Variant report

Variant	nsv465801
Chromosome Location	chr8:125565328-125576681
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:125575830-125576206	HepG2	liver:	n/a	chr8:125575860-125575876
2	BACH1	chr8:125574286-125574401	K562	blood:	n/a	n/a
3	BCL3	chr8:125575852-125576113	GM12878	blood:	n/a	n/a
4	BCL3	chr8:125575859-125576156	GM12878	blood:	n/a	n/a
5	BHLHE40	chr8:125574196-125574409	K562	blood:	n/a	n/a
6	BHLHE40	chr8:125575860-125576236	HepG2	liver:	n/a	n/a
7	BRCA1	chr8:125566357-125566412	Hela-S3	cervix:	n/a	n/a
8	CBX3	chr8:125576389-125577323	K562	blood:	n/a	n/a
9	CBX3	chr8:125574022-125574485	K562	blood:	n/a	n/a
10	CCNT2	chr8:125576482-125577148	K562	blood:	n/a	n/a
11	CEBPB	chr8:125574554-125574841	K562	blood:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
12	CEBPB	chr8:125574600-125574814	IMR90	lung:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
13	CEBPB	chr8:125574555-125574783	A549	lung:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
14	CEBPB	chr8:125574506-125574841	K562	blood:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
15	CEBPB	chr8:125575909-125576108	HepG2	liver:	n/a	n/a
16	CEBPB	chr8:125574510-125574840	HepG2	liver:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
17	CHD2	chr8:125574008-125574253	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr8:125574180-125574330	GM12872	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
19	CTCF	chr8:125574160-125574310	SAEC	small airway:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
20	CTCF	chr8:125568840-125568990	GM12873	blood:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
21	CTCF	chr8:125568820-125568970	HBMEC	blood vessel:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
22	CTCF	chr8:125573120-125573270	K562	blood:	n/a	n/a
23	CTCF	chr8:125573300-125573450	HCT-116	colon:	n/a	n/a
24	CTCF	chr8:125568673-125569096	T-47D	breast:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
25	CTCF	chr8:125576600-125576750	HCFaa	heart:	n/a	chr8:125576737-125576750
26	CTCF	chr8:125574180-125574330	GM12867	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
27	CTCF	chr8:125568840-125568990	GM12864	blood:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
28	CTCF	chr8:125576640-125576790	AG09319	gingival:	n/a	chr8:125576737-125576750
29	CTCF	chr8:125574155-125574348	Fibrobl	skin:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
30	CTCF	chr8:125576660-125576810	GM12872	blood:	n/a	chr8:125576737-125576750
31	CTCF	chr8:125568791-125569061	MCF-7	breast:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
32	CTCF	chr8:125576540-125576690	GM12870	blood:	n/a	n/a
33	CTCF	chr8:125574203-125574326	GM13976	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
34	CTCF	chr8:125576680-125576830	GM12865	blood:	n/a	chr8:125576737-125576750
35	CTCF	chr8:125568597-125569209	HCT-116	colon:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
36	CTCF	chr8:125576631-125576834	Lung_OC	lung:	n/a	chr8:125576737-125576750
37	CTCF	chr8:125568720-125568870	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr8:125568711-125569127	T-47D	breast:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
39	CTCF	chr8:125574155-125574325	MCF-7	breast:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
40	CTCF	chr8:125568800-125568950	Caco-2	colon:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
41	CTCF	chr8:125576660-125576810	GM12865	blood:	n/a	chr8:125576737-125576750
42	CTCF	chr8:125568800-125568950	GM12869	blood:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
43	CTCF	chr8:125568900-125569050	GM12865	blood:	n/a	n/a
44	CTCF	chr8:125574153-125574347	HepG2	liver:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
45	CTCF	chr8:125573040-125573190	NHEK	skin:	n/a	n/a
46	CTCF	chr8:125574200-125574350	SK-N-SH_RA	brain:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
47	CTCF	chr8:125574163-125574355	HUVEC	blood vessel:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
48	CTCF	chr8:125574220-125574370	HepG2	liver:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
49	CTCF	chr8:125568800-125568950	HBMEC	blood vessel:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903
50	CTCF	chr8:125568860-125569010	GM12864	blood:	n/a	chr8:125568887-125568905 chr8:125568890-125568899 chr8:125568889-125568910 chr8:125568892-125568902 chr8:125568890-125568903

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125576109-125576159	HCT-116	colon:	n/a
2	chr8:125576109-125576159	HCF	heart:	n/a
3	chr8:125576109-125576159	T-47D	breast:	n/a
4	chr8:125576109-125576159	MCF-7	breast:	n/a
5	chr8:125576109-125576159	Jurkat	blood:	n/a
6	chr8:125576109-125576159	SAEC	small airway:	n/a
7	chr8:125576109-125576159	IMR90	lung:	fetal
8	chr8:125576109-125576159	AG10803	skin:	n/a
9	chr8:125576109-125576159	BE2_C	brain:	n/a
10	chr8:125576109-125576159	CMK	blood:	n/a
11	chr8:125576109-125576159	A549	lung:	n/a
12	chr8:125576109-125576159	Caco-2	colon:	n/a
13	chr8:125576109-125576159	NHDF-neo	bronchial:	n/a
14	chr8:125576109-125576159	HEK293	kidney:	embryo
15	chr8:125576109-125576159	GM19239	blood:	n/a
16	chr8:125576109-125576159	AG09319	gingival:	n/a
17	chr8:125576109-125576159	ovcar-3	ovarian:	n/a
18	chr8:125576109-125576159	SK-N-SH_RA	brain:	n/a
19	chr8:125576109-125576159	AG04450	lung:	fetal
20	chr8:125576109-125576159	HUVEC	blood vessel:	n/a
21	chr8:125576109-125576159	HepG2	liver:	n/a
22	chr8:125576109-125576159	BJ	skin:	n/a
23	chr8:125576109-125576159	ProgFib	skin:	n/a
24	chr8:125576109-125576159	GM06990	blood:	n/a
25	chr8:125576109-125576159	GM12891	blood:	n/a
26	chr8:125576109-125576159	HIPEpiC	eye:	n/a
27	chr8:125576109-125576159	HMEC	breast:	n/a
28	chr8:125576109-125576159	PFSK-1	brain:	n/a
29	chr8:125576109-125576159	HRE	kidney:	n/a
30	chr8:125576109-125576159	ECC-1	luminal epithelium:	n/a
31	chr8:125576109-125576159	Hepatocyte	liver:	n/a
32	chr8:125576109-125576159	SKMC	muscle:	n/a
33	chr8:125576109-125576159	H1-hESC	embryonic stem cell:	embryo
34	chr8:125576109-125576159	NB4	blood:	n/a
35	chr8:125576109-125576159	U87	brain:	n/a
36	chr8:125576109-125576159	HRCEpiC	kidney:	n/a
37	chr8:125576109-125576159	HL-60	blood:	n/a
38	chr8:125576109-125576159	PrEC	prostate:	n/a
39	chr8:125576109-125576159	NHBE	bronchial:	n/a
40	chr8:125576109-125576159	HPAEpiC	pulmonary alveolar:	n/a
41	chr8:125576109-125576159	GM12878	blood:	n/a
42	chr8:125576109-125576159	NT2-D1	testis:	n/a
43	chr8:125576109-125576159	SK-N-MC	brain:	n/a
44	chr8:125576109-125576159	GM12892	blood:	n/a
45	chr8:125576109-125576159	MCF10A-Er-Src	breast:	n/a
46	chr8:125576109-125576159	NH-A	brain:	n/a
47	chr8:125576109-125576159	AG09309	skin:	n/a
48	chr8:125576109-125576159	Hela-S3	cervix:	n/a
49	chr8:125576109-125576159	HAEpiC	amniotic membrane:	n/a
50	chr8:125576109-125576159	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125563772..125566643-chr8:125826415..125829140,2	K562	blood:
2	chr8:125570946..125573544-chr8:125575024..125576793,2	MCF-7	breast:
3	chr8:125567904..125569364-chr8:125739461..125740487,6	MCF-7	breast:
4	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
5	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
6	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
7	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
8	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
9	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:
10	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:
11	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
12	chr8:125554525..125556396-chr8:125571840..125574093,2	K562	blood:
13	chr8:125543458..125545211-chr8:125571140..125573606,2	MCF-7	breast:
14	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
15	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
16	chr8:125570451..125574343-chr8:125825804..125829124,4	K562	blood:
17	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:
18	chr8:125570314..125572061-chr8:125572775..125574818,2	MCF-7	breast:
19	chr8:125551424..125552952-chr8:125573257..125575450,2	K562	blood:
20	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:
21	chr8:125554525..125556837-chr8:125571840..125574093,4	K562	blood:
22	chr8:125557600..125560665-chr8:125561474..125566163,6	MCF-7	breast:
23	chr8:125573332..125574424-chr8:125592832..125593703,3	MCF-7	breast:
24	chr8:125565320..125567312-chr8:125567324..125569326,2	MCF-7	breast:
25	chr8:125566051..125568002-chr8:125591636..125593613,2	K562	blood:
26	chr8:125542543..125545366-chr8:125564681..125567341,2	MCF-7	breast:
27	chr8:125573757..125577202-chr8:125578987..125583404,3	MCF-7	breast:
28	chr8:125501995..125503698-chr8:125571689..125573791,2	K562	blood:
29	chr8:125570314..125572061-chr8:125572775..125574818,2	MCF-7	breast:
30	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
31	chr8:125573683..125575467-chr8:125971520..125974069,2	MCF-7	breast:
32	chr8:125562848..125565782-chr8:125578592..125581341,2	MCF-7	breast:
33	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
34	chr5:176852795..176855032-chr8:125568012..125570778,2	MCF-7	breast:
35	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
36	chr8:125539308..125541314-chr8:125571807..125574800,2	MCF-7	breast:
37	chr8:125548205..125551096-chr8:125575812..125578141,2	MCF-7	breast:
38	chr8:125566782..125568415-chr8:125579586..125582316,2	K562	blood:
39	chr8:125550147..125552790-chr8:125567789..125570449,2	MCF-7	breast:
40	chr8:125557359..125560396-chr8:125563953..125566035,3	MCF-7	breast:
41	chr8:125572358..125574259-chr8:125739651..125742018,2	MCF-7	breast:
42	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
43	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:

Variant related genes	Relation type
MTSS1	TF binding region
MTSS1	CpG island
ENSG00000272486	chromatin interactions
ENSG00000198055	chromatin interactions
ENSG00000255491	chromatin interactions
ENSG00000170873	chromatin interactions
ENSG00000170881	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000147687	chromatin interactions
ENSG00000245149	chromatin interactions

Extended variants
information (count: 542 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3829037	chr8:125565328-125565329	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145222040	chr8:125565373-125565374	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs138145251	chr8:125565393-125565394	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs574779812	chr8:125565394-125565395	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs537882421	chr8:125565402-125565403	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs143221092	chr8:125565410-125565411	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs151016520	chr8:125565474-125565475	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs141095365	chr8:125565491-125565492	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs532688949	chr8:125565502-125565503	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs201125981	chr8:125565508-125565509	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs144814634	chr8:125565515-125565516	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs199609130	chr8:125565528-125565529	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs138661461	chr8:125565560-125565561	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs374023911	chr8:125565561-125565562	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs562988130	chr8:125565564-125565565	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs141689396	chr8:125565571-125565572	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs201830819	chr8:125565575-125565576	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs368168972	chr8:125565577-125565578	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs150324758	chr8:125565607-125565608	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs567932929	chr8:125565632-125565633	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs376083580	chr8:125565635-125565636	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs200563029	chr8:125565659-125565660	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs137964432	chr8:125565669-125565670	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs149463159	chr8:125565690-125565691	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs367765263	chr8:125565702-125565703	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs201429479	chr8:125565707-125565708	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs143860749	chr8:125565760-125565761	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs36079322	chr8:125565767-125565768	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs183644518	chr8:125565768-125565769	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369515359	chr8:125565812-125565813	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs372041991	chr8:125565875-125565876	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs375737807	chr8:125565977-125565978	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs13269215	chr8:125565978-125565979	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs11997363	chr8:125566057-125566058	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566341373	chr8:125566164-125566165	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs554345923	chr8:125566183-125566184	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs535344989	chr8:125566241-125566242	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs149569912	chr8:125566294-125566295	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs189224249	chr8:125566312-125566313	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs543784882	chr8:125566329-125566330	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs372452567	chr8:125566433-125566434	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs370516620	chr8:125566443-125566444	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs557420411	chr8:125566459-125566460	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs577405585	chr8:125566519-125566520	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs546327287	chr8:125566568-125566569	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs11997572	chr8:125566581-125566582	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs559936583	chr8:125566583-125566584	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs78320134	chr8:125566584-125566585	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs35665566	chr8:125566597-125566598	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs141316328	chr8:125566626-125566627	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125552200-125565800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:125552200-125568600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:125553400-125568000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:125553400-125568200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
7	chr8:125553600-125566400	Strong transcription	A549	lung
8	chr8:125553600-125566800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
11	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
12	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:125554200-125566800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:125554200-125568600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:125554200-125570000	Strong transcription	Fetal Thymus	thymus
16	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:125554400-125567400	Strong transcription	Colon Smooth Muscle	Colon
18	chr8:125554400-125568200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr8:125554400-125568400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:125554400-125569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
23	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
24	chr8:125554600-125565400	Strong transcription	NH-A	brain
25	chr8:125554600-125566400	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:125554600-125566400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:125554600-125566600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:125554600-125566600	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:125554600-125568000	Strong transcription	Rectal Smooth Muscle	rectum
30	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr8:125554800-125566800	Strong transcription	HSMM	muscle
34	chr8:125554800-125569200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr8:125555000-125566600	Strong transcription	NHLF	lung
36	chr8:125555000-125568200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:125555200-125566400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:125555200-125566400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr8:125555200-125566600	Strong transcription	Fetal Kidney	kidney
40	chr8:125555200-125569000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
42	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr8:125555200-125575200	Strong transcription	Brain Cingulate Gyrus	brain
44	chr8:125555400-125566400	Strong transcription	NHEK	skin
45	chr8:125555400-125568200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:125555600-125567000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:125555600-125574200	Strong transcription	Primary T cells from cord blood	blood
48	chr8:125555800-125566600	Strong transcription	HMEC	breast
49	chr8:125556000-125574200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:125556200-125566000	Strong transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links