Variant report

Variant	nsv465740
Chromosome Location	chr8:96211820-96235451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:551)
CpG islands
(count:184)
Chromatin interactive
region (count:72)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:96222407-96222791	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:96212521-96212598	K562	blood:	n/a	n/a
3	ARID3A	chr8:96223744-96224151	HepG2	liver:	n/a	chr8:96223906-96223922 chr8:96223905-96223921
4	ARID3A	chr8:96224165-96224531	K562	blood:	n/a	n/a
5	ARID3A	chr8:96212726-96212965	HepG2	liver:	n/a	n/a
6	ATF1	chr8:96221867-96222148	K562	blood:	n/a	n/a
7	ATF1	chr8:96211938-96212282	K562	blood:	n/a	n/a
8	ATF2	chr8:96226054-96226497	GM12878	blood:	n/a	n/a
9	BCL3	chr8:96229221-96229625	GM12878	blood:	n/a	n/a
10	BHLHE40	chr8:96224599-96224903	K562	blood:	n/a	n/a
11	BHLHE40	chr8:96226960-96227142	K562	blood:	n/a	n/a
12	BRCA1	chr8:96214094-96214463	Hela-S3	cervix:	n/a	n/a
13	CCNT2	chr8:96211922-96212232	K562	blood:	n/a	n/a
14	CCNT2	chr8:96224640-96225068	K562	blood:	n/a	chr8:96224871-96224891 chr8:96224829-96224849 chr8:96224778-96224787
15	CEBPB	chr8:96223712-96224175	MCF-7	breast:	n/a	chr8:96223935-96223952
16	CEBPB	chr8:96224262-96224811	MCF-7	breast:	n/a	n/a
17	CEBPB	chr8:96212635-96213057	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr8:96223796-96224102	IMR90	lung:	n/a	chr8:96223935-96223952
19	CEBPB	chr8:96223745-96225224	MCF-7	breast:	n/a	chr8:96223935-96223952
20	CEBPB	chr8:96227022-96227160	K562	blood:	n/a	n/a
21	CEBPB	chr8:96224693-96225097	K562	blood:	n/a	n/a
22	CEBPB	chr8:96223769-96224133	HepG2	liver:	n/a	chr8:96223935-96223952
23	CEBPB	chr8:96228265-96228279	K562	blood:	n/a	n/a
24	CEBPB	chr8:96226206-96226424	IMR90	lung:	n/a	n/a
25	CEBPB	chr8:96223821-96224049	HepG2	liver:	n/a	chr8:96223935-96223952
26	CEBPB	chr8:96223776-96224140	K562	blood:	n/a	chr8:96223935-96223952
27	CEBPB	chr8:96223739-96224039	HepG2	liver:	n/a	chr8:96223935-96223952
28	CEBPB	chr8:96212677-96212998	HepG2	liver:	n/a	n/a
29	CEBPB	chr8:96223743-96224742	Hela-S3	cervix:	n/a	chr8:96223935-96223952
30	CEBPB	chr8:96224407-96225092	K562	blood:	n/a	n/a
31	CEBPD	chr8:96224628-96225111	K562	blood:	n/a	n/a
32	CHD2	chr8:96231359-96231390	HepG2	liver:	n/a	n/a
33	CHD2	chr8:96212913-96212929	HepG2	liver:	n/a	n/a
34	CHD2	chr8:96212781-96213059	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr8:96214105-96214300	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr8:96233732-96233773	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr8:96215243-96215387	HepG2	liver:	n/a	n/a
38	CTCF	chr8:96213658-96213662	K562	blood:	n/a	n/a
39	CTCF	chr8:96215280-96215430	GM12866	blood:	n/a	n/a
40	CTCF	chr8:96215320-96215470	BE2_C	brain:	n/a	n/a
41	CTCF	chr8:96215194-96215442	HepG2	liver:	n/a	n/a
42	CTCF	chr8:96215254-96215429	K562	blood:	n/a	n/a
43	CTCF	chr8:96231360-96231510	HepG2	liver:	n/a	n/a
44	CTCF	chr8:96215240-96215390	A549	lung:	n/a	n/a
45	CTCF	chr8:96215220-96215370	GM12865	blood:	n/a	n/a
46	CTCF	chr8:96234140-96234290	GM12864	blood:	n/a	n/a
47	CTCF	chr8:96213500-96213650	HepG2	liver:	n/a	n/a
48	CTCF	chr8:96213500-96213650	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr8:96226160-96226310	AG10803	skin:	n/a	n/a
50	CTCF	chr8:96215274-96215395	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96214079-96214129	HEEpiC	esophagus:	n/a
2	chr8:96214079-96214129	HEEpiC	esophagus:	n/a
3	chr8:96226844-96226894	AG04449	skin:	fetal
4	chr8:96226844-96226894	GM12878	blood:	n/a
5	chr8:96214079-96214129	Caco-2	colon:	n/a
6	chr8:96213626-96213676	MCF-7	breast:	n/a
7	chr8:96213626-96213676	CMK	blood:	n/a
8	chr8:96214079-96214129	NB4	blood:	n/a
9	chr8:96226844-96226894	NHDF-neo	bronchial:	n/a
10	chr8:96214079-96214129	U87	brain:	n/a
11	chr8:96213626-96213676	H1-hESC	embryonic stem cell:	embryo
12	chr8:96213626-96213676	HepG2	liver:	n/a
13	chr8:96226844-96226894	HUVEC	blood vessel:	n/a
14	chr8:96214079-96214129	SKMC	muscle:	n/a
15	chr8:96226844-96226894	AG09309	skin:	n/a
16	chr8:96214079-96214129	PFSK-1	brain:	n/a
17	chr8:96226844-96226894	K562	blood:	n/a
18	chr8:96226844-96226894	Jurkat	blood:	n/a
19	chr8:96213626-96213676	PrEC	prostate:	n/a
20	chr8:96214079-96214129	SK-N-SH	brain:	n/a
21	chr8:96213626-96213676	HCT-116	colon:	n/a
22	chr8:96213626-96213676	NHBE	bronchial:	n/a
23	chr8:96214079-96214129	GM12892	blood:	n/a
24	chr8:96214079-96214129	GM19239	blood:	n/a
25	chr8:96213626-96213676	GM19239	blood:	n/a
26	chr8:96226844-96226894	NHBE	bronchial:	n/a
27	chr8:96214079-96214129	Hepatocyte	liver:	n/a
28	chr8:96214079-96214129	HIPEpiC	eye:	n/a
29	chr8:96226844-96226894	A549	lung:	n/a
30	chr8:96213626-96213676	SKMC	muscle:	n/a
31	chr8:96214079-96214129	HEK293	kidney:	embryo
32	chr8:96226844-96226894	HIPEpiC	eye:	n/a
33	chr8:96214079-96214129	MCF-7	breast:	n/a
34	chr8:96213626-96213676	GM12878	blood:	n/a
35	chr8:96226844-96226894	MCF-7	breast:	n/a
36	chr8:96214079-96214129	T-47D	breast:	n/a
37	chr8:96213626-96213676	NT2-D1	testis:	n/a
38	chr8:96214079-96214129	HL-60	blood:	n/a
39	chr8:96226844-96226894	ProgFib	skin:	n/a
40	chr8:96214079-96214129	HCF	heart:	n/a
41	chr8:96213626-96213676	ovcar-3	ovarian:	n/a
42	chr8:96226844-96226894	PANC-1	pancreas:	n/a
43	chr8:96213626-96213676	HRPEpiC	eye:	n/a
44	chr8:96213626-96213676	HCM	heart:	n/a
45	chr8:96214079-96214129	H1-hESC	embryonic stem cell:	embryo
46	chr8:96213626-96213676	HAEpiC	amniotic membrane:	n/a
47	chr8:96213626-96213676	SK-N-SH_RA	brain:	n/a
48	chr8:96213626-96213676	SK-N-MC	brain:	n/a
49	chr8:96214079-96214129	BE2_C	brain:	n/a
50	chr8:96213626-96213676	NHDF-neo	bronchial:	n/a

(count:72 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:96224814..96227323-chr8:96239460..96241166,3	MCF-7	breast:
2	chr8:96212357..96216108-chr8:96221721..96225402,5	MCF-7	breast:
3	chr8:96222030..96225621-chr8:96235538..96238037,4	MCF-7	breast:
4	chr8:96145268..96146858-chr8:96230035..96232960,2	MCF-7	breast:
5	chr8:96114675..96115219-chr8:96215202..96216074,2	MCF-7	breast:
6	chr8:96214009..96217041-chr8:96227079..96229399,3	K562	blood:
7	chr8:96220160..96222982-chr8:96225240..96226907,2	K562	blood:
8	chr8:96203613..96205936-chr8:96222642..96224693,2	MCF-7	breast:
9	chr8:96124242..96126154-chr8:96223005..96225325,2	MCF-7	breast:
10	chr8:96204685..96206421-chr8:96234538..96236078,2	MCF-7	breast:
11	chr8:96231573..96233965-chr8:96249378..96252236,2	K562	blood:
12	chr8:96145115..96147475-chr8:96218834..96220773,2	MCF-7	breast:
13	chr8:96203164..96205455-chr8:96217318..96219508,3	MCF-7	breast:
14	chr8:96221874..96223119-chr8:96235797..96236784,7	MCF-7	breast:
15	chr8:96145520..96147593-chr8:96211677..96214625,3	MCF-7	breast:
16	chr8:96206048..96207695-chr8:96222331..96224850,2	MCF-7	breast:
17	chr8:96077808..96080245-chr8:96234205..96235808,2	MCF-7	breast:
18	chr8:96221802..96225274-chr8:96226379..96230011,4	K562	blood:
19	chr8:96234462..96239842-chr8:96279058..96283088,6	K562	blood:
20	chr8:96171786..96172477-chr8:96211697..96212423,2	MCF-7	breast:
21	chr8:96222002..96228732-chr8:96228964..96237755,16	MCF-7	breast:
22	chr8:96229120..96231629-chr8:96232251..96235212,3	MCF-7	breast:
23	chr8:96214177..96216026-chr8:96245562..96248226,2	MCF-7	breast:
24	chr8:96144879..96147244-chr8:96226350..96228191,2	MCF-7	breast:
25	chr8:96215901..96218694-chr8:96226457..96227957,2	MCF-7	breast:
26	chr8:96183340..96184864-chr8:96221923..96223784,2	MCF-7	breast:
27	chr8:96069007..96069758-chr8:96214829..96215355,2	MCF-7	breast:
28	chr8:96111749..96114066-chr8:96234612..96236782,2	K562	blood:
29	chr8:96097880..96099872-chr8:96212042..96213834,2	MCF-7	breast:
30	chr8:96234981..96237972-chr8:97273758..97275615,2	MCF-7	breast:
31	chr8:96219891..96220818-chr8:96235921..96236731,3	MCF-7	breast:
32	chr8:96147448..96150087-chr8:96233164..96235373,2	MCF-7	breast:
33	chr8:96124552..96125363-chr8:96224111..96224757,2	MCF-7	breast:
34	chr8:96201546..96203086-chr8:96222450..96224514,2	MCF-7	breast:
35	chr8:96230420..96235229-chr8:96280327..96282960,4	MCF-7	breast:
36	chr8:96228952..96231247-chr8:96237951..96240683,3	MCF-7	breast:
37	chr8:96210411..96213768-chr8:96214869..96218158,4	K562	blood:
38	chr8:96232323..96234888-chr8:96235835..96240054,4	MCF-7	breast:
39	chr8:96222260..96224188-chr8:96237998..96239656,2	MCF-7	breast:
40	chr8:96205463..96207920-chr8:96210246..96213783,6	MCF-7	breast:
41	chr8:96145311..96147896-chr8:96222063..96224775,3	MCF-7	breast:
42	chr8:96218170..96221837-chr8:96222580..96225075,3	MCF-7	breast:
43	chr8:96215833..96219585-chr8:96222855..96225579,4	K562	blood:
44	chr8:96201331..96202935-chr8:96212671..96215830,3	K562	blood:
45	chr8:96203588..96205355-chr8:96213750..96216635,2	MCF-7	breast:
46	chr8:96223779..96226497-chr8:96236467..96238844,2	K562	blood:
47	chr8:96217038..96220399-chr8:96221117..96225068,5	MCF-7	breast:
48	chr8:96217038..96220399-chr8:96221117..96225068,5	MCF-7	breast:
49	chr21:41758888..41761339-chr8:96214084..96215888,2	MCF-7	breast:
50	chr8:96218443..96220891-chr8:96249353..96251227,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PLEKHF2-2	chr8:96217488-96217540	ENSG00000253773.1
2	lnc-C8orf37-1	chr8:96219235-96219536	ENSG00000253351
3	lnc-C8orf37-1	chr8:96228546-96228602	ENSG00000253351
4	lnc-C8orf37-1	chr8:96228546-96228743	NONHSAT127827
5	lnc-C8orf37-1	chr8:96220713-96220767	NONHSAT127827
6	lnc-PLEKHF2-2	chr8:96216684-96217151	ENSG00000253773.1
7	lnc-C8orf37-1	chr8:96220647-96220806	ENSG00000253351

No data

Variant related genes	Relation type
ENSG00000253351	TF binding region
ENSG00000253773	TF binding region
ENSG00000253351	CpG island
ENSG00000253773	CpG island
ENSG00000253773	chromatin interactions
ENSG00000253351	chromatin interactions
ENSG00000156469	chromatin interactions
ENSG00000175895	chromatin interactions
ENSG00000254248	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000156471	chromatin interactions
ENSG00000156172	chromatin interactions

Extended variants
information (count: 933 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:933 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12545256	chr8:96211820-96211821	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13270120	chr8:96211855-96211856	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369181268	chr8:96211865-96211866	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577678854	chr8:96211876-96211877	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538566870	chr8:96211887-96211888	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs73695411	chr8:96211996-96211997	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73695412	chr8:96212008-96212009	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs184866602	chr8:96212016-96212017	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs73695413	chr8:96212024-96212025	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2439636	chr8:96212069-96212070	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574444319	chr8:96212071-96212072	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374954397	chr8:96212093-96212094	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557550418	chr8:96212157-96212158	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189197241	chr8:96212169-96212170	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs546466608	chr8:96212195-96212196	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142780507	chr8:96212197-96212198	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528820908	chr8:96212229-96212230	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs542174546	chr8:96212299-96212300	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs73695414	chr8:96212331-96212332	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150647643	chr8:96212337-96212338	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs192070097	chr8:96212343-96212344	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs564284859	chr8:96212382-96212383	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184257156	chr8:96212388-96212389	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs13261245	chr8:96212433-96212434	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73695415	chr8:96212449-96212450	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532803231	chr8:96212453-96212454	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534633101	chr8:96212482-96212483	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533875919	chr8:96212503-96212504	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60579196	chr8:96212530-96212531	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs60219802	chr8:96212585-96212586	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557089738	chr8:96212586-96212587	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs202141882	chr8:96212592-96212593	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs56145750	chr8:96212597-96212598	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189428504	chr8:96212623-96212624	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs74917428	chr8:96212632-96212633	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs180938874	chr8:96212641-96212642	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs185771304	chr8:96212680-96212681	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542163971	chr8:96212681-96212682	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs562444117	chr8:96212690-96212691	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs115333931	chr8:96212737-96212738	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs61012255	chr8:96212741-96212742	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139770248	chr8:96212865-96212866	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs533266192	chr8:96212895-96212896	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs200846987	chr8:96212902-96212903	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs149835315	chr8:96212920-96212921	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs189449384	chr8:96212930-96212931	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528347224	chr8:96212935-96212936	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs533484356	chr8:96212947-96212948	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548179005	chr8:96212984-96212985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182009552	chr8:96212992-96212993	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96204600-96212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:96205000-96213400	Weak transcription	Lung	lung
3	chr8:96205600-96213800	Weak transcription	Thymus	Thymus
4	chr8:96206400-96215000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:96207400-96212800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:96208400-96212000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:96208600-96216400	Weak transcription	Gastric	stomach
8	chr8:96209000-96220000	Weak transcription	Right Ventricle	heart
9	chr8:96210200-96212600	Weak transcription	Pancreas	Pancrea
10	chr8:96210200-96214600	Enhancers	Hela-S3	cervix
11	chr8:96210400-96212600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:96210400-96212600	Weak transcription	Esophagus	oesophagus
13	chr8:96210800-96212600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:96210800-96212600	Weak transcription	A549	lung
15	chr8:96210800-96214000	Weak transcription	Placenta	Placenta
16	chr8:96211000-96212400	Weak transcription	HMEC	breast
17	chr8:96211000-96212800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:96211200-96212000	Weak transcription	Stomach Mucosa	stomach
19	chr8:96211200-96212600	Weak transcription	NHEK	skin
20	chr8:96211400-96212400	Weak transcription	Fetal Thymus	thymus
21	chr8:96211400-96212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:96211600-96212400	Enhancers	HepG2	liver
23	chr8:96211800-96212000	Enhancers	Right Atrium	heart
24	chr8:96211800-96212000	Flanking Active TSS	K562	blood
25	chr8:96211800-96214200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:96212000-96212200	Enhancers	K562	blood
27	chr8:96212000-96212400	Weak transcription	Right Atrium	heart
28	chr8:96212000-96212800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:96212000-96212800	Enhancers	Stomach Mucosa	stomach
30	chr8:96212000-96218000	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:96212200-96212400	Flanking Active TSS	K562	blood
32	chr8:96212400-96212600	Enhancers	Right Atrium	heart
33	chr8:96212400-96212800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:96212400-96213000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:96212400-96213200	Enhancers	Primary B cells from cord blood	blood
36	chr8:96212400-96213200	Enhancers	Liver	Liver
37	chr8:96212400-96214000	Flanking Active TSS	HepG2	liver
38	chr8:96212400-96214200	Enhancers	HMEC	breast
39	chr8:96212400-96214600	Enhancers	K562	blood
40	chr8:96212400-96217000	Enhancers	Fetal Thymus	thymus
41	chr8:96212600-96213000	Enhancers	Pancreas	Pancrea
42	chr8:96212600-96213200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:96212600-96213400	Enhancers	A549	lung
44	chr8:96212600-96213800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:96212600-96213800	Enhancers	Esophagus	oesophagus
46	chr8:96212600-96214000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:96212600-96214000	Weak transcription	Right Atrium	heart
48	chr8:96212600-96214200	Enhancers	NHEK	skin
49	chr8:96212800-96213000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:96212800-96213800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links