Variant report

Variant	nsv612146
Chromosome Location	chr8:125570144-125576681
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	CBX3	chr8:125576389-125577323	K562	blood:	n/a	n/a
8	CBX3	chr8:125574022-125574485	K562	blood:	n/a	n/a
9	CCNT2	chr8:125576482-125577148	K562	blood:	n/a	n/a
10	CEBPB	chr8:125575909-125576108	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:125574600-125574814	IMR90	lung:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
12	CEBPB	chr8:125574506-125574841	K562	blood:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
13	CEBPB	chr8:125574554-125574841	K562	blood:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
14	CEBPB	chr8:125574555-125574783	A549	lung:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
15	CEBPB	chr8:125574510-125574840	HepG2	liver:	n/a	chr8:125574678-125574687 chr8:125574677-125574688 chr8:125574678-125574687 chr8:125574678-125574687 chr8:125574678-125574687
16	CHD2	chr8:125574008-125574253	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:125574160-125574310	AG10803	skin:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
18	CTCF	chr8:125574160-125574310	AoAF	blood vessel:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
19	CTCF	chr8:125574200-125574350	HPAF	blood vessel:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
20	CTCF	chr8:125574200-125574350	SAEC	small airway:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
21	CTCF	chr8:125576660-125576810	K562	blood:	n/a	chr8:125576737-125576750
22	CTCF	chr8:125576660-125576810	GM12868	blood:	n/a	chr8:125576737-125576750
23	CTCF	chr8:125574195-125574199	GM10248	blood:	n/a	n/a
24	CTCF	chr8:125576520-125576670	AG09309	skin:	n/a	n/a
25	CTCF	chr8:125576660-125576810	BJ	skin:	n/a	chr8:125576737-125576750
26	CTCF	chr8:125574126-125574396	GM12878	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
27	CTCF	chr8:125573340-125573490	NHEK	skin:	n/a	n/a
28	CTCF	chr8:125573400-125573550	HCT-116	colon:	n/a	n/a
29	CTCF	chr8:125576620-125576770	GM12801	blood:	n/a	chr8:125576737-125576750
30	CTCF	chr8:125574160-125574310	AG04450	lung:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
31	CTCF	chr8:125576680-125576830	HCPEpiC	choroid plexus:	n/a	chr8:125576737-125576750
32	CTCF	chr8:125576570-125576869	K562	blood:	n/a	chr8:125576737-125576750
33	CTCF	chr8:125574160-125574310	SAEC	small airway:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
34	CTCF	chr8:125576640-125576790	GM12866	blood:	n/a	chr8:125576737-125576750
35	CTCF	chr8:125574160-125574310	GM12869	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
36	CTCF	chr8:125574109-125574425	GM12891	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
37	CTCF	chr8:125573060-125573210	GM12873	blood:	n/a	n/a
38	CTCF	chr8:125576640-125576790	AG09319	gingival:	n/a	chr8:125576737-125576750
39	CTCF	chr8:125574140-125574290	AG09309	skin:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
40	CTCF	chr8:125574180-125574330	GM12872	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
41	CTCF	chr8:125576674-125576787	GM13976	blood:	n/a	chr8:125576737-125576750
42	CTCF	chr8:125574180-125574330	HMEC	breast:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
43	CTCF	chr8:125574200-125574350	GM12871	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
44	CTCF	chr8:125574160-125574310	HMEC	breast:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
45	CTCF	chr8:125576633-125576841	GM12878	blood:	n/a	chr8:125576737-125576750
46	CTCF	chr8:125576640-125576790	GM12869	blood:	n/a	chr8:125576737-125576750
47	CTCF	chr8:125573981-125574482	K562	blood:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574058-125574067 chr8:125574246-125574254
48	CTCF	chr8:125576457-125577006	K562	blood:	n/a	chr8:125576737-125576750
49	CTCF	chr8:125574160-125574310	HA-sp	spinal cord:	n/a	chr8:125574243-125574261 chr8:125574246-125574259 chr8:125574246-125574259 chr8:125574246-125574254
50	CTCF	chr8:125576660-125576810	GM12875	blood:	n/a	chr8:125576737-125576750

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:125576109-125576159	Hela-S3	cervix:	n/a
2	chr8:125576109-125576159	NHDF-neo	bronchial:	n/a
3	chr8:125576109-125576159	A549	lung:	n/a
4	chr8:125576109-125576159	HepG2	liver:	n/a
5	chr8:125576109-125576159	SK-N-SH	brain:	n/a
6	chr8:125576109-125576159	HMEC	breast:	n/a
7	chr8:125576109-125576159	Caco-2	colon:	n/a
8	chr8:125576109-125576159	AoSMC	blood vessel:	n/a
9	chr8:125576109-125576159	NH-A	brain:	n/a
10	chr8:125576109-125576159	BE2_C	brain:	n/a
11	chr8:125576109-125576159	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:125576109-125576159	HRPEpiC	eye:	n/a
13	chr8:125576109-125576159	HEK293	kidney:	embryo
14	chr8:125576109-125576159	Jurkat	blood:	n/a
15	chr8:125576109-125576159	ProgFib	skin:	n/a
16	chr8:125576109-125576159	MCF10A-Er-Src	breast:	n/a
17	chr8:125576109-125576159	CMK	blood:	n/a
18	chr8:125576109-125576159	HCM	heart:	n/a
19	chr8:125576109-125576159	ovcar-3	ovarian:	n/a
20	chr8:125576109-125576159	T-47D	breast:	n/a
21	chr8:125576109-125576159	SK-N-SH_RA	brain:	n/a
22	chr8:125576109-125576159	AG04450	lung:	fetal
23	chr8:125576109-125576159	Hepatocyte	liver:	n/a
24	chr8:125576109-125576159	SAEC	small airway:	n/a
25	chr8:125576109-125576159	HCT-116	colon:	n/a
26	chr8:125576109-125576159	SK-N-MC	brain:	n/a
27	chr8:125576109-125576159	AG09319	gingival:	n/a
28	chr8:125576109-125576159	ECC-1	luminal epithelium:	n/a
29	chr8:125576109-125576159	H1-hESC	embryonic stem cell:	embryo
30	chr8:125576109-125576159	NHBE	bronchial:	n/a
31	chr8:125576109-125576159	HCF	heart:	n/a
32	chr8:125576109-125576159	HIPEpiC	eye:	n/a
33	chr8:125576109-125576159	AG09309	skin:	n/a
34	chr8:125576109-125576159	HRE	kidney:	n/a
35	chr8:125576109-125576159	GM12891	blood:	n/a
36	chr8:125576109-125576159	RPTEC	kidney:	n/a
37	chr8:125576109-125576159	HEEpiC	esophagus:	n/a
38	chr8:125576109-125576159	HAEpiC	amniotic membrane:	n/a
39	chr8:125576109-125576159	SKMC	muscle:	n/a
40	chr8:125576109-125576159	AG04449	skin:	fetal
41	chr8:125576109-125576159	GM06990	blood:	n/a
42	chr8:125576109-125576159	HNPCEpiC	eye:	n/a
43	chr8:125576109-125576159	HUVEC	blood vessel:	n/a
44	chr8:125576109-125576159	HL-60	blood:	n/a
45	chr8:125576109-125576159	HRCEpiC	kidney:	n/a
46	chr8:125576109-125576159	BJ	skin:	n/a
47	chr8:125576109-125576159	NB4	blood:	n/a
48	chr8:125576109-125576159	IMR90	lung:	fetal
49	chr8:125576109-125576159	PFSK-1	brain:	n/a
50	chr8:125576109-125576159	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125572972..125577628-chr8:125578200..125582090,6	MCF-7	breast:
2	chr8:125572673..125575871-chr8:125577015..125582400,6	K562	blood:
3	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
4	chr5:176852795..176855032-chr8:125568012..125570778,2	MCF-7	breast:
5	chr8:125567601..125570100-chr8:125573465..125576752,3	MCF-7	breast:
6	chr8:125576007..125577952-chr8:125590257..125591907,2	MCF-7	breast:
7	chr8:125539308..125541314-chr8:125571807..125574800,2	MCF-7	breast:
8	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
9	chr8:125573332..125574424-chr8:125592832..125593703,3	MCF-7	breast:
10	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
11	chr8:125543458..125545211-chr8:125571140..125573606,2	MCF-7	breast:
12	chr8:125570451..125574343-chr8:125825804..125829124,4	K562	blood:
13	chr8:125551424..125552952-chr8:125573257..125575450,2	K562	blood:
14	chr8:125570946..125573544-chr8:125575024..125576793,2	MCF-7	breast:
15	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
16	chr8:125548205..125551096-chr8:125575812..125578141,2	MCF-7	breast:
17	chr8:125570314..125572061-chr8:125572775..125574818,2	MCF-7	breast:
18	chr8:125573683..125575467-chr8:125971520..125974069,2	MCF-7	breast:
19	chr8:125550147..125552790-chr8:125567789..125570449,2	MCF-7	breast:
20	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
21	chr8:125554525..125556837-chr8:125571840..125574093,4	K562	blood:
22	chr8:125554525..125556396-chr8:125571840..125574093,2	K562	blood:
23	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
24	chr8:125570314..125572061-chr8:125572775..125574818,2	MCF-7	breast:
25	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
26	chr8:125573757..125577202-chr8:125578987..125583404,3	MCF-7	breast:
27	chr8:125501995..125503698-chr8:125571689..125573791,2	K562	blood:
28	chr8:125572358..125574259-chr8:125739651..125742018,2	MCF-7	breast:
29	chr8:125486165..125488789-chr8:125574025..125577553,3	MCF-7	breast:
30	chr8:125549460..125555106-chr8:125573452..125578755,9	MCF-7	breast:
31	chr8:125575430..125576994-chr8:125827635..125829466,2	K562	blood:
32	chr8:125574370..125578079-chr8:125630160..125632086,3	MCF-7	breast:

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

Extended variants
information (count: 294 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4870903	chr8:125570144-125570145	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560196530	chr8:125570149-125570150	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs200039585	chr8:125570162-125570163	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs539389671	chr8:125570177-125570178	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs552195413	chr8:125570185-125570186	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs565681019	chr8:125570230-125570231	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs150620957	chr8:125570238-125570239	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs554662920	chr8:125570262-125570263	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs74514108	chr8:125570292-125570293	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs116834121	chr8:125570293-125570294	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs556782301	chr8:125570357-125570358	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs193033906	chr8:125570405-125570406	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs545701049	chr8:125570450-125570451	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs138758715	chr8:125570461-125570462	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs572426030	chr8:125570467-125570468	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs185190108	chr8:125570474-125570475	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs561420119	chr8:125570475-125570476	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs530164564	chr8:125570484-125570485	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs550043494	chr8:125570493-125570494	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs3750232	chr8:125570528-125570529	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs529488454	chr8:125570530-125570531	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs532817116	chr8:125570542-125570543	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs6470248	chr8:125570554-125570555	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs565513620	chr8:125570557-125570558	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs188560016	chr8:125570592-125570593	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs143121597	chr8:125570636-125570637	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs568141123	chr8:125570637-125570638	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs536788514	chr8:125570652-125570653	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs147494531	chr8:125570682-125570683	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs570315897	chr8:125570690-125570691	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs533839901	chr8:125570699-125570700	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs539319497	chr8:125570711-125570712	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs7830235	chr8:125570729-125570730	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs79146787	chr8:125570758-125570759	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs139663620	chr8:125570771-125570772	Weak transcription Strong transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs7846270	chr8:125570800-125570801	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574979286	chr8:125570821-125570822	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs556475448	chr8:125570830-125570831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs181321595	chr8:125570852-125570853	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs563826816	chr8:125570875-125570876	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs377181747	chr8:125570943-125570944	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs145261947	chr8:125570982-125570983	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs144103812	chr8:125570993-125570994	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs559973464	chr8:125571019-125571020	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs528827200	chr8:125571044-125571045	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs548156528	chr8:125571059-125571060	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs567972003	chr8:125571096-125571097	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs530475791	chr8:125571128-125571129	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs550282326	chr8:125571134-125571135	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs185243548	chr8:125571148-125571149	Weak transcription Strong transcription	TF binding region 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
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:410 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
3	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
5	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
6	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
10	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
11	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
15	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:125555200-125575200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr8:125555600-125574200	Strong transcription	Primary T cells from cord blood	blood
18	chr8:125556000-125574200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:125556200-125575000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:125557000-125572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:125558000-125575600	Weak transcription	Stomach Mucosa	stomach
23	chr8:125558200-125573600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:125558800-125573200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:125559000-125572600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125559200-125572400	Strong transcription	Lung	lung
27	chr8:125560400-125575000	Weak transcription	Right Atrium	heart
28	chr8:125561200-125572800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:125561200-125575200	Strong transcription	HepG2	liver
30	chr8:125561400-125572400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:125561400-125575000	Strong transcription	Adipose Nuclei	Adipose
32	chr8:125561400-125575600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:125561600-125571800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:125561600-125573400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:125561600-125575000	Strong transcription	Liver	Liver
36	chr8:125563400-125572600	Strong transcription	Spleen	Spleen
37	chr8:125563600-125574400	Strong transcription	Right Ventricle	heart
38	chr8:125563600-125575600	Strong transcription	Fetal Stomach	stomach
39	chr8:125564000-125574000	Weak transcription	K562	blood
40	chr8:125564000-125574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:125564000-125575600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:125564200-125572600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:125564200-125574000	Strong transcription	Brain Germinal Matrix	brain
44	chr8:125564400-125572400	Strong transcription	Esophagus	oesophagus
45	chr8:125564400-125572800	Weak transcription	HSMMtube	muscle
46	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
47	chr8:125564800-125573400	Weak transcription	Hela-S3	cervix
48	chr8:125565600-125572400	Strong transcription	Pancreas	Pancrea
49	chr8:125566000-125575000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links