
23	chr1:154886112..154888306-chr1:154903481..154905396,2	K562	blood:
24	chr1:154892548..154895461-chr1:154971772..154973336,2	K562	blood:
25	chr1:154900011..154901853-chr1:154902099..154904633,2	K562	blood:
26	chr1:154880267..154882308-chr1:154975030..154977553,2	MCF-7	breast:
27	chr1:154900011..154901853-chr1:154902099..154904633,2	K562	blood:
28	chr1:154882150..154887936-chr1:154908082..154910802,7	MCF-7	breast:
29	chr1:154519911..154522029-chr1:154904733..154906266,2	MCF-7	breast:
30	chr1:154893687..154895770-chr1:154896585..154899299,2	K562	blood:
31	chr1:154901654..154906164-chr1:154907018..154910146,5	K562	blood:
32	chr1:154578327..154580689-chr1:154898287..154900817,2	MCF-7	breast:
33	chr1:154902125..154904691-chr1:154910364..154912646,2	K562	blood:
34	chr1:154895929..154898586-chr1:154934188..154935889,2	K562	blood:
35	chr1:154885827..154888231-chr1:154908880..154910978,2	MCF-7	breast:
36	chr1:154894734..154897695-chr1:154923296..154925878,2	K562	blood:
37	chr1:154884926..154886519-chr1:154892159..154893677,2	MCF-7	breast:
38	chr1:154882435..154885017-chr1:154964825..154967536,2	MCF-7	breast:
39	chr1:154904761..154906507-chr20:52729592..52731251,2	MCF-7	breast:
40	chr1:154886823..154888374-chr1:155057346..155059577,2	MCF-7	breast:
41	chr1:154901094..154903589-chr1:154973486..154975306,2	K562	blood:
42	chr1:154900855..154902464-chr1:154938532..154940932,2	K562	blood:
43	chr1:154881013..154882772-chr1:154900438..154902039,2	MCF-7	breast:
44	chr1:154893687..154895770-chr1:154896585..154899299,2	K562	blood:
45	chr1:154876039..154878161-chr1:154882581..154884940,2	K562	blood:
46	chr1:154885018..154887470-chr1:155022221..155024315,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PMVK-3	chr1:154880039-154883076	expRegAs_chr1_16333_-
2	lnc-PMVK-2	chr1:154883080-154883596	expRegAs_chr1_16334_-

No data

Variant related genes	Relation type
ENSG00000270361	TF binding region
ENSG00000270361	CpG island
ENSG00000163348	chromatin interactions
ENSG00000160714	chromatin interactions
ENSG00000271380	chromatin interactions
ENSG00000188229	chromatin interactions
ENSG00000173207	chromatin interactions
ENSG00000143590	chromatin interactions
ENSG00000270361	chromatin interactions
ENSG00000160685	chromatin interactions
ENSG00000160688	chromatin interactions
ENSG00000143537	chromatin interactions
ENSG00000163344	chromatin interactions
ENSG00000160691	chromatin interactions
ENSG00000163352	chromatin interactions
ENSG00000160710	chromatin interactions

Extended variants
information (count: 837 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:837 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188988229	chr1:154881107-154881108	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs1218596	chr1:154881110-154881111	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181641699	chr1:154881125-154881126	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs371495956	chr1:154881126-154881127	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs139304434	chr1:154881194-154881195	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs549292172	chr1:154881211-154881212	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs185771775	chr1:154881233-154881234	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs528985112	chr1:154881277-154881278	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs547423226	chr1:154881287-154881288	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs565630534	chr1:154881288-154881289	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs78891530	chr1:154881304-154881305	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs551617753	chr1:154881438-154881439	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs569835754	chr1:154881440-154881441	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs1007170	chr1:154881461-154881462	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs555264108	chr1:154881489-154881490	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs567431211	chr1:154881496-154881497	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
17	rs552972141	chr1:154881526-154881527	Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
18	rs149007415	chr1:154881607-154881608	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
19	rs544988033	chr1:154881617-154881618	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
20	rs143442962	chr1:154881618-154881619	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
21	rs575846980	chr1:154881669-154881670	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
22	rs543244101	chr1:154881799-154881800	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
23	rs542818301	chr1:154881818-154881819	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
24	rs561281761	chr1:154881845-154881846	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
25	rs528999880	chr1:154881916-154881917	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
26	rs541098163	chr1:154881936-154881937	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
27	rs207460451	chr1:154881978-154881979	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
28	rs375154314	chr1:154881998-154881999	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
29	rs532990702	chr1:154882035-154882036	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
30	rs59311078	chr1:154882061-154882062	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569979738	chr1:154882099-154882100	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
32	rs188724774	chr1:154882104-154882105	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
33	rs549164090	chr1:154882129-154882130	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
34	rs567097296	chr1:154882158-154882159	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs534808200	chr1:154882190-154882191	Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs147991358	chr1:154882296-154882297	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs141673118	chr1:154882373-154882374	Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs539073071	chr1:154882422-154882423	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs557065817	chr1:154882467-154882468	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs575900085	chr1:154882525-154882526	Weak transcription Enhancers	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs10908448	chr1:154882544-154882545	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs144704838	chr1:154882598-154882599	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
43	rs199733565	chr1:154882638-154882639	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
44	rs76295932	chr1:154882647-154882648	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
45	rs540812341	chr1:154882728-154882729	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
46	rs181238810	chr1:154882774-154882775	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
47	rs370661185	chr1:154882797-154882798	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
48	rs533056689	chr1:154882821-154882822	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
49	rs544999617	chr1:154882890-154882891	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs563090491	chr1:154882942-154882943	Weak transcription Enhancers	Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	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
Non-syndromic sensorineural hearing loss	15273396	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
Ewing''s sarcoma	21437220	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
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
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
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
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154879200-154893200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:154879400-154882400	Weak transcription	Spleen	Spleen
3	chr1:154879800-154894800	Weak transcription	Aorta	Aorta
4	chr1:154880400-154881800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:154880400-154894400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:154880800-154881800	Enhancers	HepG2	liver
7	chr1:154881000-154882200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:154881000-154883800	Weak transcription	Right Ventricle	heart
9	chr1:154881200-154881800	Enhancers	Esophagus	oesophagus
10	chr1:154881400-154881600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr1:154881400-154881800	Enhancers	K562	blood
12	chr1:154881400-154894800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:154881600-154895800	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:154881800-154882600	Weak transcription	Esophagus	oesophagus
15	chr1:154881800-154883200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:154882200-154891200	Weak transcription	Fetal Stomach	stomach
17	chr1:154882400-154883600	Enhancers	Spleen	Spleen
18	chr1:154882400-154897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:154882600-154882800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:154882600-154882800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:154882600-154885000	Enhancers	Esophagus	oesophagus
22	chr1:154882600-154889200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:154882800-154883000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:154882800-154883600	Enhancers	Placenta	Placenta
25	chr1:154882800-154884400	Weak transcription	Fetal Brain Female	brain
26	chr1:154882800-154897400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:154883000-154883600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:154883000-154884600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:154883000-154884600	Enhancers	NHEK	skin
30	chr1:154883000-154884800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:154883200-154884000	Enhancers	HMEC	breast
32	chr1:154883200-154884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:154883200-154885000	Weak transcription	Lung	lung
34	chr1:154883200-154887200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:154883400-154894800	Weak transcription	Primary T cells from cord blood	blood
36	chr1:154883600-154884400	Weak transcription	Spleen	Spleen
37	chr1:154883600-154886800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:154883600-154893200	Weak transcription	Liver	Liver
39	chr1:154883600-154895000	Weak transcription	Placenta	Placenta
40	chr1:154883800-154885200	Enhancers	Right Ventricle	heart
41	chr1:154883800-154886800	Enhancers	Fetal Heart	heart
42	chr1:154883800-154894800	Weak transcription	Brain Germinal Matrix	brain
43	chr1:154884000-154893400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:154884000-154894600	Weak transcription	Gastric	stomach
45	chr1:154884000-154895200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:154884000-154897800	Weak transcription	HMEC	breast
47	chr1:154884200-154885000	Enhancers	Ovary	ovary
48	chr1:154884200-154886800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:154884200-154887200	Enhancers	Left Ventricle	heart
50	chr1:154884400-154884600	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links