Variant report

Variant	nsv872258
Chromosome Location	chr1:146662018-146709784
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:662)
CpG islands
(count:488)
Chromatin interactive
region (count:51)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:146705630-146706245	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:146668916-146668978	K562	blood:	n/a	n/a
3	ARID3A	chr1:146709548-146711502	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:146686873-146687666	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:146682552-146683525	HepG2	liver:	n/a	chr1:146683152-146683168 chr1:146683105-146683121
6	BHLHE40	chr1:146676406-146676684	K562	blood:	n/a	chr1:146676532-146676545 chr1:146676535-146676544 chr1:146676534-146676543
7	BHLHE40	chr1:146696701-146697210	K562	blood:	n/a	n/a
8	BHLHE40	chr1:146696988-146697283	GM12878	blood:	n/a	n/a
9	BRCA1	chr1:146696741-146696948	H1-hESC	embryonic stem cell:	n/a	n/a
10	CBX3	chr1:146708070-146708510	K562	blood:	n/a	n/a
11	CBX3	chr1:146708091-146708414	K562	blood:	n/a	n/a
12	CBX3	chr1:146696744-146697158	K562	blood:	n/a	n/a
13	CEBPB	chr1:146682618-146682886	HepG2	liver:	n/a	chr1:146682821-146682829
14	CEBPB	chr1:146688762-146689046	IMR90	lung:	n/a	chr1:146688893-146688904
15	CEBPB	chr1:146708932-146709655	MCF-7	breast:	n/a	chr1:146709350-146709361
16	CEBPB	chr1:146709733-146710264	MCF-7	breast:	n/a	n/a
17	CEBPB	chr1:146688759-146689146	K562	blood:	n/a	chr1:146688893-146688904
18	CEBPB	chr1:146690171-146690474	K562	blood:	n/a	chr1:146690243-146690256 chr1:146690349-146690360 chr1:146690245-146690256 chr1:146690347-146690360 chr1:146690347-146690358 chr1:146690347-146690360
19	CEBPB	chr1:146688780-146689079	A549	lung:	n/a	chr1:146688893-146688904
20	CEBPB	chr1:146690128-146690548	MCF-7	breast:	n/a	chr1:146690243-146690256 chr1:146690349-146690360 chr1:146690245-146690256 chr1:146690347-146690360 chr1:146690347-146690358 chr1:146690347-146690360
21	CEBPB	chr1:146688819-146689019	Hela-S3	cervix:	n/a	chr1:146688893-146688904
22	CEBPB	chr1:146688814-146689063	H1-hESC	embryonic stem cell:	n/a	chr1:146688893-146688904
23	CEBPB	chr1:146688746-146689079	HepG2	liver:	n/a	chr1:146688893-146688904
24	CEBPB	chr1:146690196-146690449	Hela-S3	cervix:	n/a	chr1:146690243-146690256 chr1:146690349-146690360 chr1:146690245-146690256 chr1:146690347-146690360 chr1:146690347-146690358 chr1:146690347-146690360
25	CEBPB	chr1:146709740-146710453	HepG2	liver:	n/a	n/a
26	CEBPB	chr1:146690119-146690542	HepG2	liver:	n/a	chr1:146690243-146690256 chr1:146690349-146690360 chr1:146690245-146690256 chr1:146690347-146690360 chr1:146690347-146690358 chr1:146690347-146690360
27	CEBPB	chr1:146683206-146683483	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:146690192-146690502	A549	lung:	n/a	chr1:146690243-146690256 chr1:146690349-146690360 chr1:146690245-146690256 chr1:146690347-146690360 chr1:146690347-146690358 chr1:146690347-146690360
29	CEBPB	chr1:146709045-146709712	MCF-7	breast:	n/a	chr1:146709350-146709361
30	CEBPB	chr1:146709757-146710261	MCF-7	breast:	n/a	n/a
31	CEBPD	chr1:146696754-146697008	HepG2	liver:	n/a	n/a
32	CEBPD	chr1:146696725-146697075	HepG2	liver:	n/a	n/a
33	CHD2	chr1:146706815-146706823	HepG2	liver:	n/a	n/a
34	CHD2	chr1:146669115-146669149	GM12878	blood:	n/a	n/a
35	CHD2	chr1:146669031-146669293	K562	blood:	n/a	n/a
36	CHD2	chr1:146696496-146696714	HepG2	liver:	n/a	n/a
37	CTCF	chr1:146696800-146696950	AoAF	blood vessel:	n/a	n/a
38	CTCF	chr1:146696980-146697130	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr1:146696840-146696990	AG10803	skin:	n/a	n/a
40	CTCF	chr1:146696820-146696970	AG04450	lung:	n/a	n/a
41	CTCF	chr1:146696860-146697010	HFF	foreskin:	n/a	n/a
42	CTCF	chr1:146696747-146697009	K562	blood:	n/a	n/a
43	CTCF	chr1:146696780-146696930	AG04450	lung:	n/a	n/a
44	CTCF	chr1:146696760-146696910	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr1:146696780-146696930	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr1:146696803-146696965	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr1:146696815-146696920	Pancreas_OC	pancreas:	n/a	n/a
48	CTCF	chr1:146696840-146696990	BJ	skin:	n/a	n/a
49	CTCF	chr1:146708571-146708691	Fibrobl	skin:	n/a	n/a
50	CTCF	chr1:146696840-146696990	GM12868	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:146704747-146704797	NB4	blood:	n/a
2	chr1:146696779-146696829	SK-N-SH_RA	brain:	n/a
3	chr1:146697520-146697570	HCF	heart:	n/a
4	chr1:146697082-146697132	H1-hESC	embryonic stem cell:	embryo
5	chr1:146696779-146696829	AoSMC	blood vessel:	n/a
6	chr1:146697187-146697237	GM19239	blood:	n/a
7	chr1:146697082-146697132	PANC-1	pancreas:	n/a
8	chr1:146697547-146697597	PANC-1	pancreas:	n/a
9	chr1:146696779-146696829	PrEC	prostate:	n/a
10	chr1:146696779-146696829	A549	lung:	n/a
11	chr1:146697829-146697879	HCM	heart:	n/a
12	chr1:146704747-146704797	AG04449	skin:	fetal
13	chr1:146697082-146697132	IMR90	lung:	fetal
14	chr1:146697829-146697879	NH-A	brain:	n/a
15	chr1:146697082-146697132	HCT-116	colon:	n/a
16	chr1:146697547-146697597	HNPCEpiC	eye:	n/a
17	chr1:146696779-146696829	PFSK-1	brain:	n/a
18	chr1:146704747-146704797	HEK293	kidney:	embryo
19	chr1:146697829-146697879	Caco-2	colon:	n/a
20	chr1:146696779-146696829	AG04450	lung:	fetal
21	chr1:146697082-146697132	HRCEpiC	kidney:	n/a
22	chr1:146695178-146695228	MCF-7	breast:	n/a
23	chr1:146697547-146697597	SK-N-SH	brain:	n/a
24	chr1:146695178-146695228	ovcar-3	ovarian:	n/a
25	chr1:146696779-146696829	BJ	skin:	n/a
26	chr1:146697187-146697237	AG09309	skin:	n/a
27	chr1:146697547-146697597	MCF10A-Er-Src	breast:	n/a
28	chr1:146697082-146697132	GM06990	blood:	n/a
29	chr1:146695178-146695228	A549	lung:	n/a
30	chr1:146704747-146704797	GM12891	blood:	n/a
31	chr1:146696779-146696829	MCF10A-Er-Src	breast:	n/a
32	chr1:146696779-146696829	GM12892	blood:	n/a
33	chr1:146696779-146696829	PANC-1	pancreas:	n/a
34	chr1:146697547-146697597	ovcar-3	ovarian:	n/a
35	chr1:146696779-146696829	HCPEpiC	choroid plexus:	n/a
36	chr1:146697829-146697879	HL-60	blood:	n/a
37	chr1:146697829-146697879	HEK293	kidney:	embryo
38	chr1:146696779-146696829	SKMC	muscle:	n/a
39	chr1:146697520-146697570	CMK	blood:	n/a
40	chr1:146697520-146697570	NT2-D1	testis:	n/a
41	chr1:146697082-146697132	U87	brain:	n/a
42	chr1:146697187-146697237	NB4	blood:	n/a
43	chr1:146697187-146697237	PFSK-1	brain:	n/a
44	chr1:146697547-146697597	ProgFib	skin:	n/a
45	chr1:146696779-146696829	MCF-7	breast:	n/a
46	chr1:146704747-146704797	GM12892	blood:	n/a
47	chr1:146697187-146697237	HUVEC	blood vessel:	n/a
48	chr1:146697082-146697132	CMK	blood:	n/a
49	chr1:146695178-146695228	RPTEC	kidney:	n/a
50	chr1:146697520-146697570	A549	lung:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:146686673..146690855-chr1:146703284..146706398,3	K562	blood:
2	chr1:146643885..146648438-chr1:146670506..146674311,4	MCF-7	breast:
3	chr1:146642791..146647744-chr1:146694916..146698486,10	MCF-7	breast:
4	chr1:146642343..146646438-chr1:146707270..146711599,11	MCF-7	breast:
5	chr1:146704247..146709929-chr1:146710011..146715268,7	K562	blood:
6	chr1:146555822..146557545-chr1:146680381..146682107,2	K562	blood:
7	chr1:146688083..146690838-chr1:146695005..146696638,2	MCF-7	breast:
8	chr1:146581119..146583919-chr1:146708299..146710988,2	MCF-7	breast:
9	chr1:146624878..146626860-chr1:146707008..146708792,2	K562	blood:
10	chr1:146655417..146657145-chr1:146709570..146711892,2	MCF-7	breast:
11	chr1:146642903..146647211-chr1:146683990..146688103,6	MCF-7	breast:
12	chr1:146704510..146706439-chr1:146713729..146715268,2	K562	blood:
13	chr1:146669479..146672261-chr1:146708761..146711496,2	MCF-7	breast:
14	chr1:146555833..146557676-chr1:146673742..146675974,2	K562	blood:
15	chr1:146641972..146644485-chr1:146682211..146685261,3	K562	blood:
16	chr1:146554322..146556284-chr1:146695615..146697996,2	K562	blood:
17	chr1:146686031..146688441-chr1:146704006..146705919,2	MCF-7	breast:
18	chr1:146643871..146644784-chr1:146696536..146697321,4	MCF-7	breast:
19	chr1:146638044..146647556-chr1:146707628..146717159,48	MCF-7	breast:
20	chr1:146554221..146557432-chr1:146668388..146672520,4	K562	blood:
21	chr1:146651943..146653716-chr1:146686553..146688963,2	MCF-7	breast:
22	chr1:146644120..146644666-chr1:146708791..146709436,2	MCF-7	breast:
23	chr1:146554810..146558588-chr1:146703474..146706973,3	K562	blood:
24	chr1:146656864..146658440-chr1:146707993..146710548,2	MCF-7	breast:
25	chr1:146694787..146699847-chr1:146706639..146711306,10	MCF-7	breast:
26	chr1:146642484..146645214-chr1:146706484..146708315,2	K562	blood:
27	chr1:146686673..146690855-chr1:146703284..146706398,3	K562	blood:
28	chr1:146670718..146672235-chr1:146678366..146680445,2	MCF-7	breast:
29	chr1:146555569..146557322-chr1:146680607..146682552,2	K562	blood:
30	chr1:146554799..146556804-chr1:146709237..146711189,2	K562	blood:
31	chr1:146686031..146688441-chr1:146704006..146705919,2	MCF-7	breast:
32	chr1:146555582..146557565-chr1:146708158..146710932,2	K562	blood:
33	chr1:146685019..146687368-chr1:149223475..149225441,2	MCF-7	breast:
34	chr1:146642683..146644587-chr1:146687435..146688992,2	K562	blood:
35	chr1:146687416..146689796-chr1:146696567..146698741,2	MCF-7	breast:
36	chr1:146669479..146672261-chr1:146708761..146711496,2	MCF-7	breast:
37	chr1:146683669..146685991-chr1:146712651..146714854,2	MCF-7	breast:
38	chr1:146646711..146649089-chr1:146668256..146670233,2	MCF-7	breast:
39	chr1:146642336..146645437-chr1:146695438..146700629,5	MCF-7	breast:
40	chr1:146644917..146647495-chr1:146694467..146696944,2	K562	blood:
41	chr1:146683726..146686519-chr1:146694333..146696834,3	MCF-7	breast:
42	chr1:146670718..146672235-chr1:146678366..146680445,2	MCF-7	breast:
43	chr1:146643761..146645780-chr1:146660740..146662833,3	K562	blood:
44	chr1:146679364..146681898-chr1:146713246..146714847,2	MCF-7	breast:
45	chr1:146685532..146688346-chr1:146712991..146715858,2	K562	blood:
46	chr1:146636327..146637904-chr1:146709473..146711189,2	MCF-7	breast:
47	chr1:146696837..146698411-chr1:146712690..146714325,2	K562	blood:
48	chr1:146642998..146645966-chr1:146684900..146690728,6	MCF-7	breast:
49	chr1:146554322..146557448-chr1:146695605..146698369,3	K562	blood:
50	chr1:146696095..146697262-chr1:146714138..146714926,6	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHD1L-1	chr1:146681190-146683136	ENSG00000237188.3
2	lnc-CHD1L-1	chr1:146681190-146681643	ENSG00000237188.3
3	lnc-CHD1L-2	chr1:146695146-146695940	NONHSAT006006
4	lnc-CHD1L-1	chr1:146674899-146674998	ENSG00000237188.3

No data

Variant related genes	Relation type
CCT8P1	TF binding region
ENSG00000236806	TF binding region
FMO5	TF binding region
CHD1L	TF binding region
CCT8P1	CpG island
ENSG00000236806	CpG island
FMO5	CpG island
CHD1L	CpG island
ENSG00000236806	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000237188	chromatin interactions
ENSG00000131791	chromatin interactions
ENSG00000131781	chromatin interactions
ENSG00000230832	chromatin interactions
ENSG00000131778	chromatin interactions
ENSG00000271721	chromatin interactions
ENSG00000273071	chromatin interactions

Extended variants
information (count: 1807 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:1807 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs894467	chr1:146662018-146662019	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371967585	chr1:146662065-146662066	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs587668283	chr1:146662072-146662073	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs181315358	chr1:146662123-146662124	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs17355789	chr1:146662133-146662134	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs587681491	chr1:146662140-146662141	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs369845251	chr1:146662176-146662177	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs28381216	chr1:146662202-146662203	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs587614081	chr1:146662216-146662217	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs17355796	chr1:146662222-146662223	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs12023644	chr1:146662227-146662228	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs28381215	chr1:146662260-146662261	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs202109807	chr1:146662261-146662262	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs183804056	chr1:146662303-146662304	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139373201	chr1:146662322-146662323	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs587760781	chr1:146662325-146662326	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs150035128	chr1:146662354-146662355	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs188575466	chr1:146662379-146662380	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs377204111	chr1:146662393-146662394	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs587675203	chr1:146662436-146662437	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs181409195	chr1:146662437-146662438	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs28745890	chr1:146662441-146662442	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs587637284	chr1:146662483-146662484	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs587725197	chr1:146662496-146662497	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs185946849	chr1:146662508-146662509	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs587659344	chr1:146662564-146662565	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs587716356	chr1:146662621-146662622	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs587597175	chr1:146662641-146662642	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs141438626	chr1:146662658-146662659	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs145136499	chr1:146662661-146662662	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs587629951	chr1:146662666-146662667	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs587655727	chr1:146662681-146662682	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs587743637	chr1:146662712-146662713	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs587639499	chr1:146662723-146662724	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs192192081	chr1:146662724-146662725	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs377685413	chr1:146662725-146662726	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs587653957	chr1:146662730-146662731	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587688479	chr1:146662742-146662743	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs587766805	chr1:146662752-146662753	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs370950097	chr1:146662759-146662760	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587646191	chr1:146662777-146662778	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587676346	chr1:146662802-146662803	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs28745888	chr1:146662806-146662807	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs369613774	chr1:146662807-146662808	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs146793441	chr1:146662810-146662811	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs182251583	chr1:146662822-146662823	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs148919901	chr1:146662839-146662840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587718200	chr1:146662843-146662844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28745886	chr1:146662879-146662880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370264425	chr1:146662880-146662881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:158)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	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
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146645400-146664400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:146645400-146674800	Weak transcription	Gastric	stomach
3	chr1:146645800-146675200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:146649800-146675800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:146649800-146695400	Weak transcription	Left Ventricle	heart
6	chr1:146650000-146668600	Weak transcription	Fetal Lung	lung
7	chr1:146650000-146676000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:146650000-146676600	Weak transcription	Psoas Muscle	Psoas
9	chr1:146650000-146683600	Weak transcription	Aorta	Aorta
10	chr1:146650200-146675200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:146656000-146662200	Strong transcription	Liver	Liver
12	chr1:146658600-146675400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:146658800-146675200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:146658800-146695400	Weak transcription	Lung	lung
15	chr1:146659000-146686000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:146659000-146695200	Weak transcription	Ovary	ovary
17	chr1:146659400-146672600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:146660000-146674800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:146660800-146667000	Weak transcription	HepG2	liver
20	chr1:146661400-146674800	Weak transcription	Pancreas	Pancrea
21	chr1:146661600-146670600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:146662200-146666800	Weak transcription	Liver	Liver
23	chr1:146666000-146669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:146666800-146677200	Strong transcription	Liver	Liver
25	chr1:146667000-146667600	Strong transcription	HepG2	liver
26	chr1:146667600-146668400	Weak transcription	HepG2	liver
27	chr1:146668400-146669000	ZNF genes & repeats	HepG2	liver
28	chr1:146668400-146669200	Enhancers	Stomach Mucosa	stomach
29	chr1:146668600-146669400	Enhancers	Fetal Lung	lung
30	chr1:146669000-146674800	Weak transcription	HepG2	liver
31	chr1:146669200-146669600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:146669400-146673000	Weak transcription	Fetal Lung	lung
33	chr1:146669600-146675400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:146669600-146682600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:146670600-146671000	Enhancers	Brain Cingulate Gyrus	brain
36	chr1:146671000-146671200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:146671400-146694400	Weak transcription	Brain Substantia Nigra	brain
38	chr1:146672600-146673000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:146672600-146673600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:146672600-146676800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr1:146672800-146673000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:146672800-146673000	Active TSS	NHLF	lung
43	chr1:146672800-146696400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:146673000-146673200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:146673000-146673200	Flanking Active TSS	NHLF	lung
46	chr1:146673000-146673600	Enhancers	Fetal Lung	lung
47	chr1:146673000-146676400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:146673200-146673400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:146673200-146673800	Enhancers	NHLF	lung
50	chr1:146673600-146674000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links